Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | A2ML1 CL E G H | 144568 | 23336 | OMIM:166760 | Otitis media, susceptibility to | | | | 120 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:611465 | GALLBLADDER DISEASE 4; GBD4 | | | | 76 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ADD1 CL E G H | 118 | 243 | OMIM:145500 | Hypertension, essential | . | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ADH1B CL E G H | 125 | 250 | OMIM:103780 | Alcohol dependence | . | | | 2 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ADH1C CL E G H | 126 | 251 | OMIM:103780 | Alcohol dependence | . | | | 4 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ADRB2 CL E G H | 154 | 286 | OMIM:600807 | Asthma, susceptibility to | . | | | 5 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ADRB2 CL E G H | 154 | 286 | OMIM:601665 | OBESITY | | | | 5 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ADRB3 CL E G H | 155 | 288 | OMIM:601665 | OBESITY | | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | AGRP CL E G H | 181 | 330 | OMIM:601665 | OBESITY | | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | AGT CL E G H | 183 | 333 | OMIM:145500 | Hypertension, essential | . | | | 48 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | AGTR1 CL E G H | 185 | 336 | OMIM:145500 | Hypertension, essential | . | | | 33 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ALOX5 CL E G H | 240 | 435 | OMIM:600807 | Asthma, susceptibility to | . | | | 4 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ALOX5AP CL E G H | 241 | 436 | OMIM:601367 | STROKE, ISCHEMIC | | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | APOL1 CL E G H | 8542 | 618 | OMIM:612551 | Focal segmental glomerulosclerosis 4, susceptibility to | | | | 3 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | BAX CL E G H | 581 | 959 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | | | | 4 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | BCR CL E G H | 613 | 1014 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | | | | 5 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:600625 | OROFACIAL CLEFT 11; OFC11 | | | | 38 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:604370 | Breast-Ovarian cancer, familial, susceptibility to, 1 | . | | | 5769 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:612555 | Breast-Ovarian cancer, familial, susceptibility to, 2 | . | | | 7642 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | CARTPT CL E G H | 9607 | 24323 | OMIM:601665 | OBESITY | | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | CCL11 CL E G H | 6356 | 10610 | OMIM:600807 | Asthma, susceptibility to | . | | | 2 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | CFH CL E G H | 3075 | 4883 | OMIM:610698 | Macular degeneration, age-related, 4 | | | | 86 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:150600 | Legg-Calve-Perthes disease | . | | | 284 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | CST3 CL E G H | 1471 | 2475 | OMIM:611953 | Macular degeneration, age-related, 11 | | | | 3 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | CYP3A5 CL E G H | 1577 | 2638 | OMIM:145500 | Hypertension, essential | . | | | 2 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:619478 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4 | | | | 79 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | | | | 304 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ECE1 CL E G H | 1889 | 3146 | OMIM:145500 | Hypertension, essential | . | | | 13 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:601665 | OBESITY | | | | 151 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | F2 CL E G H | 2147 | 3535 | OMIM:601367 | STROKE, ISCHEMIC | | | | 44 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | F5 CL E G H | 2153 | 3542 | OMIM:601367 | STROKE, ISCHEMIC | | | | 159 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | FKBP5 CL E G H | 2289 | 3721 | OMIM:608516 | Major depressive disorder | | | | 2 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | FLRT3 CL E G H | 23767 | 3762 | OMIM:615271 | Hypogonadotropic hypogonadism 21 with or without anosmia | | | | 4 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | FLT3 CL E G H | 2322 | 3765 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | | | | 61 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | FRZB CL E G H | 2487 | 3959 | OMIM:165720 | Osteoarthritis susceptibility 1 | | | | 2 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | GABRA2 CL E G H | 2555 | 4076 | OMIM:103780 | Alcohol dependence | . | | | 4 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | GDF3 CL E G H | 9573 | 4218 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 7 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 64 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | GHRL CL E G H | 51738 | 18129 | OMIM:601665 | OBESITY | | | | 4 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:241550 | HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 | | | | 68 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:220290 | Deafness, autosomal recessive 1A | | | | 199 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | GJB3 CL E G H | 2707 | 4285 | OMIM:220290 | Deafness, autosomal recessive 1A | | | | 74 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:220290 | Deafness, autosomal recessive 1A | | | | 56 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | | | | 12 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | GNB3 CL E G H | 2784 | 4400 | OMIM:145500 | Hypertension, essential | . | | | 5 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | HLA-B CL E G H | 3106 | 4932 | OMIM:106300 | Spondyloarthropathy, susceptibility to, 1 | . | | | 4 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | HLA-C CL E G H | 3107 | 4933 | OMIM:177900 | Psoriasis 1, susceptibility to | . | | | 2 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 2 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | HLA-G CL E G H | 3135 | 4964 | OMIM:600807 | Asthma, susceptibility to | . | | | | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | HNMT CL E G H | 3176 | 5028 | OMIM:600807 | Asthma, susceptibility to | . | | | 3 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | HTR2A CL E G H | 3356 | 5293 | OMIM:103780 | Alcohol dependence | . | | | 4 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | HTR2A CL E G H | 3356 | 5293 | OMIM:608516 | Major depressive disorder | | | | 4 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | IL13 CL E G H | 3596 | 5973 | OMIM:600807 | Asthma, susceptibility to | . | | | 2 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 2 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:608864 | Orofacial cleft 6, susceptibility to | | | | 99 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | LRIF1 CL E G H | 55791 | 30299 | OMIM:619477 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3 | | | | | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | MUC7 CL E G H | 4589 | 7518 | OMIM:600807 | Asthma, susceptibility to | . | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | NBN CL E G H | 4683 | 7652 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | | | | 706 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | NLGN3 CL E G H | 54413 | 14289 | OMIM:300494 | Asperger syndrome, X-linked, susceptibility to, 1 | . | | | 24 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | NLGN4X CL E G H | 57502 | 14287 | OMIM:300495 | Autism, susceptibility to, X-linked 2 | . | | | 57 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:606579 | Vitiligo-Associated multiple autoimmune disease susceptibility 1 | | | | 37 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 187 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:145500 | Hypertension, essential | . | | | 8 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:601367 | STROKE, ISCHEMIC | | | | 8 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | NR0B2 CL E G H | 8431 | 7961 | OMIM:601665 | OBESITY | | | | 4 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | PAX4 CL E G H | 5078 | 8618 | OMIM:612227 | Diabetes mellitus, ketosis-prone | . | | | 55 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | PDCD1 CL E G H | 5133 | 8760 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | PLA2G7 CL E G H | 7941 | 9040 | OMIM:600807 | Asthma, susceptibility to | . | | | 5 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | POMC CL E G H | 5443 | 9201 | OMIM:601665 | OBESITY | | | | 27 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:609338 | CAROTID INTIMAL MEDIAL THICKNESS 1 | | | | 42 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:601665 | OBESITY | | | | 42 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | PRKCH CL E G H | 5583 | 9403 | OMIM:601367 | STROKE, ISCHEMIC | | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | PTGIS CL E G H | 5740 | 9603 | OMIM:145500 | Hypertension, essential | . | | | 3 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | SCGB3A2 CL E G H | 117156 | 18391 | OMIM:600807 | Asthma, susceptibility to | . | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:272120 | Sudden infant death syndrome | . | | | 1134 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | SDC3 CL E G H | 9672 | 10660 | OMIM:601665 | OBESITY | | | | 2 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:610504 | Preterm premature rupture of the membranes | | | | 52 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | SLCO1B1 CL E G H | 10599 | 10959 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | | | | 52 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | SLCO1B3 CL E G H | 28234 | 10961 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | | | | 60 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:613229 | TRICHOTILLOMANIA | . | | | 58 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 | | | | 174 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:209850 | Autism susceptibility 1 | . | | | 37 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | STOX1 CL E G H | 219736 | 23508 | OMIM:609404 | Preeclampsia/eclampsia 4 | | | | 2 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | TAL1 CL E G H | 6886 | 11556 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | | | | | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | TAL2 CL E G H | 6887 | 11557 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | | | | | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | TAS2R16 CL E G H | 50833 | 14921 | OMIM:103780 | Alcohol dependence | . | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | TNF CL E G H | 7124 | 11892 | OMIM:600807 | Asthma, susceptibility to | . | | | 7 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:607107 | Nasopharyngeal carcinoma | | | | 911 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | TPH2 CL E G H | 121278 | 20692 | OMIM:608516 | Major depressive disorder | | | | 31 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0001426 | HP:0001426 | Multifactorial inheritance | 0 | UCP3 CL E G H | 7352 | 12519 | OMIM:601665 | OBESITY | | | | 6 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | A2ML1 CL E G H | 144568 | 23336 | OMIM:166760 | Otitis media, susceptibility to | | | | 120 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | ABCG8 CL E G H | 64241 | 13887 | OMIM:611465 | GALLBLADDER DISEASE 4; GBD4 | | | | 76 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | ADRB2 CL E G H | 154 | 286 | OMIM:601665 | OBESITY | . | | | 5 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | ADRB3 CL E G H | 155 | 288 | OMIM:601665 | OBESITY | . | | | 1 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | AGRP CL E G H | 181 | 330 | OMIM:601665 | OBESITY | . | | | 1 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | APOL1 CL E G H | 8542 | 618 | OMIM:612551 | Focal segmental glomerulosclerosis 4, susceptibility to | . | | | 3 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | BAX CL E G H | 581 | 959 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | . | | | 4 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | BCR CL E G H | 613 | 1014 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | . | | | 5 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | BMP4 CL E G H | 652 | 1071 | OMIM:600625 | OROFACIAL CLEFT 11; OFC11 | | | | 38 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | CARTPT CL E G H | 9607 | 24323 | OMIM:601665 | OBESITY | . | | | 1 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | CFH CL E G H | 3075 | 4883 | OMIM:610698 | Macular degeneration, age-related, 4 | . | | | 86 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | CST3 CL E G H | 1471 | 2475 | OMIM:611953 | Macular degeneration, age-related, 11 | . | | | 3 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | DNMT3B CL E G H | 1789 | 2979 | OMIM:619478 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4 | | | | 79 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | . | | | 304 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | ENPP1 CL E G H | 5167 | 3356 | OMIM:601665 | OBESITY | . | | | 151 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | FKBP5 CL E G H | 2289 | 3721 | OMIM:608516 | Major depressive disorder | | | | 2 | | |
HP:0001426 | HP:0010983 | Oligogenic inheritance | 1 | FLRT3 CL E G H | 23767 | 3762 | OMIM:615271 | Hypogonadotropic hypogonadism 21 with or without anosmia | | | | 4 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | FLT3 CL E G H | 2322 | 3765 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | . | | | 61 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | GDF3 CL E G H | 9573 | 4218 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 7 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | GDF6 CL E G H | 392255 | 4221 | OMIM:613703 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 | | | | 64 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | GHRL CL E G H | 51738 | 18129 | OMIM:601665 | OBESITY | . | | | 4 | | |
HP:0001426 | HP:0010983 | Oligogenic inheritance | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:241550 | HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 | | | | 68 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:220290 | Deafness, autosomal recessive 1A | | | | 199 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | GJB3 CL E G H | 2707 | 4285 | OMIM:220290 | Deafness, autosomal recessive 1A | | | | 74 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:220290 | Deafness, autosomal recessive 1A | | | | 56 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | . | | | 12 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | HTR2A CL E G H | 3356 | 5293 | OMIM:608516 | Major depressive disorder | | | | 4 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | IRF6 CL E G H | 3664 | 6121 | OMIM:608864 | Orofacial cleft 6, susceptibility to | . | | | 99 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | LRIF1 CL E G H | 55791 | 30299 | OMIM:619477 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3 | | | | | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | NBN CL E G H | 4683 | 7652 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | . | | | 706 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:606579 | Vitiligo-Associated multiple autoimmune disease susceptibility 1 | . | | | 37 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | NR0B2 CL E G H | 8431 | 7961 | OMIM:601665 | OBESITY | . | | | 4 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | NUP214 CL E G H | 8021 | 8064 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | . | | | 1 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | POMC CL E G H | 5443 | 9201 | OMIM:601665 | OBESITY | . | | | 27 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | PPARG CL E G H | 5468 | 9236 | OMIM:609338 | CAROTID INTIMAL MEDIAL THICKNESS 1 | | | | 42 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | PPARG CL E G H | 5468 | 9236 | OMIM:601665 | OBESITY | . | | | 42 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | SDC3 CL E G H | 9672 | 10660 | OMIM:601665 | OBESITY | . | | | 2 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | SERPINH1 CL E G H | 871 | 1546 | OMIM:610504 | Preterm premature rupture of the membranes | . | | | 52 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | SLCO1B1 CL E G H | 10599 | 10959 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | | | | 52 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | SLCO1B3 CL E G H | 28234 | 10961 | OMIM:237450 | Hyperbilirubinemia, Rotor type, digenic | | | | 60 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 | | | | 174 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | STOX1 CL E G H | 219736 | 23508 | OMIM:609404 | Preeclampsia/eclampsia 4 | | | | 2 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | TAL1 CL E G H | 6886 | 11556 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | . | | | | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | TAL2 CL E G H | 6887 | 11557 | OMIM:613065 | Leukemia, acute lymphocytic, susceptibility to, 1 | . | | | | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | TP53 CL E G H | 7157 | 11998 | OMIM:607107 | Nasopharyngeal carcinoma | . | | | 911 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | TPH2 CL E G H | 121278 | 20692 | OMIM:608516 | Major depressive disorder | | | | 31 | | |
HP:0001426 | HP:0010984 | Digenic inheritance | 1 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0001426 | HP:0010982 | Polygenic inheritance | 1 | UCP3 CL E G H | 7352 | 12519 | OMIM:601665 | OBESITY | . | | | 6 | | |