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:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | . | | | 27 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ANO3 CL E G H | 63982 | 14004 | OMIM:615034 | Dystonia 24 | . | | | 17 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | . | | | 71 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | . | | | 239 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | . | | | 150 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | . | | | 9 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | BMPR2 CL E G H | 659 | 1078 | OMIM:178600 | Pulmonary hypertension, primary, 1 | | | | 525 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 7642 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | . | | | 449 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | . | | | 247 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:613855 | Episodic ataxia, type 5 | . | | | 146 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:615343 | Pulmonary hypertension, primary, 3 | . | | | 11 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CDH23 CL E G H | 64072 | 13733 | OMIM:617540 | Pituitary adenoma 5, multiple types | . | | | 636 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | . | | | 13 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CHRNA2 CL E G H | 1135 | 1956 | OMIM:610353 | Epilepsy, nocturnal frontal lobe, 4 | . | | | 188 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CHRNA4 CL E G H | 1137 | 1958 | OMIM:600513 | Epilepsy, nocturnal frontal lobe, type 1 | . | | | 225 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CHRNA7 CL E G H | 1139 | 1960 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | 52 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:617924 | Epilepsy, juvenile myoclonic, susceptibility to, 10 | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:605635 | Hyperaldosteronism, familial, type II | . | | | 44 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | COL4A2 CL E G H | 1284 | 2203 | OMIM:614483 | PORENCEPHALY 2; POREN2 | | | | 147 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | . | | | 72 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CRELD1 CL E G H | 78987 | 14630 | OMIM:606217 | Atrioventricular septal defect, susceptibility to, 2 | . | | | 19 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 88 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | DCC CL E G H | 1630 | 2701 | OMIM:157600 | Mirror movements 1 | . | | | 36 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | DCX CL E G H | 1641 | 2714 | OMIM:300067 | Lissencephaly, X-linked, 1 | . | | | 145 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | . | | | 23 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | DEPDC5 CL E G H | 9681 | 18423 | OMIM:604364 | Epilepsy, familial focal, with variable foci | . | | | 172 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | DLST CL E G H | 1743 | 2911 | OMIM:618475 | Paragangliomas 7 | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | DLX5 CL E G H | 1749 | 2918 | OMIM:183600 | Split-Hand/foot malformation 1 | . | | | 3 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:610805 | Congenital anomalies of kidney and urinary tract, susceptibility to | . | | | 13 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | . | | | 62 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 133 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | EPHB4 CL E G H | 2050 | 3395 | OMIM:618196 | Capillary malformation-arteriovenous malformation 2 | . | | | 3 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | . | | | 12 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | . | | | 135 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | FGF23 CL E G H | 8074 | 3680 | OMIM:193100 | Hypophosphatemic rickets, autosomal dominant | . | | | 51 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | . | | | 172 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | FH CL E G H | 2271 | 3700 | OMIM:150800 | Hereditary leiomyomatosis and renal cell cancer | . | | | 301 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:173600 | Pneumothorax, primary spontaneous | . | | | 332 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | . | | | 30 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:617349 | AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11 | | | | 23 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GABRB3 CL E G H | 2562 | 4083 | OMIM:612269 | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5 | | | | 57 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GABRG2 CL E G H | 2566 | 4087 | OMIM:607681 | Febrile seizures, familial, 8 | . | | | 139 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GATA5 CL E G H | 140628 | 15802 | OMIM:617912 | Congenital heart defects, multiple types, 5 | . | | | 10 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 39 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | . | | | 34 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | . | | | 107 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613480 | Lymphedema, hereditary, IC | . | | | 37 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | . | | | 173 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GPR161 CL E G H | 23432 | 23694 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 2 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GREB1L CL E G H | 80000 | 31042 | OMIM:617805 | Renal hypodysplasia/aplasia 3 | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | GRIN2A CL E G H | 2903 | 4585 | OMIM:245570 | EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD | | | | 434 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | HCN1 CL E G H | 348980 | 4845 | OMIM:618482 | Generalized epilepsy with febrile seizures plus, type 10 | . | | | 54 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | . | | | 5 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | . | | | 28 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | INAVA CL E G H | 55765 | 25599 | OMIM:618077 | INFLAMMATORY BOWEL DISEASE 29; IBD29 | | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:617921 | Amyotrophic lateral sclerosis, susceptibility to, 25 | . | | | 93 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | KLF13 CL E G H | 51621 | 13672 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | . | | | 11 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | KRIT1 CL E G H | 889 | 1573 | OMIM:116860 | Cerebral cavernous malformations 1 | . | | | 92 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:617875 | Polycystic liver disease 4 with or without kidney cysts | . | | | 125 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | . | | | 102 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:615670 | Schwannomatosis 2 | . | | | 43 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | MET CL E G H | 4233 | 7029 | OMIM:605074 | RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 | | | | 375 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | . | | | 203 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 1 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | . | | | 17 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:614350 | Colorectal cancer, hereditary nonpolyposis, type 5 | . | | | 2232 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 220 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | NF2 CL E G H | 4771 | 7773 | OMIM:162091 | SCHWANNOMATOSIS | . | | | 220 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | . | | | 99 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | NPRL2 CL E G H | 10641 | 24969 | OMIM:617116 | Epilepsy, familial focal, with variable foci 2 | . | | | 4 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | NPRL3 CL E G H | 8131 | 14124 | OMIM:617118 | Epilepsy, familial focal, with variable foci 3 | . | | | 7 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | NR5A1 CL E G H | 2516 | 7983 | OMIM:617480 | 46,xx sex reversal 4 | . | | | 38 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | NRIP1 CL E G H | 8204 | 8001 | OMIM:618270 | Congenital anomalies of kidney and urinary tract 3 | . | | | 1 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | . | | | 214 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:619986 | | | | | 3 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616371 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4 | | | | 26 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:616002 | Focal segmental glomerulosclerosis 7 | . | | | 39 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 9 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PITX1 CL E G H | 5307 | 9004 | OMIM:119800 | CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF | | | | 8 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | . | | | 106 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | POT1 CL E G H | 25913 | 17284 | OMIM:616568 | Glioma susceptibility 9 | . | | | 23 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | POT1 CL E G H | 25913 | 17284 | OMIM:615848 | Melanoma, cutaneous malignant, susceptibility to, 10 | . | | | 23 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PRCC CL E G H | 5546 | 9343 | OMIM:605074 | RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 | | | | | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | . | | | 83 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | . | | | 9 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | . | | | 34 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | . | | | 94 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PRRT2 CL E G H | 112476 | 30500 | OMIM:128200 | Episodic kinesigenic dyskinesia 1 | . | | | 94 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PRRT2 CL E G H | 112476 | 30500 | OMIM:605751 | Seizures, benign familial infantile, 2 | . | | | 94 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | . | | | 665 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 40 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 948 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | . | | | 1 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | RAD51 CL E G H | 5888 | 9817 | OMIM:614508 | Mirror movements 2 | | | | 9 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | RANBP2 CL E G H | 5903 | 9848 | OMIM:608033 | Encephalopathy, acute, infection-induced, susceptibility to, 3 | . | | | 57 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | RBM12 CL E G H | 10137 | 9898 | OMIM:617629 | Schizophrenia 19 | . | | | 2 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | RELN CL E G H | 5649 | 9957 | OMIM:616436 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7 | | | | 334 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | RORB CL E G H | 6096 | 10259 | OMIM:618357 | Epilepsy, idiopathic generalized, susceptibility to, 15 | . | | | 3 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | RPS29 CL E G H | 6235 | 10419 | OMIM:615909 | Diamond-Blackfan anemia 13 | . | | | 3 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:616373 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3 | | | | 77 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:604233 | Generalized epilepsy with febrile seizures plus, type 1 | . | | | 126 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | . | | | 263 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | . | | | 237 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SGCE CL E G H | 8910 | 10808 | OMIM:159900 | Dystonia 11, myoclonic | . | | | 49 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SHH CL E G H | 6469 | 10848 | OMIM:142945 | Holoprosencephaly 3 | . | | | 67 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SHH CL E G H | 6469 | 10848 | OMIM:611638 | Microphthalmia, isolated, with coloboma 5 | . | | | 67 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | . | | | 32 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616685 | Epilepsy, idiopathic generalized, susceptibility to, 14 | . | | | 8 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:614847 | Epilepsy, idiopathic generalized, susceptibility to, 12 | . | | | 255 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | . | | | 255 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SMAD9 CL E G H | 4093 | 6774 | OMIM:615342 | Pulmonary hypertension, primary, 2 | . | | | 132 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:162091 | SCHWANNOMATOSIS | . | | | 87 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 47 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614892 | Immunodeficiency 31A | . | | | 89 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:155255 | MEDULLOBLASTOMA | . | | | 124 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:607174 | Meningioma, familial, susceptibility to | . | | | 124 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:617900 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | . | | | 20 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TENM4 CL E G H | 26011 | 29945 | OMIM:616736 | Tremor, hereditary essential, 5 | . | | | 5 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TERC CL E G H | 7012 | 11727 | OMIM:614743 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 | . | | | 48 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | THAP1 CL E G H | 55145 | 20856 | OMIM:602629 | Dystonia 6, torsion | | | | 42 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TICAM1 CL E G H | 148022 | 18348 | OMIM:614850 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 | . | | | 6 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TLR3 CL E G H | 7098 | 11849 | OMIM:613002 | Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2 | . | | | 3 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TM4SF20 CL E G H | 79853 | 26230 | OMIM:615432 | SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5 | | | | 3 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | | | | 47 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | . | | | 214 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | TTN CL E G H | 7273 | 12403 | OMIM:600334 | Tibial muscular dystrophy, tardive | . | | | 7128 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:613643 | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5 | | | | 21 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | . | | | 10 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | VWF CL E G H | 7450 | 12726 | OMIM:193400 | Von willebrand disease, type 1 | . | | | 533 | | |
HP:0003829 | HP:0003829 | Typified by incomplete penetrance | 0 | WNT10B CL E G H | 7480 | 12775 | OMIM:225300 | SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 | | | | 4 | | |