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:0002936 | HP:0002936 | Distal sensory impairment | 0 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | . | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | HP:0040283 - Occasional | | | 15 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040281 - Very frequent | | | 135 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | . | | | 50 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | . | | | 60 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300614 | Deafness, X-linked 5 | . | | | 60 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | . | | | 61 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 71 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | . | | | 71 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 5 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ATP7A CL E G H | 538 | 869 | OMIM:300489 | Spinal muscular atrophy, distal, X-linked 3 | HP:0040283 - Occasional | | | 192 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | HP:0040283 - Occasional | | | 105 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:615043 | Spastic paraplegia 43, autosomal recessive | . | | | 114 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | . | | | 11 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | . | | | 56 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | HP:0040283 - Occasional | | | 11 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | . | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | COX6A1 CL E G H | 1337 | 2277 | OMIM:616039 | Charcot-Marie-Tooth disease, recessive intermediate D | . | | | 4 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | | 60 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | | | | 2 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | DDHD1 CL E G H | 80821 | 19714 | OMIM:609340 | Spastic paraplegia 28, autosomal recessive | . | | | 35 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | DHH CL E G H | 50846 | 2865 | OMIM:607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | | | | 21 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | DNAJB2 CL E G H | 3300 | 5228 | OMIM:614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | . | | | 30 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:606482 | Charcot-Marie-Tooth disease, dominant intermediate B | . | | | 167 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | . | | | 427 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 58 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:619764 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H | | | | 63 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | | | | 63 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | . | | | 111 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040282 - Frequent | | | 121 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | . | | | 121 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | . | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GBE1 CL E G H | 2632 | 4180 | ORPHA:206583 | Adult polyglucosan body disease | HP:0040282 - Frequent | | | 86 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | . | | | 86 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | . | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99944 | Autosomal dominant Charcot-Marie-Tooth disease type 2K | HP:0040282 - Frequent | | | 108 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 108 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | . | | | 108 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:608340 | Charcot-Marie-Tooth disease, recessive intermediate A | . | | | 108 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | . | | | 108 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | HP:0040282 - Frequent | | | 37 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | GNB4 CL E G H | 59345 | 20731 | OMIM:615185 | Charcot-Marie-Tooth disease, dominant intermediate F | . | | | 12 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | HARS1 CL E G H | 3035 | 4816 | OMIM:616625 | Charcot-Marie-Tooth disease, axonal, type 2W | | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | . | | | 12 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040281 - Very frequent | | | 11 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | . | | | 47 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | HSPB8 CL E G H | 26353 | 30171 | OMIM:608673 | Charcot-Marie-Tooth disease, axonal, type 2L | . | | | 38 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:616451 | Spastic paraplegia 74, autosomal recessive | . | | | 16 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:616155 | Charcot-Marie-Tooth disease, axonal, type 2S | . | | | 209 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | . | | | 135 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 1 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | . | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:101010 | Autosomal spastic paraplegia type 30 | HP:0040282 - Frequent | | | 276 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | . | | | 202 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040282 - Frequent | | | 93 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | . | | | 93 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040281 - Very frequent | | | 3 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | LITAF CL E G H | 9516 | 16841 | OMIM:601098 | Charcot-Marie-Tooth disease, demyelinating, type 1C | . | | | 74 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | . | | | 645 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040282 - Frequent | | | 44 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | . | | | 102 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | . | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | HP:0040283 - Occasional | | | 80 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | HP:0040284 - Very rare | | | 80 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | HP:0040284 - Very rare | | | 3 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | . | | | 43 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040282 - Frequent | | | 203 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | . | | | 203 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | . | | | 203 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MME CL E G H | 4311 | 7154 | OMIM:617017 | Charcot-Marie-Tooth disease, axonal, type 2T | . | | | 18 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | HP:0040282 - Frequent | | | 18 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | . | | | 8 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | | | | 56 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607677 | Charcot-Marie-Tooth disease, axonal, type 2I | . | | | 134 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | . | | | 134 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607791 | Charcot-Marie-Tooth disease, dominant intermediate D | . | | | 134 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607736 | Charcot-Marie-Tooth disease, type 2J | . | | | 134 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 134 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 134 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | . | | | 88 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040282 - Frequent | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | . | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | . | | | | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | | | | 227 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:616491 | Charcot-Marie-Tooth disease, axonal, type 2V | . | | | 72 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | HP:0040283 - Occasional | | | 82 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | . | | | 82 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | . | | | 24 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | . | | | 118 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | . | | | 118 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:617882 | Charcot-Marie-Tooth disease, dominant intermediate G | . | | | 118 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040283 - Occasional | | | 97 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | HP:0040281 - Very frequent | | | 4 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | HP:0040283 - Occasional | | | 75 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | . | | | 11 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:615376 | Charcot-Marie-Tooth disease, recessive intermediate C | . | | | 186 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | . | | | 79 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040282 - Frequent | | | 79 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040281 - Very frequent | | | 79 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 79 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 79 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | . | | | 244 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | HP:0040282 - Frequent | | | 60 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 464 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 464 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:311070 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | | | | 49 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | . | | | 170 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 170 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040282 - Frequent | | | 87 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:610250 | Spastic paraplegia 31, autosomal dominant | . | | | 87 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | . | | | 309 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | . | | | 16 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | . | | | 180 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | . | | | 5 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SERPINI1 CL E G H | 5274 | 8943 | OMIM:604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | . | | | 28 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | | | | 36 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | . | | | 14 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:616668 | Charcot-Marie-Tooth disease, axonal, type 2X | . | | | 287 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 54 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | . | | | 54 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040281 - Very frequent | | | 149 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | . | | | 149 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:616040 | Myasthenic syndrome, congenital, 7, presynaptic | | | | 4 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | | | | 52 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | TDP1 CL E G H | 55775 | 18884 | OMIM:607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | . | | | 52 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | HP:0040282 - Frequent | | | 18 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | . | | | 18 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 103 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | HP:0040283 - Occasional | | | 214 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | | | | 113 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 138 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | VCP CL E G H | 7415 | 12666 | OMIM:616687 | Charcot-Marie-Tooth disease, axonal, type 2Y | . | | | 63 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | . | | | 4 | | |
HP:0002936 | HP:0002936 | Distal sensory impairment | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | . | | | | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:182410 | Sneddon syndrome | | | | 22 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 71 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 5 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | . | | | 57 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | . | | | 2 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | DHH CL E G H | 50846 | 2865 | OMIM:607080 | 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY | | | | 21 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | HP:0040283 - Occasional | | | | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | HP:0040282 - Frequent | | | 60 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 54 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 149 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | HP:0040282 - Frequent | | | 52 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0002936 | HP:0006937 | Impaired distal tactile sensation | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:70595 | Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0002936 | HP:0006858 | Impaired distal proprioception | 1 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | | | | 4 | | |