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:0000716 | HP:0000716 | Depression | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | . | | | 143 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | . | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 146 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 111 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 530 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0000716 | HP:0000716 | Depression | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:101109 | Spinocerebellar ataxia type 28 | HP:0040284 - Very rare | | | 86 | | |
HP:0000716 | HP:0000716 | Depression | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0000716 | HP:0000716 | Depression | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | . | | | 44 | | |
HP:0000716 | HP:0000716 | Depression | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | HP:0040283 - Occasional | | | 6 | | |
HP:0000716 | HP:0000716 | Depression | 0 | AR CL E G H | 367 | 644 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 125 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ARMC5 CL E G H | 79798 | 25781 | OMIM:615954 | ACTH-independent macronodular adrenal hyperplasia 2 | . | | | 7 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | HP:0040282 - Frequent | | | 7 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 253 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040284 - Very rare | | | 100 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | . | | | 150 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | HP:0040283 - Occasional | | | 150 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 144 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 169 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | . | | | 9 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | HP:0040283 - Occasional | | | 9 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000716 | HP:0000716 | Depression | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0000716 | HP:0000716 | Depression | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040282 - Frequent | | | 385 | | |
HP:0000716 | HP:0000716 | Depression | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 276 | | |
HP:0000716 | HP:0000716 | Depression | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0000716 | HP:0000716 | Depression | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 56 | | |
HP:0000716 | HP:0000716 | Depression | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0000716 | HP:0000716 | Depression | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 56 | | |
HP:0000716 | HP:0000716 | Depression | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:401901 | Huntington disease-like syndrome due to C9ORF72 expansions | HP:0040283 - Occasional | | | 56 | | |
HP:0000716 | HP:0000716 | Depression | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 56 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CABP4 CL E G H | 57010 | 1386 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 94 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040282 - Frequent | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CACNA1H CL E G H | 8912 | 1395 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 75 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | CASR CL E G H | 846 | 1514 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040281 - Very frequent | | | 272 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | . | | | 242 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 636 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 636 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | HP:0040283 - Occasional | | | 9 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CEP85L CL E G H | 387119 | 21638 | OMIM:618873 | LISSENCEPHALY 10; LIS10 | | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 11 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 515 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 42 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 42 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CHRNA2 CL E G H | 1135 | 1956 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 188 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CHRNA4 CL E G H | 1137 | 1958 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 225 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CHRNB2 CL E G H | 1141 | 1962 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 88 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 15 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CISD2 CL E G H | 493856 | 24212 | OMIM:604928 | Wolfram syndrome 2 | . | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | . | | | 45 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | . | | | 143 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | HP:0040283 - Occasional | | | 60 | | |
HP:0000716 | HP:0000716 | Depression | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0000716 | HP:0000716 | Depression | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040283 - Occasional | | | 263 | | |
HP:0000716 | HP:0000716 | Depression | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040282 - Frequent | | | 263 | | |
HP:0000716 | HP:0000716 | Depression | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000716 | HP:0000716 | Depression | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0000716 | HP:0000716 | Depression | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0000716 | HP:0000716 | Depression | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | . | | | 72 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CRH CL E G H | 1392 | 2355 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | . | | | 149 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CTSF CL E G H | 8722 | 2531 | OMIM:615362 | Ceroid lipofuscinosis, neuronal, 13 | . | | | 20 | | |
HP:0000716 | HP:0000716 | Depression | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 86 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:178509 | Perry syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040284 - Very rare | | | 172 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 172 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | HP:0040283 - Occasional | | | 57 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | . | | | 155 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 6 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | . | | | 145 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DRD2 CL E G H | 1813 | 3023 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000716 | HP:0000716 | Depression | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 4 | | |
HP:0000716 | HP:0000716 | Depression | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0000716 | HP:0000716 | Depression | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000716 | HP:0000716 | Depression | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 170 | | |
HP:0000716 | HP:0000716 | Depression | 0 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0000716 | HP:0000716 | Depression | 0 | EPM2A CL E G H | 7957 | 3413 | ORPHA:501 | Lafora disease | HP:0040282 - Frequent | | | 83 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 15 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 33 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040284 - Very rare | | | 76 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | HP:0040283 - Occasional | | | 47 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 17 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 172 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 111 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FKBP5 CL E G H | 2289 | 3721 | OMIM:608516 | Major depressive disorder | | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | FLT4 CL E G H | 2324 | 3767 | OMIM:618780 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7 | | | | 90 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FMO3 CL E G H | 2328 | 3771 | ORPHA:468726 | Severe primary trimethylaminuria | HP:0040283 - Occasional | | | 55 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | | | | 55 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040283 - Occasional | | | 30 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 105 | | |
