Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ACVR2B CL E G H | 93 | 174 | OMIM:613751 | Heterotaxy, visceral, 4, autosomal | | | | 161 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | | | | 5 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | | | | 147 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | | | | 572 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | | | | 36 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | | | | 126 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | | | | 182 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | | | | 7 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | | | | 17 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | | | | 13 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | | | | 14 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | | | | 4 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:3303 | Tetralogy of Fallot | | | | 5 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | | | | 6 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | | | | 13 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | | | | 9 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | | | | 116 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | | | | 78 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | | | | 63 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | | | | 27 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | | | | 62 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | | | | 542 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | | | | 527 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | | | | 18 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | | | | 73 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | | | | 104 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | | | | 167 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | | | | 18 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | | | | 44 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | | | | 223 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | | | | 4 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | | | | 58 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | | | | 184 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FLT4 CL E G H | 2324 | 3767 | OMIM:618780 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7 | | | | 90 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FLT4 CL E G H | 2324 | 3767 | ORPHA:3303 | Tetralogy of Fallot | | | | 90 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | | | | 20 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FOXF1 CL E G H | 2294 | 3809 | ORPHA:210122 | Congenital alveolar capillary dysplasia | | | | 61 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | | | | 9 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:615542 | Testicular anomalies with or without congenital heart disease | | | | 87 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:3303 | Tetralogy of Fallot | | | | 87 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:187500 | Tetralogy of Fallot | | | | 87 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:614429 | Ventricular septal defect 1 | | | | 87 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA5 CL E G H | 140628 | 15802 | OMIM:617912 | Congenital heart defects, multiple types, 5 | | | | 10 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:3303 | Tetralogy of Fallot | | | | 10 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:217095 | Conotruncal heart malformations | | | | 37 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | | | | 37 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:187500 | Tetralogy of Fallot | | | | 37 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:3303 | Tetralogy of Fallot | | | | 37 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:613854 | Congenital heart defects, multiple types, 6 | | | | 28 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GDF1 CL E G H | 2657 | 4214 | ORPHA:3303 | Tetralogy of Fallot | | | | 28 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2248 | Hypoplastic left heart syndrome | | | | 68 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GJA5 CL E G H | 2702 | 4279 | ORPHA:3303 | Tetralogy of Fallot | | | | 39 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | HIBCH CL E G H | 26275 | 4908 | OMIM:250620 | 3-Hydroxyisobutyryl-Coa hydrolase deficiency | | | | 32 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | | | | 32 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:617992 | DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE | | | | 257 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:187500 | Tetralogy of Fallot | | | | 257 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | JAG1 CL E G H | 182 | 6188 | ORPHA:3303 | Tetralogy of Fallot | | | | 257 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | KDR CL E G H | 3791 | 6307 | ORPHA:3303 | Tetralogy of Fallot | | | | 40 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | | | | 645 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | LRRC56 CL E G H | 115399 | 25430 | OMIM:618254 | CILIARY DYSKINESIA, PRIMARY, 39; CILD39 | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | | | | 13 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | | | | 69 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 64 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MMP21 CL E G H | 118856 | 14357 | OMIM:616749 | Heterotaxy, visceral, 7, autosomal | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 117 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NIPA2 CL E G H | 81614 | 17044 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:108900 | Atrial septal defect with atrioventricular conduction defects | | | | 90 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:217095 | Conotruncal heart malformations | | | | 90 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:2248 | Hypoplastic left heart syndrome | | | | 90 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:614435 | Hypoplastic left heart syndrome 2 | | | | 90 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:187500 | Tetralogy of Fallot | | | | 90 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:3303 | Tetralogy of Fallot | | | | 90 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NKX2-6 CL E G H | 137814 | 32940 | OMIM:217095 | Conotruncal heart malformations | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3303 | Tetralogy of Fallot | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | | | | 50 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | | | | 452 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | | | | 452 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | | | | 138 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NR2F2 CL E G H | 7026 | 7976 | OMIM:615779 | Congenital heart defects, multiple types, 4 | | | | 13 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | | | | 201 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | | | | 36 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | | | | 4 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | | | | 150 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | | | | 200 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | | | | 40 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | | | | 31 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | | | | 5 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | | | | 58 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | | | | 45 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | | | | 6 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | | | | 15 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | | | | 3 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | | | | 71 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TAB2 CL E G H | 23118 | 17075 | OMIM:614980 | Congenital heart defects, multiple types, 2 | | | | 11 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | | | | 32 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:217095 | Conotruncal heart malformations | | | | 32 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:187500 | Tetralogy of Fallot | | | | 32 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:3303 | Tetralogy of Fallot | | | | 32 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | TUBG1 CL E G H | 7283 | 12417 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 14 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | | | | 177 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ZFPM2 CL E G H | 23414 | 16700 | OMIM:187500 | Tetralogy of Fallot | | | | 31 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:3303 | Tetralogy of Fallot | | | | 31 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | | | | 39 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | | | | 83 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0011545 | HP:0011545 | Abnormal connection of the cardiac segments | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ACVR2B CL E G H | 93 | 174 | OMIM:613751 | Heterotaxy, visceral, 4, autosomal | | | | 161 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | | | | 5 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | | | | 147 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | | | | 572 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | | | | 36 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | | | | 126 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | | | | 182 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | | | | 7 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | | | | 17 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | | | | 13 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | | | | 14 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | | | | 4 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CITED2 CL E G H | 10370 | 1987 | ORPHA:3303 | Tetralogy of Fallot | | | | 5 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | | | | 6 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | | | | 13 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | | | | 9 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | | | | 116 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | | | | 78 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | | | | 63 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | | | | 27 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | | | | 62 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | | | | 542 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | | | | 527 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | | | | 18 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | | | | 73 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | | | | 104 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | | | | 167 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | | | | 18 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | | | | 44 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | | | | 223 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | | | | 4 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | | | | 58 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | | | | 184 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FLT4 CL E G H | 2324 | 3767 | OMIM:618780 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7 | | | | 90 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FLT4 CL E G H | 2324 | 3767 | ORPHA:3303 | Tetralogy of Fallot | | | | 90 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | | | | 20 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FOXF1 CL E G H | 2294 | 3809 | ORPHA:210122 | Congenital alveolar capillary dysplasia | | | | 61 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | | | | 9 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA4 CL E G H | 2626 | 4173 | OMIM:615542 | Testicular anomalies with or without congenital heart disease | | | | 87 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:3303 | Tetralogy of Fallot | | | | 87 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA4 CL E G H | 2626 | 4173 | OMIM:187500 | Tetralogy of Fallot | | | | 87 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA4 CL E G H | 2626 | 4173 | OMIM:614429 | Ventricular septal defect 1 | | | | 87 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA5 CL E G H | 140628 | 15802 | OMIM:617912 | Congenital heart defects, multiple types, 5 | | | | 10 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA5 CL E G H | 140628 | 15802 | ORPHA:3303 | Tetralogy of Fallot | | | | 10 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA6 CL E G H | 2627 | 4174 | OMIM:217095 | Conotruncal heart malformations | | | | 37 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | | | | 37 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA6 CL E G H | 2627 | 4174 | ORPHA:3303 | Tetralogy of Fallot | | | | 37 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GATA6 CL E G H | 2627 | 4174 | OMIM:187500 | Tetralogy of Fallot | | | | 37 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GDF1 CL E G H | 2657 | 4214 | OMIM:613854 | Congenital heart defects, multiple types, 6 | | | | 28 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GDF1 CL E G H | 2657 | 4214 | ORPHA:3303 | Tetralogy of Fallot | | | | 28 | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2248 | Hypoplastic left heart syndrome | | | | 68 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GJA5 CL E G H | 2702 | 4279 | ORPHA:3303 | Tetralogy of Fallot | | | | 39 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | HIBCH CL E G H | 26275 | 4908 | OMIM:250620 | 3-Hydroxyisobutyryl-Coa hydrolase deficiency | | | | 32 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | | | | 32 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:617992 | DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE | | | | 257 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:187500 | Tetralogy of Fallot | | | | 257 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | JAG1 CL E G H | 182 | 6188 | ORPHA:3303 | Tetralogy of Fallot | | | | 257 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | KDR CL E G H | 3791 | 6307 | ORPHA:3303 | Tetralogy of Fallot | | | | 40 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | | | | 645 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | LRRC56 CL E G H | 115399 | 25430 | OMIM:618254 | CILIARY DYSKINESIA, PRIMARY, 39; CILD39 | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | | | | 13 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | | | | 69 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 64 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MMP21 CL E G H | 118856 | 14357 | OMIM:616749 | Heterotaxy, visceral, 7, autosomal | | | | 3 | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | MMP21 CL E G H | 118856 | 14357 | OMIM:616749 | Heterotaxy, visceral, 7, autosomal | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 117 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NIPA2 CL E G H | 81614 | 17044 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:108900 | Atrial septal defect with atrioventricular conduction defects | | | | 90 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:217095 | Conotruncal heart malformations | | | | 90 | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:2248 | Hypoplastic left heart syndrome | | | | 90 | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:614435 | Hypoplastic left heart syndrome 2 | | | | 90 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:187500 | Tetralogy of Fallot | | | | 90 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:3303 | Tetralogy of Fallot | | | | 90 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NKX2-6 CL E G H | 137814 | 32940 | OMIM:217095 | Conotruncal heart malformations | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3303 | Tetralogy of Fallot | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | | | | 50 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | | | | 452 | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | | | | 452 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | | | | 452 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | | | | 138 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NR2F2 CL E G H | 7026 | 7976 | OMIM:615779 | Congenital heart defects, multiple types, 4 | | | | 13 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | | | | 201 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | | | | 36 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | | | | 4 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | | | | 150 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | | | | 200 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | | | | 40 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | | | | 31 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | | | | 5 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | | | | 58 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | | | | 45 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | | | | 6 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | | | | 15 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | | | | 3 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | | | | 71 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TAB2 CL E G H | 23118 | 17075 | OMIM:614980 | Congenital heart defects, multiple types, 2 | | | | 11 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | | | | 32 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:217095 | Conotruncal heart malformations | | | | 32 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:187500 | Tetralogy of Fallot | | | | 32 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:3303 | Tetralogy of Fallot | | | | 32 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | TUBG1 CL E G H | 7283 | 12417 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 14 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | | | | 177 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:3303 | Tetralogy of Fallot | | | | 31 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ZFPM2 CL E G H | 23414 | 16700 | OMIM:187500 | Tetralogy of Fallot | | | | 31 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0011545 | HP:0011546 | Abnormal atrioventricular connection | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | | | | 39 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | | | | 83 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0011545 | HP:0011563 | Abnormal ventriculoarterial connection | 1 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0011545 | HP:0011552 | Ambiguous atrioventricular connection | 2 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011562 | Straddling atrioventricular valve | 2 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011561 | Overriding atrioventricular valve | 2 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011548 | Absent right sided atrioventricular connection | 2 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011547 | Absent left sided atrioventricular connection | 2 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | ACVR2B CL E G H | 93 | 174 | OMIM:613751 | Heterotaxy, visceral, 4, autosomal | | | | 161 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | | | | 5 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | | | | 147 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | | | | 5769 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | | | | 7642 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | | | | 1086 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | | | | 572 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 36 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | | | | 36 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 126 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | | | | 126 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 182 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | | | | 182 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0011545 | HP:0011560 | Mitral atresia | 2 | CCNQ CL E G H | 92002 | 28434 | ORPHA:140952 | Syndactyly-telecanthus-anogenital and renal malformations syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | . | | | 17 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | | | | 17 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | . | | | 13 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | | | | 13 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | | | | 14 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | | | | 4 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0011545 | HP:0011554 | Double inlet atrioventricular connection | 2 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0011545 | HP:0011553 | Discordant atrioventricular connection | 2 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CITED2 CL E G H | 10370 | 1987 | ORPHA:3303 | Tetralogy of Fallot | | | | 5 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | | | | 6 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | | | | 13 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | | | | 9 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | | | | 116 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 116 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | | | | 78 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 78 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | | | | 63 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 63 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 27 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | | | | 27 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 62 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | | | | 62 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | | | | 542 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 542 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 527 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | | | | 527 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | | | | 18 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 18 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 73 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | | | | 73 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | | | | 104 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 104 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 167 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | | | | 167 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | | | | 18 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | | | | 44 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 44 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | | | | 4 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | | | | 158 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | | | | 340 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | | | | 58 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | . | | | 58 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | | | | 410 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | | | | 147 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | | | | 87 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | | | | 73 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | | | | 157 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | | | | 53 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | | | | 107 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FLT4 CL E G H | 2324 | 3767 | OMIM:618780 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7 | | | | 90 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FLT4 CL E G H | 2324 | 3767 | ORPHA:3303 | Tetralogy of Fallot | | | | 90 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | | | | 20 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FOXF1 CL E G H | 2294 | 3809 | ORPHA:210122 | Congenital alveolar capillary dysplasia | | | | 61 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | | | | 1 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 9 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | | | | 9 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA4 CL E G H | 2626 | 4173 | OMIM:615542 | Testicular anomalies with or without congenital heart disease | | | | 87 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA4 CL E G H | 2626 | 4173 | ORPHA:3303 | Tetralogy of Fallot | | | | 87 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA4 CL E G H | 2626 | 4173 | OMIM:187500 | Tetralogy of Fallot | | | | 87 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA4 CL E G H | 2626 | 4173 | OMIM:614429 | Ventricular septal defect 1 | | | | 87 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA5 CL E G H | 140628 | 15802 | OMIM:617912 | Congenital heart defects, multiple types, 5 | | | | 10 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA5 CL E G H | 140628 | 15802 | ORPHA:3303 | Tetralogy of Fallot | | | | 10 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GATA6 CL E G H | 2627 | 4174 | OMIM:217095 | Conotruncal heart malformations | . | | | 37 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA6 CL E G H | 2627 | 4174 | OMIM:217095 | Conotruncal heart malformations | | | | 37 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | . | | | 37 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | | | | 37 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA6 CL E G H | 2627 | 4174 | OMIM:187500 | Tetralogy of Fallot | | | | 37 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GATA6 CL E G H | 2627 | 4174 | ORPHA:3303 | Tetralogy of Fallot | | | | 37 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GDF1 CL E G H | 2657 | 4214 | OMIM:613854 | Congenital heart defects, multiple types, 6 | | | | 28 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GDF1 CL E G H | 2657 | 4214 | OMIM:613854 | Congenital heart defects, multiple types, 6 | | | | 28 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GDF1 CL E G H | 2657 | 4214 | ORPHA:3303 | Tetralogy of Fallot | | | | 28 | | |
HP:0011545 | HP:0011560 | Mitral atresia | 2 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2248 | Hypoplastic left heart syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 39 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GJA5 CL E G H | 2702 | 4279 | ORPHA:3303 | Tetralogy of Fallot | | | | 39 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 34 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0011545 | HP:0011560 | Mitral atresia | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | HIBCH CL E G H | 26275 | 4908 | OMIM:250620 | 3-Hydroxyisobutyryl-Coa hydrolase deficiency | | | | 32 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | | | | 32 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | JAG1 CL E G H | 182 | 6188 | OMIM:617992 | DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE | | | | 257 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | JAG1 CL E G H | 182 | 6188 | OMIM:187500 | Tetralogy of Fallot | | | | 257 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | JAG1 CL E G H | 182 | 6188 | ORPHA:3303 | Tetralogy of Fallot | | | | 257 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | KDR CL E G H | 3791 | 6307 | ORPHA:3303 | Tetralogy of Fallot | | | | 40 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | LRRC56 CL E G H | 115399 | 25430 | OMIM:618254 | CILIARY DYSKINESIA, PRIMARY, 39; CILD39 | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | | | | 1 | | |
HP:0011545 | HP:0011554 | Double inlet atrioventricular connection | 2 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 13 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | | | | 13 | | |
HP:0011545 | HP:0011560 | Mitral atresia | 2 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040283 - Occasional | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | HP:0040283 - Occasional | | | 74 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | | | | 69 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | | | | 64 | | |
HP:0011545 | HP:0011560 | Mitral atresia | 2 | MMP21 CL E G H | 118856 | 14357 | OMIM:616749 | Heterotaxy, visceral, 7, autosomal | | | | 3 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | MMP21 CL E G H | 118856 | 14357 | OMIM:616749 | Heterotaxy, visceral, 7, autosomal | | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 117 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NIPA2 CL E G H | 81614 | 17044 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:108900 | Atrial septal defect with atrioventricular conduction defects | | | | 90 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:217095 | Conotruncal heart malformations | . | | | 90 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:217095 | Conotruncal heart malformations | | | | 90 | | |
HP:0011545 | HP:0011560 | Mitral atresia | 2 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:2248 | Hypoplastic left heart syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0011545 | HP:0011560 | Mitral atresia | 2 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:614435 | Hypoplastic left heart syndrome 2 | . | | | 90 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:187500 | Tetralogy of Fallot | | | | 90 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:3303 | Tetralogy of Fallot | | | | 90 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NKX2-6 CL E G H | 137814 | 32940 | OMIM:217095 | Conotruncal heart malformations | | | | 3 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | NKX2-6 CL E G H | 137814 | 32940 | OMIM:217095 | Conotruncal heart malformations | . | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3303 | Tetralogy of Fallot | | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | | | | 3 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | HP:0040284 - Very rare | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | | | | 50 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 50 | | |
HP:0011545 | HP:0011554 | Double inlet atrioventricular connection | 2 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | | | | 452 | | |
HP:0011545 | HP:0011560 | Mitral atresia | 2 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | HP:0040284 - Very rare | | | 452 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | | | | 452 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | | | | 138 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NR2F2 CL E G H | 7026 | 7976 | OMIM:615779 | Congenital heart defects, multiple types, 4 | | | | 13 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | | | | 201 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 201 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | | | | 1349 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | | | | 36 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0011545 | HP:0011554 | Double inlet atrioventricular connection | 2 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | | | | 4 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | | | | 9 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | | | | 391 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | | | | 150 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 200 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | | | | 200 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | | | | 40 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 31 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | | | | 31 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 5 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | | | | 5 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | | | | 58 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 58 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | | | | 124 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | | | | 86 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | | | | 274 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | | | | 45 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 45 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | | | | 6 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 15 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | | | | 15 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | | | | 3 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 3 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | | | | 71 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TAB2 CL E G H | 23118 | 17075 | OMIM:614980 | Congenital heart defects, multiple types, 2 | | | | 11 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | | | | 32 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TBX1 CL E G H | 6899 | 11592 | OMIM:217095 | Conotruncal heart malformations | | | | 32 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | TBX1 CL E G H | 6899 | 11592 | OMIM:217095 | Conotruncal heart malformations | . | | | 32 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TBX1 CL E G H | 6899 | 11592 | OMIM:187500 | Tetralogy of Fallot | | | | 32 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TBX1 CL E G H | 6899 | 11592 | ORPHA:3303 | Tetralogy of Fallot | | | | 32 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | TUBG1 CL E G H | 7283 | 12417 | ORPHA:261183 | 15q11.2 microdeletion syndrome | | | | 14 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | | | | 2 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | | | | 125 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:3303 | Tetralogy of Fallot | | | | 31 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ZFPM2 CL E G H | 23414 | 16700 | OMIM:187500 | Tetralogy of Fallot | | | | 31 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0011545 | HP:0011560 | Mitral atresia | 2 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | . | | | 39 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | . | | | 39 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 83 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |
HP:0011545 | HP:0001710 | Conotruncal defect | 2 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0011545 | HP:0001669 | Transposition of the great arteries | 2 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0011545 | HP:0011551 | Right sided atrium to left ventricle and absent left sided atrioventricular connection | 3 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0031349 | Levotransposition of the great arteries | 3 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011550 | Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection | 3 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011549 | Univentricular heart with absent left sided atrioventricular connection | 3 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011557 | Double inlet to single ventricle of indeterminate morphology | 3 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0031348 | Dextrotransposition of the great arteries | 3 | ACVR2B CL E G H | 93 | 174 | OMIM:613751 | Heterotaxy, visceral, 4, autosomal | | | | 161 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 219 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CACNA1C CL E G H | 775 | 1390 | OMIM:601005 | Timothy syndrome | HP:0040283 - Occasional | | | 572 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 36 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 126 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 182 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | | | | 17 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | . | | | 13 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | . | | | 14 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0011545 | HP:0011556 | Double inlet right ventricle | 3 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0011545 | HP:0031348 | Dextrotransposition of the great arteries | 3 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CITED2 CL E G H | 10370 | 1987 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 5 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | COX7B CL E G H | 1349 | 2291 | OMIM:300887 | Linear skin defects with multiple congenital anomalies 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DDX59 CL E G H | 83479 | 25360 | OMIM:174300 | Orofaciodigital syndrome V | | | | 2 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 116 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 78 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 63 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 27 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 62 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 542 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 527 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 18 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 73 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 104 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 2 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 167 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 44 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040284 - Very rare | | | 65 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040284 - Very rare | | | 111 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FLT4 CL E G H | 2324 | 3767 | OMIM:618780 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7 | | | | 90 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FLT4 CL E G H | 2324 | 3767 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 90 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | . | | | 20 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FOXF1 CL E G H | 2294 | 3809 | ORPHA:210122 | Congenital alveolar capillary dysplasia | HP:0040283 - Occasional | | | 61 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 1 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 9 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | | | | 29 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA4 CL E G H | 2626 | 4173 | OMIM:615542 | Testicular anomalies with or without congenital heart disease | HP:0040283 - Occasional | | | 87 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA4 CL E G H | 2626 | 4173 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 87 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA4 CL E G H | 2626 | 4173 | OMIM:187500 | Tetralogy of Fallot | . | | | 87 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA4 CL E G H | 2626 | 4173 | OMIM:614429 | Ventricular septal defect 1 | | | | 87 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | GATA5 CL E G H | 140628 | 15802 | OMIM:617912 | Congenital heart defects, multiple types, 5 | . | | | 10 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA5 CL E G H | 140628 | 15802 | OMIM:617912 | Congenital heart defects, multiple types, 5 | . | | | 10 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA5 CL E G H | 140628 | 15802 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 10 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | GATA6 CL E G H | 2627 | 4174 | OMIM:217095 | Conotruncal heart malformations | . | | | 37 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA6 CL E G H | 2627 | 4174 | OMIM:187500 | Tetralogy of Fallot | . | | | 37 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GATA6 CL E G H | 2627 | 4174 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 37 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | GDF1 CL E G H | 2657 | 4214 | OMIM:613854 | Congenital heart defects, multiple types, 6 | . | | | 28 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GDF1 CL E G H | 2657 | 4214 | OMIM:613854 | Congenital heart defects, multiple types, 6 | . | | | 28 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GDF1 CL E G H | 2657 | 4214 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 28 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GJA5 CL E G H | 2702 | 4279 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 39 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | HIBCH CL E G H | 26275 | 4908 | OMIM:250620 | 3-Hydroxyisobutyryl-Coa hydrolase deficiency | . | | | 32 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | HP:0040284 - Very rare | | | 32 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | JAG1 CL E G H | 182 | 6188 | OMIM:617992 | DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE | | | | 257 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | JAG1 CL E G H | 182 | 6188 | OMIM:187500 | Tetralogy of Fallot | . | | | 257 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | JAG1 CL E G H | 182 | 6188 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 257 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | KDR CL E G H | 3791 | 6307 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 40 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | LRRC56 CL E G H | 115399 | 25430 | OMIM:618254 | CILIARY DYSKINESIA, PRIMARY, 39; CILD39 | | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0011545 | HP:0011555 | Double inlet left ventricle | 3 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 13 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 2 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040283 - Occasional | | | 64 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | . | | | 2 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040284 - Very rare | | | 117 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NIPA2 CL E G H | 81614 | 17044 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:108900 | Atrial septal defect with atrioventricular conduction defects | HP:0040283 - Occasional | | | 90 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:217095 | Conotruncal heart malformations | . | | | 90 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 90 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:187500 | Tetralogy of Fallot | . | | | 90 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | NKX2-6 CL E G H | 137814 | 32940 | OMIM:217095 | Conotruncal heart malformations | . | | | 3 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 3 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | HP:0040283 - Occasional | | | 3 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 50 | | |
