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:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 54 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 184 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | CTSH CL E G H | 1512 | 2535 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | | | 152 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | . | | | 145 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:614116 | Neuropathy, hereditary sensory, type IE | . | | | 145 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 91 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | . | | | 44 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040283 - Occasional | | | 64 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:101075 | X-linked Charcot-Marie-Tooth disease type 1 | HP:0040283 - Occasional | | | 107 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | HCRT CL E G H | 3060 | 4847 | OMIM:161400 | Narcolepsy 1 | . | | | 1 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | HCRT CL E G H | 3060 | 4847 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | HCRT CL E G H | 3060 | 4847 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | 1 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | 2 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | . | | | 35 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 46 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 4 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | MOG CL E G H | 4340 | 7197 | OMIM:614250 | Narcolepsy 7 | . | | | 1 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | MOG CL E G H | 4340 | 7197 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040283 - Occasional | | | 88 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 72 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 220 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | P2RY11 CL E G H | 5032 | 8540 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 9 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 162 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:99014 | X-linked Charcot-Marie-Tooth disease type 5 | HP:0040283 - Occasional | | | 49 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | . | | | 19 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 73 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 2 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 87 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 47 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 22 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 124 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | HP:0040283 - Occasional | | | 271 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 20 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 238 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 6 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 3 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TNFSF4 CL E G H | 7292 | 11934 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 71 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 2 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 106 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 5 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | ZNF365 CL E G H | 22891 | 18194 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 3 | | |
HP:0001262 | HP:0001262 | Excessive daytime somnolence | 0 | ZNF365 CL E G H | 22891 | 18194 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | 3 | | |