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:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | | | | 50 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 116 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | HP:0040284 - Very rare | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | DNAJC3 CL E G H | 5611 | 9439 | ORPHA:445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 106 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 54 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 158 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040282 - Frequent | | | 83 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040282 - Frequent | | | 199 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040282 - Frequent | | | 55 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | HP:0040281 - Very frequent | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040281 - Very frequent | | | 11 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | MANBA CL E G H | 4126 | 6831 | OMIM:248510 | MANNOSIDOSIS, BETA A, LYSOSOMAL | HP:0040283 - Occasional | | | 55 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | | | | 37 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | HP:0040281 - Very frequent | | | 82 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | | 118 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280234 | Null syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | | | | 79 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040282 - Frequent | | | 79 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040281 - Very frequent | | | 79 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:139393 | GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS | | | | 79 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | RFC1 CL E G H | 5981 | 9969 | ORPHA:504476 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | HP:0040282 - Frequent | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040282 - Frequent | | | 309 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040282 - Frequent | | | 493 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | | | | 163 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | TFG CL E G H | 10342 | 11758 | OMIM:615658 | Spastic paraplegia 57, autosomal recessive | | | | 18 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0007108 | HP:0007108 | Demyelinating peripheral neuropathy | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | HP:0040282 - Frequent | | | 189 | | |
HP:0007108 | HP:0007220 | Demyelinating motor neuropathy | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0007108 | HP:0007131 | Acute demyelinating polyneuropathy | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0007108 | HP:0007220 | Demyelinating motor neuropathy | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040281 - Very frequent | | | 118 | | |
HP:0007108 | HP:0011402 | Demyelinating sensory neuropathy | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040281 - Very frequent | | | 118 | | |
HP:0007108 | HP:0007220 | Demyelinating motor neuropathy | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040281 - Very frequent | | | 118 | | |
HP:0007108 | HP:0011402 | Demyelinating sensory neuropathy | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040281 - Very frequent | | | 118 | | |
HP:0007108 | HP:0007131 | Acute demyelinating polyneuropathy | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | HP:0040280 - Obligate | | | 79 | | |
HP:0007108 | HP:0007131 | Acute demyelinating polyneuropathy | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040283 - Occasional | | | 79 | | |
HP:0007108 | HP:0007131 | Acute demyelinating polyneuropathy | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:139393 | GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS | | | | 79 | | |
HP:0007108 | HP:0007131 | Acute demyelinating polyneuropathy | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0007108 | HP:0007220 | Demyelinating motor neuropathy | 1 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | HP:0040282 - Frequent | | | | | |
HP:0007108 | HP:0007220 | Demyelinating motor neuropathy | 1 | TFG CL E G H | 10342 | 11758 | OMIM:615658 | Spastic paraplegia 57, autosomal recessive | | | | 18 | | |