HP:0011545 | HP:0011555 | Double inlet left ventricle | 3 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0011545 | HP:0031348 | Dextrotransposition of the great arteries | 3 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 452 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | | | | 452 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | HP:0040284 - Very rare | | | 452 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | . | | | 138 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NR2F2 CL E G H | 7026 | 7976 | OMIM:615779 | Congenital heart defects, multiple types, 4 | . | | | 13 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 201 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040283 - Occasional | | | 641 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040283 - Occasional | | | 641 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | . | | | 3 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0011545 | HP:0011555 | Double inlet left ventricle | 3 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | | | | 4 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | . | | | 28 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 120 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 200 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | | | | 22 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | . | | | 40 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 31 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 5 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 58 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SALL4 CL E G H | 57167 | 15924 | OMIM:147750 | Ivic syndrome | | | | 86 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | HP:0040283 - Occasional | HP:0030674 - Antenatal onset | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040284 - Very rare | | | 27 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0011545 | HP:0031348 | Dextrotransposition of the great arteries | 3 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 617 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0011545 | HP:0031348 | Dextrotransposition of the great arteries | 3 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 45 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 15 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 3 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TAB2 CL E G H | 23118 | 17075 | OMIM:614980 | Congenital heart defects, multiple types, 2 | . | | | 11 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 271 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 32 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | TBX1 CL E G H | 6899 | 11592 | OMIM:217095 | Conotruncal heart malformations | . | | | 32 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TBX1 CL E G H | 6899 | 11592 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 32 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TBX1 CL E G H | 6899 | 11592 | OMIM:187500 | Tetralogy of Fallot | . | | | 32 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | TUBG1 CL E G H | 7283 | 12417 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040284 - Very rare | | | 14 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040284 - Very rare | | | 6 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:3303 | Tetralogy of Fallot | HP:0040282 - Frequent | | | 31 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ZFPM2 CL E G H | 23414 | 16700 | OMIM:187500 | Tetralogy of Fallot | . | | | 31 | | |
HP:0011545 | HP:0001636 | Tetralogy of Fallot | 3 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0011545 | HP:0031348 | Dextrotransposition of the great arteries | 3 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0011545 | HP:0001719 | Double outlet right ventricle | 3 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |
HP:0011545 | HP:0031348 | Dextrotransposition of the great arteries | 3 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |
HP:0011545 | HP:0011676 | Tetralogy of Fallot with absent subarterial conus | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011652 | Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011659 | Tetralogy of Fallot with absent pulmonary valve | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011657 | Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0012516 | Tetralogy of Fallot with pulmonary atresia | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011656 | Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011679 | Tetralogy of Fallot with pulmonary stenosis | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011559 | Double inlet to single ventricle with two atrioventricular valves | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011655 | Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011558 | Double inlet to single ventricle with common atrioventricular orifice | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011654 | Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011677 | Tetralogy of Fallot with atrioventricular canal defect | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011653 | Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis | 4 | CL E G H | | | | | | | | | | |
HP:0011545 | HP:0011658 | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | 4 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0011545 | HP:0011658 | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | 4 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0011545 | HP:0011651 | Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis | 4 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040283 - Occasional | | | 3 | | |
HP:0011545 | HP:0011658 | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | 4 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0011545 | HP:0011658 | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | 4 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0011545 | HP:0011678 | Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries | 5 | CL E G H | | | | | | | | | | |