HP:0000716 | HP:0000716 | Depression | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 105 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 134 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GABRB3 CL E G H | 2562 | 4083 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 57 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 139 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 139 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040283 - Occasional | | | 351 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | . | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | . | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040283 - Occasional | | | 291 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 45 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040281 - Very frequent | | | 16 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | . | | | 101 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | HP:0040282 - Frequent | | | 101 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040283 - Occasional | | | 101 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040283 - Occasional | | | 101 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 15 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 92 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040283 - Occasional | | | 434 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 434 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 126 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040284 - Very rare | | | 53 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040282 - Frequent | | | 4 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040282 - Frequent | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | . | | | 81 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 8 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HTR2A CL E G H | 3356 | 5293 | OMIM:608516 | Major depressive disorder | | | | 4 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HTR2A CL E G H | 3356 | 5293 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 4 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 39 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HTT CL E G H | 3064 | 4851 | OMIM:143100 | Huntington disease | . | | | 12 | | |
HP:0000716 | HP:0000716 | Depression | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:248111 | Juvenile Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0000716 | HP:0000716 | Depression | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0000716 | HP:0000716 | Depression | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0000716 | HP:0000716 | Depression | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | JPH3 CL E G H | 57338 | 14203 | OMIM:606438 | Huntington disease-like 2 | . | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | JRK CL E G H | 8629 | 6199 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0000716 | HP:0000716 | Depression | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | KCNT1 CL E G H | 57582 | 18865 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | HP:0040283 - Occasional | | | 321 | | |
HP:0000716 | HP:0000716 | Depression | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:615005 | Epilepsy, nocturnal frontal lobe, 5 | . | | | 321 | | |
HP:0000716 | HP:0000716 | Depression | 0 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | . | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | KCTD17 CL E G H | 79734 | 25705 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 14 | | |
HP:0000716 | HP:0000716 | Depression | 0 | KMT2B CL E G H | 9757 | 15840 | ORPHA:589618 | Dystonia 28 | | | | 11 | | |
HP:0000716 | HP:0000716 | Depression | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0000716 | HP:0000716 | Depression | 0 | LGI1 CL E G H | 9211 | 6572 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040284 - Very rare | | | 75 | | |
HP:0000716 | HP:0000716 | Depression | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:169500 | Leukodystrophy, adult-onset, autosomal dominant | . | | | 44 | | |
HP:0000716 | HP:0000716 | Depression | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0000716 | HP:0000716 | Depression | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 221 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 5 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 140 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240085 | Progressive supranuclear palsy-parkinsonism syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 80 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | . | | | 950 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0000716 | HP:0000716 | Depression | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 1819 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 131 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040282 - Frequent | | | 6 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 2162 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 2232 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 516 | | |
HP:0000716 | HP:0000716 | Depression | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 516 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 24 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 101 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NHLRC1 CL E G H | 378884 | 21576 | ORPHA:501 | Lafora disease | HP:0040282 - Frequent | | | 77 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 14 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 79 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0000716 | HP:0000716 | Depression | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 6 | | |
HP:0000716 | HP:0000716 | Depression | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040281 - Very frequent | | | 88 | | |
HP:0000716 | HP:0000716 | Depression | 0 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0000716 | HP:0000716 | Depression | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040282 - Frequent | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | HP:0040282 - Frequent | | | 641 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | HP:0040282 - Frequent | | | 55 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 23 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 352 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PDCD1 CL E G H | 5133 | 8760 | OMIM:126200 | Multiple sclerosis, susceptibility to | . | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | . | | | 9 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:615007 | Basal ganglia calcification, idiopathic, 4 | . | | | 28 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:616592 | Kosaki overgrowth syndrome | . | | | 28 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 40 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PER2 CL E G H | 8864 | 8846 | OMIM:604348 | Advanced sleep phase syndrome, familial, 1 | . | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PER3 CL E G H | 8863 | 8847 | OMIM:616882 | Advanced sleep phase syndrome, familial, 3 | . | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 6 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 162 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PINK1 CL E G H | 65018 | 14581 | OMIM:605909 | Parkinson disease 6, autosomal recessive early-onset | . | | | 55 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 55 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040283 - Occasional | | | 133 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 1121 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 6 | | |
HP:0000716 | HP:0000716 | Depression | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0000716 | HP:0000716 | Depression | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0000716 | HP:0000716 | Depression | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0000716 | HP:0000716 | Depression | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0000716 | HP:0000716 | Depression | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0000716 | HP:0000716 | Depression | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040283 - Occasional | | | 464 | | |
HP:0000716 | HP:0000716 | Depression | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0000716 | HP:0000716 | Depression | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PPP2R2B CL E G H | 5521 | 9305 | OMIM:604326 | Spinocerebellar ataxia 12 | . | | | 5 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | . | | | 83 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 138 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:123400 | Creutzfeldt-Jakob disease | . | | | 69 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:280397 | Familial Alzheimer-like prion disease | HP:0040281 - Very frequent | | | 69 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:603218 | Huntington disease-like 1 | . | | | 69 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040282 - Frequent | | | 69 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 9 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 34 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 25 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 81 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:619491 | PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24 | | | | 81 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 241 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040282 - Frequent | | | 3 | | |
HP:0000716 | HP:0000716 | Depression | 0 | PTS CL E G H | 5805 | 9689 | ORPHA:13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | HP:0040283 - Occasional | | | 19 | | |
HP:0000716 | HP:0000716 | Depression | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:101046 | Autosomal dominant epilepsy with auditory features | HP:0040284 - Very rare | | | 334 | | |
HP:0000716 | HP:0000716 | Depression | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:276630 | Symptomatic form of Coffin-Lowry syndrome in female carriers | HP:0040283 - Occasional | | | 65 | | |
HP:0000716 | HP:0000716 | Depression | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0000716 | HP:0000716 | Depression | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | . | | | 125 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:440437 | Familial colorectal cancer Type X | HP:0040282 - Frequent | | | 48 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SGCE CL E G H | 8910 | 10808 | OMIM:159900 | Dystonia 11, myoclonic | . | | | 49 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SGCE CL E G H | 8910 | 10808 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:64280 | Childhood absence epilepsy | HP:0040283 - Occasional | | | 255 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | SLC6A4 CL E G H | 6532 | 11050 | OMIM:164230 | Obsessive-Compulsive disorder 1 | | | | 52 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SLC7A6OS CL E G H | 84138 | 25807 | OMIM:619191 | EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12 | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 135 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040284 - Very rare | | | 164 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 65 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 53 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 5 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 62 | | |
HP:0000716 | HP:0000716 | Depression | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | HP:0040283 - Occasional | | | 50 | | |
HP:0000716 | HP:0000716 | Depression | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000716 | HP:0000716 | Depression | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000716 | HP:0000716 | Depression | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000716 | HP:0000716 | Depression | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0000716 | HP:0000716 | Depression | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0000716 | HP:0000716 | Depression | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040283 - Occasional | | | 86 | | |
HP:0000716 | HP:0000716 | Depression | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 9 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 6 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 34 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 65 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 65 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TBC1D7 CL E G H | 51256 | 21066 | OMIM:248000 | Macrocephaly/megalencephaly syndrome, autosomal recessive | . | | | 4 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 20 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TET3 CL E G H | 200424 | 28313 | OMIM:618798 | BECK-FAHRNER SYNDROME; BEFAHRS | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040282 - Frequent | | | 253 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0000716 | HP:0000716 | Depression | 0 | THOC2 CL E G H | 57187 | 19073 | OMIM:300957 | Mental retardation, X-linked 12/35 | | | | 5 | | |
HP:0000716 | HP:0000716 | Depression | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 103 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | . | | | 47 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TOR1A CL E G H | 1861 | 3098 | ORPHA:36899 | Myoclonus-dystonia syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 911 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TPH2 CL E G H | 121278 | 20692 | OMIM:613003 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 | | | | 31 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TPH2 CL E G H | 121278 | 20692 | OMIM:608516 | Major depressive disorder | | | | 31 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 31 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040283 - Occasional | | | 56 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040284 - Very rare | | | 9 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | . | | | 88 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0000716 | HP:0000716 | Depression | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0000716 | HP:0000716 | Depression | 0 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0000716 | HP:0000716 | Depression | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 21 | | |
HP:0000716 | HP:0000716 | Depression | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 173 | | |
HP:0000716 | HP:0000716 | Depression | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 78 | | |
HP:0000716 | HP:0000716 | Depression | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 777 | | |
HP:0000716 | HP:0000716 | Depression | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 1 | | |
HP:0000716 | HP:0000716 | Depression | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 7 | | |
HP:0000716 | HP:0000716 | Depression | 0 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 116 | | |
HP:0000716 | HP:0000716 | Depression | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040283 - Occasional | | | 63 | | |
HP:0000716 | HP:0000716 | Depression | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 63 | | |
HP:0000716 | HP:0000716 | Depression | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0000716 | HP:0000716 | Depression | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275872 | Frontotemporal dementia with motor neuron disease | HP:0040282 - Frequent | | | 63 | | |
HP:0000716 | HP:0000716 | Depression | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040282 - Frequent | | | 63 | | |
HP:0000716 | HP:0000716 | Depression | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0000716 | HP:0000716 | Depression | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040282 - Frequent | | | 8 | | |
HP:0000716 | HP:0000716 | Depression | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |
HP:0000716 | HP:0000716 | Depression | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000716 | HP:0000716 | Depression | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0000716 | HP:0000716 | Depression | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 10 | | |
HP:0000716 | HP:0000716 | Depression | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | HP:0040281 - Very frequent | | | 389 | | |
HP:0000716 | HP:0000716 | Depression | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:614296 | Wolfram-Like syndrome, autosomal dominant | . | | | 389 | | |
HP:0000716 | HP:0000716 | Depression | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 155 | | |
HP:0000716 | HP:0000716 | Depression | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | . | | | 8 | | |
HP:0000716 | HP:0000716 | Depression | 0 | XPR1 CL E G H | 9213 | 12827 | OMIM:616413 | Basal ganglia calcification, idiopathic, 6 | . | | | 4 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0000716 | HP:0000716 | Depression | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |