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:0000763 | HP:0000763 | Sensory neuropathy | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | . | | | 60 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300614 | Deafness, X-linked 5 | | | | 60 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | | | | 60 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:101078 | X-linked Charcot-Marie-Tooth disease type 4 | HP:0040281 - Very frequent | | | 60 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040283 - Occasional | | | 114 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | . | | | 125 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ARL6IP1 CL E G H | 23204 | 697 | OMIM:615685 | Spastic paraplegia 61, autosomal recessive | . | | | 1 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | | | | 71 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ATL3 CL E G H | 25923 | 24526 | OMIM:615632 | Neuropathy, hereditary sensory, type IF | | | | 5 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | | | | 100 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:551500 | Neuropathy, ataxia, and retinitis pigmentosa | . | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ATXN8 CL E G H | 724066 | 32925 | OMIM:608768 | Spinocerebellar ataxia 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:608768 | Spinocerebellar ataxia 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | . | | | 449 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | | | | 56 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | CRAT CL E G H | 1384 | 2342 | OMIM:617917 | Neurodegeneration with brain iron accumulation 8 | . | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | | | | 159 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | | | | 57 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | | | | 21 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040283 - Occasional | | | 3 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:614116 | Neuropathy, hereditary sensory, type IE | . | | | 145 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | . | | | 108 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:247604 | Juvenile primary lateral sclerosis | HP:0040283 - Occasional | | | 18 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | | | | 47 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | . | | | 18 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | | | | 121 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | . | | | 107 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:101075 | X-linked Charcot-Marie-Tooth disease type 1 | HP:0040281 - Very frequent | | | 107 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | | | | 12 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 31 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 5 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | | | | 16 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | | | | 1 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | HP:0040282 - Frequent | | | 47 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | | | | 47 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040283 - Occasional | | | 214 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | | | | 2 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PLEKHG4 CL E G H | 25894 | 24501 | ORPHA:98765 | Spinocerebellar ataxia type 4 | | | | 4 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:99015 | Spastic paraplegia type 2 | HP:0040283 - Occasional | | | 60 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | HP:0040283 - Occasional | | | 60 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:608703 | Spinocerebellar ataxia 25 | . | | | 60 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | HP:0040282 - Frequent | | | 60 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 464 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | | | | 464 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | | | | 464 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 464 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PRICKLE1 CL E G H | 144165 | 17019 | OMIM:612437 | Epilepsy, progressive myoclonic 1B | | | | 133 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:99014 | X-linked Charcot-Marie-Tooth disease type 5 | HP:0040281 - Very frequent | | | 49 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | . | | | 50 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:608984 | Ataxia, sensory, autosomal dominant | | | | 3 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TDP1 CL E G H | 55775 | 18884 | OMIM:607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | . | | | 52 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | . | | | 18 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 103 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | HP:0040282 - Frequent | | | 134 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618098 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | . | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TTPA CL E G H | 7274 | 12404 | ORPHA:96 | Ataxia with vitamin E deficiency | HP:0040282 - Frequent | | | 62 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | | | | 113 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | | | | 113 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 113 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 63 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0000763 | HP:0000763 | Sensory neuropathy | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | . | | | 60 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300614 | Deafness, X-linked 5 | . | | | 60 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040281 - Very frequent | | | 60 | | |
HP:0000763 | HP:0003409 | Distal sensory impairment of all modalities | 1 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | | | | 71 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | ATL3 CL E G H | 25923 | 24526 | OMIM:615632 | Neuropathy, hereditary sensory, type IF | . | | | 5 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040282 - Frequent | | | 100 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | HP:0040282 - Frequent | | | 56 | | |
HP:0000763 | HP:0003409 | Distal sensory impairment of all modalities | 1 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | | | | 56 | | |
HP:0000763 | HP:0003409 | Distal sensory impairment of all modalities | 1 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | HP:0040283 - Occasional | | | 159 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | HP:0040282 - Frequent | | | 57 | | |
HP:0000763 | HP:0003409 | Distal sensory impairment of all modalities | 1 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | | | | 21 | | |
HP:0000763 | HP:0003434 | Sensory ataxic neuropathy | 1 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040282 - Frequent | | | | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | HP:0040282 - Frequent | | | 47 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040282 - Frequent | | | 18 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | . | | | 121 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040282 - Frequent | | | 53 | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040284 - Very rare | | | 99 | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040284 - Very rare | | | 60 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0000763 | HP:0003409 | Distal sensory impairment of all modalities | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | . | | | 12 | | |
HP:0000763 | HP:0003409 | Distal sensory impairment of all modalities | 1 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 31 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 5 | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | HP:0040282 - Frequent | | | 16 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | . | | | 1 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040281 - Very frequent | | | 203 | | |
HP:0000763 | HP:0003409 | Distal sensory impairment of all modalities | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040281 - Very frequent | | | 8 | | |
HP:0000763 | HP:0003409 | Distal sensory impairment of all modalities | 1 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | . | | | 77 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | . | | | 2 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | PLEKHG4 CL E G H | 25894 | 24501 | ORPHA:98765 | Spinocerebellar ataxia type 4 | HP:0040283 - Occasional | | | 4 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0000763 | HP:0003434 | Sensory ataxic neuropathy | 1 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | . | | | 464 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0000763 | HP:0003434 | Sensory ataxic neuropathy | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0000763 | HP:0003434 | Sensory ataxic neuropathy | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0000763 | HP:0003434 | Sensory ataxic neuropathy | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | PRICKLE1 CL E G H | 144165 | 17019 | OMIM:612437 | Epilepsy, progressive myoclonic 1B | . | | | 133 | | |
HP:0000763 | HP:0003409 | Distal sensory impairment of all modalities | 1 | RNF170 CL E G H | 81790 | 25358 | OMIM:608984 | Ataxia, sensory, autosomal dominant | . | | | 3 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0000763 | HP:0003409 | Distal sensory impairment of all modalities | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0000763 | HP:0003409 | Distal sensory impairment of all modalities | 1 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040284 - Very rare | | | 1129 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 103 | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0007067 | Distal peripheral sensory neuropathy | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | . | | | 113 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | HP:0040283 - Occasional | | | 113 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0000763 | HP:0003434 | Sensory ataxic neuropathy | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0000763 | HP:0003434 | Sensory ataxic neuropathy | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040283 - Occasional | | | 63 | | |
HP:0000763 | HP:0003390 | Sensory axonal neuropathy | 1 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |