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:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | | | | 17 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | COQ4 CL E G H | 51117 | 19693 | OMIM:616276 | Coenzyme Q10 deficiency, primary, 7 | | | | 24 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | DTNA CL E G H | 1837 | 3057 | OMIM:604169 | Left ventricular noncompaction 1 | | | | 163 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | FOXF1 CL E G H | 2294 | 3809 | ORPHA:210122 | Congenital alveolar capillary dysplasia | | | | 61 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:402075 | Familial bicuspid aortic valve | | | | 10 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:614474 | Atrioventricular septal defect 5 | | | | 37 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2248 | Hypoplastic left heart syndrome | | | | 68 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:241550 | HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 | | | | 68 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | | | | 5 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | | | | 69 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:402075 | Familial bicuspid aortic valve | | | | 90 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:2248 | Hypoplastic left heart syndrome | | | | 90 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:614435 | Hypoplastic left heart syndrome 2 | | | | 90 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:402075 | Familial bicuspid aortic valve | | | | 452 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | NR2F2 CL E G H | 7026 | 7976 | OMIM:618901 | 46,XX SEX REVERSAL 5; SRXX5 | | | | 13 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | NR2F2 CL E G H | 7026 | 7976 | OMIM:615779 | Congenital heart defects, multiple types, 4 | | | | 13 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | | | | 3 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | SMAD6 CL E G H | 4091 | 6772 | ORPHA:402075 | Familial bicuspid aortic valve | | | | 33 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | | | | 1 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | | | | 32 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | TBX5 CL E G H | 6910 | 11604 | ORPHA:392 | Holt-Oram syndrome | | | | 123 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | | | | 123 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | | | | | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | | | | 177 | | |
HP:0045017 | HP:0045017 | Congenital malformation of the left heart | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | ARHGAP31 CL E G H | 57514 | 29216 | OMIM:100300 | Adams-Oliver syndrome 1 | | | | 147 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040284 - Very rare | | | 36 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | CFAP53 CL E G H | 220136 | 26530 | OMIM:614779 | Heterotaxy, visceral, 6, autosomal | | | | 17 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | CIROP CL E G H | 100128908 | 53647 | OMIM:619702 | HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 | | | | | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | COQ4 CL E G H | 51117 | 19693 | OMIM:616276 | Coenzyme Q10 deficiency, primary, 7 | HP:0040284 - Very rare | | | 24 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | DTNA CL E G H | 1837 | 3057 | OMIM:604169 | Left ventricular noncompaction 1 | . | | | 163 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | FOXF1 CL E G H | 2294 | 3809 | ORPHA:210122 | Congenital alveolar capillary dysplasia | HP:0040282 - Frequent | | | 61 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | GATA5 CL E G H | 140628 | 15802 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040284 - Very rare | | | 10 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | GATA6 CL E G H | 2627 | 4174 | OMIM:614474 | Atrioventricular septal defect 5 | | | | 37 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2248 | Hypoplastic left heart syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:241550 | HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 | | | | 68 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | . | | | 2 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | . | | | 5 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040283 - Occasional | | | 3 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | . | | | 2 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | NADSYN1 CL E G H | 55191 | 29832 | OMIM:618845 | VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3 | | | | | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040284 - Very rare | | | 90 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:2248 | Hypoplastic left heart syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:614435 | Hypoplastic left heart syndrome 2 | . | | | 90 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040284 - Very rare | | | 452 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | NR2F2 CL E G H | 7026 | 7976 | OMIM:618901 | 46,XX SEX REVERSAL 5; SRXX5 | | | | 13 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | NR2F2 CL E G H | 7026 | 7976 | OMIM:615779 | Congenital heart defects, multiple types, 4 | . | | | 13 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040282 - Frequent | | | 641 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | PKD1L1 CL E G H | 168507 | 18053 | OMIM:617205 | Heterotaxy, visceral, 8, autosomal | . | | | 3 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | SMAD6 CL E G H | 4091 | 6772 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040284 - Very rare | | | 33 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | HP:0040284 - Very rare | | | 1 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | TBX5 CL E G H | 6910 | 11604 | ORPHA:392 | Holt-Oram syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | TBX5 CL E G H | 6910 | 11604 | OMIM:142900 | Holt-Oram syndrome | . | | | 123 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0045017 | HP:0004383 | Hypoplastic left heart | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |