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:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | | | | 191 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | | | | 191 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 245 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040281 - Very frequent | | | 135 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | | | | 135 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | | | | 86 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | | | | 60 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300614 | Deafness, X-linked 5 | | | | 60 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | | | | 60 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | | | | 89 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | | | | 21 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | . | | | 61 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | | | | 5 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | | | | 5 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 71 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | | | | 71 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 5 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATL3 CL E G H | 25923 | 24526 | OMIM:615632 | Neuropathy, hereditary sensory, type IF | | | | 5 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | | | | 100 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | | | | 150 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | | | | 14 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | | | | 204 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | | | | 114 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | | | | 56 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | COASY CL E G H | 80347 | 29932 | ORPHA:397725 | COASY protein-associated neurodegeneration | | | | 16 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | | | | 16 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | | | | 39 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | | | | 17 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | | | | 159 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | CYP2U1 CL E G H | 113612 | 20582 | ORPHA:320411 | Autosomal recessive spastic paraplegia type 56 | | | | 18 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | | | | 18 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | | 60 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | DARS2 CL E G H | 55157 | 25538 | OMIM:611105 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation | | | | 60 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | | | | 2 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | DDHD1 CL E G H | 80821 | 19714 | OMIM:609340 | Spastic paraplegia 28, autosomal recessive | | | | 35 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | | | | 57 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | | | | 57 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:606482 | Charcot-Marie-Tooth disease, dominant intermediate B | . | | | 167 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614563 | Mental retardation, autosomal dominant 13 | | | | 427 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | | | | 62 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ELOVL5 CL E G H | 60481 | 21308 | OMIM:615957 | Spinocerebellar ataxia 38 | | | | 4 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:619465 | VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2 | | | | 77 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | | | | 63 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | | | | 47 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | | | | 111 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | | | | 121 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | | | | 30 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | | | | 30 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | | | | 86 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 237 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 108 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | . | | | 108 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | . | | | 107 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | | | | 107 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | GNB4 CL E G H | 59345 | 20731 | OMIM:615185 | Charcot-Marie-Tooth disease, dominant intermediate F | | | | 12 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | | | | 12 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | | | | 11 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 31 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 5 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HSPB1 CL E G H | 3315 | 5246 | ORPHA:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | | | | 47 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | | | | 47 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | HSPB8 CL E G H | 26353 | 30171 | OMIM:608673 | Charcot-Marie-Tooth disease, axonal, type 2L | | | | 38 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | | | | 16 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:616451 | Spastic paraplegia 74, autosomal recessive | | | | 16 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | IFRD1 CL E G H | 3475 | 5456 | ORPHA:98771 | Spinocerebellar ataxia type 18 | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:616155 | Charcot-Marie-Tooth disease, axonal, type 2S | | | | 209 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | | | | 135 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 62 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619196 | DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | | | | 121 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 127 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | | | | 4 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | | | | 276 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | | | | 276 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | | | | 202 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | | | | 93 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | | | | 3 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:615278 | Cardiofaciocutaneous syndrome 2 | | | | 196 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | | | | 645 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | . | | | 102 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | | | | 3 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | | | | 203 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | | | | 14 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | | | | 18 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | | | | 96 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | | | | 26 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:619090 | DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN | | | | 8 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:101082 | Charcot-Marie-Tooth disease type 1B | | | | 134 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607677 | Charcot-Marie-Tooth disease, axonal, type 2I | | | | 134 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607791 | Charcot-Marie-Tooth disease, dominant intermediate D | | | | 134 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607736 | Charcot-Marie-Tooth disease, type 2J | | | | 134 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | | | | 47 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | | | | 82 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | | 118 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | | | | 118 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | NEMF CL E G H | 9147 | 10663 | OMIM:619099 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | | | | 214 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 30 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | | | | 75 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | | | | 11 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | | | | 2 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PLEKHG4 CL E G H | 25894 | 24501 | ORPHA:98765 | Spinocerebellar ataxia type 4 | | | | 4 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | | | | 105 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:139480 | Autosomal recessive spastic paraplegia type 39 | | | | 103 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 464 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 464 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 464 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | | | | 464 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 45 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PRICKLE1 CL E G H | 144165 | 17019 | OMIM:612437 | Epilepsy, progressive myoclonic 1B | | | | 133 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611722 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | | | | 81 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | | | | 54 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | RNF220 CL E G H | 55182 | 25552 | OMIM:619688 | LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23 | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 125 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 125 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SEPTIN9 CL E G H | 10801 | 7323 | OMIM:162100 | Amyotrophy, hereditary neuralgic | . | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SERPING1 CL E G H | 710 | 1228 | OMIM:106100 | Angioedema, hereditary, 1 | | | | 64 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | . | | | 162 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:613353 | Mononeuropathy of the median nerve, mild | | | | 493 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | | | | 163 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | | | | 36 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 68 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | | | | 287 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:616668 | Charcot-Marie-Tooth disease, axonal, type 2X | | | | 287 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:35689 | Primary lateral sclerosis | | | | 171 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 54 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 149 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 110 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | | | | 73 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:610743 | Spinocerebellar ataxia, autosomal recessive 8 | | | | 1129 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | | | | 52 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TDP1 CL E G H | 55775 | 18884 | OMIM:607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | | | | 52 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | | | | 18 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 103 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRIM2 CL E G H | 23321 | 15974 | OMIM:615490 | Charcot-Marie-Tooth disease, axonal, type 2R | | | | 3 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | | | | 88 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | | | | 107 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | | | | 64 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 113 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | | | | 113 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | | | | 113 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 138 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | | | 22 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | UBQLN2 CL E G H | 29978 | 12509 | OMIM:300857 | Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia | | | | 20 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 63 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | WARS1 CL E G H | 7453 | 12729 | OMIM:617721 | Neuronopathy, distal hereditary motor, type IX | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | WDR48 CL E G H | 57599 | 30914 | ORPHA:401800 | Autosomal recessive spastic paraplegia type 60 | | | | 1 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | | | | 389 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | | | | 189 | | |
HP:0000764 | HP:0000764 | Peripheral axonal degeneration | 0 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | | | | 189 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | . | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | . | | | 191 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ABCA1 CL E G H | 19 | 29 | ORPHA:31150 | Tangier disease | HP:0040282 - Frequent | | | 191 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 245 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040281 - Very frequent | | | 135 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040282 - Frequent | | | 135 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | . | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | | | | 60 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300614 | Deafness, X-linked 5 | | | | 60 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | | | | 60 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | . | | | 21 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | . | | | 61 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | . | | | 5 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 71 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATL1 CL E G H | 51062 | 11231 | OMIM:613708 | Neuropathy, hereditary sensory, type ID | . | | | 71 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 5 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATL3 CL E G H | 25923 | 24526 | OMIM:615632 | Neuropathy, hereditary sensory, type IF | | | | 5 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040281 - Very frequent | | | 100 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | | | | 150 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | HP:0040282 - Frequent | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040283 - Occasional | | | 14 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | HP:0040283 - Occasional | | | 276 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | | | | 114 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | | | | 56 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | . | | | 56 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | . | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | COASY CL E G H | 80347 | 29932 | ORPHA:397725 | COASY protein-associated neurodegeneration | HP:0040281 - Very frequent | | | 16 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | | | | 16 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | | | | 39 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | | | | 17 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | | | | 159 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | CYP2U1 CL E G H | 113612 | 20582 | ORPHA:320411 | Autosomal recessive spastic paraplegia type 56 | HP:0040283 - Occasional | | | 18 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | | | | 18 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 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:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | DARS2 CL E G H | 55157 | 25538 | OMIM:611105 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation | . | | | 60 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | . | | | 2 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | DDHD1 CL E G H | 80821 | 19714 | OMIM:609340 | Spastic paraplegia 28, autosomal recessive | HP:0040283 - Occasional | | | 35 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | | | | 57 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | . | | | 57 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 167 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:606482 | Charcot-Marie-Tooth disease, dominant intermediate B | . | | | 167 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614563 | Mental retardation, autosomal dominant 13 | HP:0040283 - Occasional | | | 427 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | HP:0040284 - Very rare | | | 62 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ELOVL5 CL E G H | 60481 | 21308 | OMIM:615957 | Spinocerebellar ataxia 38 | HP:0040283 - Occasional | | | 4 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ERBB2 CL E G H | 2064 | 3430 | OMIM:619465 | VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2 | | | | 77 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040282 - Frequent | | | 199 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040282 - Frequent | | | 55 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | | | | 63 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | | | | 47 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | | | | 121 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | HP:0040282 - Frequent | | | 30 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040283 - Occasional | | | 30 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | GBE1 CL E G H | 2632 | 4180 | OMIM:263570 | Polyglucosan body neuropathy, adult form | . | | | 86 | | |
HP:0000764 | HP:0003378 | Axonal degeneration/regeneration | 1 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | . | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 237 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0000764 | HP:0003450 | Axonal regeneration | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0000764 | HP:0003450 | Axonal regeneration | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 108 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | . | | | 108 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | . | | | 107 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | HP:0040282 - Frequent | | | 107 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000764 | HP:0003450 | Axonal regeneration | 1 | GNB4 CL E G H | 59345 | 20731 | OMIM:615185 | Charcot-Marie-Tooth disease, dominant intermediate F | . | | | 12 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | | | | 12 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040281 - Very frequent | | | 11 | | |
HP:0000764 | HP:0003450 | Axonal regeneration | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | . | | | 11 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 31 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 5 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | HSPB1 CL E G H | 3315 | 5246 | ORPHA:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | HP:0040281 - Very frequent | | | 47 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | | | | 47 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | HSPB8 CL E G H | 26353 | 30171 | OMIM:608673 | Charcot-Marie-Tooth disease, axonal, type 2L | . | | | 38 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | HP:0040281 - Very frequent | | | 16 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | IBA57 CL E G H | 200205 | 27302 | OMIM:616451 | Spastic paraplegia 74, autosomal recessive | . | | | 16 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | IFRD1 CL E G H | 3475 | 5456 | ORPHA:98771 | Spinocerebellar ataxia type 18 | HP:0040283 - Occasional | | | 1 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:616155 | Charcot-Marie-Tooth disease, axonal, type 2S | . | | | 209 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | . | | | 135 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 62 | | |
HP:0000764 | HP:0003450 | Axonal regeneration | 1 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 1 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KARS1 CL E G H | 3735 | 6215 | OMIM:619196 | DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040283 - Occasional | | | 121 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 127 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | | | | 4 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | HP:0040283 - Occasional | | | 276 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | HP:0040282 - Frequent | | | 276 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | | | | 202 | | |
HP:0000764 | HP:0003384 | Peripheral axonal atrophy | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | . | | | 202 | | |
HP:0000764 | HP:0003378 | Axonal degeneration/regeneration | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | . | | | 202 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040282 - Frequent | | | 93 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | | | | 1 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:615278 | Cardiofaciocutaneous syndrome 2 | | | | 196 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0000764 | HP:0003378 | Axonal degeneration/regeneration | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | . | | | 645 | | |
HP:0000764 | HP:0003384 | Peripheral axonal atrophy | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | . | | | 645 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | . | | | 102 | | |
HP:0000764 | HP:0003378 | Axonal degeneration/regeneration | 1 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | . | | | 102 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | . | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | . | | | 3 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | . | | | 203 | | |
HP:0000764 | HP:0003378 | Axonal degeneration/regeneration | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | . | | | 203 | | |
HP:0000764 | HP:0003384 | Peripheral axonal atrophy | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | . | | | 203 | | |
HP:0000764 | HP:0003378 | Axonal degeneration/regeneration | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | HP:0040283 - Occasional | | | 14 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040283 - Occasional | | | 14 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | HP:0040281 - Very frequent | | | 18 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:619090 | DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN | | | | 8 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:101082 | Charcot-Marie-Tooth disease type 1B | HP:0040282 - Frequent | | | 134 | | |
HP:0000764 | HP:0003378 | Axonal degeneration/regeneration | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:607677 | Charcot-Marie-Tooth disease, axonal, type 2I | . | | | 134 | | |
HP:0000764 | HP:0003378 | Axonal degeneration/regeneration | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:607791 | Charcot-Marie-Tooth disease, dominant intermediate D | . | | | 134 | | |
HP:0000764 | HP:0003378 | Axonal degeneration/regeneration | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:607736 | Charcot-Marie-Tooth disease, type 2J | | | | 134 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040282 - Frequent | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | . | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 19 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | . | | | 82 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0000764 | HP:0003477 | Peripheral axonal 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:0000764 | HP:0003450 | Axonal regeneration | 1 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | | | | 118 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | NEMF CL E G H | 9147 | 10663 | OMIM:619099 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN | | | | 1 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | | | | 214 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 30 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | | | | 75 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | | | | 11 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040282 - Frequent | | | 133 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | | | | 2 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PLEKHG4 CL E G H | 25894 | 24501 | ORPHA:98765 | Spinocerebellar ataxia type 4 | | | | 4 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040284 - Very rare | | | 105 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:139480 | Autosomal recessive spastic paraplegia type 39 | | | | 103 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | . | | | 103 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 464 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | | | | 464 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PRICKLE1 CL E G H | 144165 | 17019 | OMIM:612437 | Epilepsy, progressive myoclonic 1B | | | | 133 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:611722 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | | | | 81 | | |
HP:0000764 | HP:0003378 | Axonal degeneration/regeneration | 1 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | . | | | 50 | | |
HP:0000764 | HP:0003384 | Peripheral axonal atrophy | 1 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | . | | | 50 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | RETREG1 CL E G H | 54463 | 25964 | OMIM:613115 | Neuropathy, hereditary sensory and autonomic, type IIB | . | | | 54 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | . | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | RNF220 CL E G H | 55182 | 25552 | OMIM:619688 | LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23 | | | | 1 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | SEPTIN9 CL E G H | 10801 | 7323 | OMIM:162100 | Amyotrophy, hereditary neuralgic | . | | | | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | SERPING1 CL E G H | 710 | 1228 | OMIM:106100 | Angioedema, hereditary, 1 | . | | | 64 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SERPING1 CL E G H | 710 | 1228 | OMIM:106100 | Angioedema, hereditary, 1 | . | | | 64 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | . | | | 162 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:613353 | Mononeuropathy of the median nerve, mild | . | | | 493 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0000764 | HP:0003378 | Axonal degeneration/regeneration | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | . | | | 36 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040281 - Very frequent | | | 287 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:616668 | Charcot-Marie-Tooth disease, axonal, type 2X | . | | | 287 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SPG7 CL E G H | 6687 | 11237 | ORPHA:35689 | Primary lateral sclerosis | | | | 171 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SPTBN4 CL E G H | 57731 | 14896 | OMIM:617519 | Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | | | | 3 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 54 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 149 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040283 - Occasional | | | 110 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | | | | 73 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | SYNE1 CL E G H | 23345 | 17089 | OMIM:610743 | Spinocerebellar ataxia, autosomal recessive 8 | HP:0040284 - Very rare | | | 1129 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TDP1 CL E G H | 55775 | 18884 | OMIM:607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | . | | | 52 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | . | | | 18 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 103 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | TRIM2 CL E G H | 23321 | 15974 | OMIM:615490 | Charcot-Marie-Tooth disease, axonal, type 2R | . | | | 3 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRIM2 CL E G H | 23321 | 15974 | OMIM:615490 | Charcot-Marie-Tooth disease, axonal, type 2R | . | | | 3 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | . | | | 4 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | HP:0040283 - Occasional | | | 214 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | . | | | 88 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TTR CL E G H | 7276 | 12405 | OMIM:105210 | Amyloidosis, hereditary, transthyretin-related | . | | | 107 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | HP:0040283 - Occasional | | | 64 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | | | | 113 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | | | | 113 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | HP:0040281 - Very frequent | | | 1 | | |
HP:0000764 | HP:0040078 | Axonal degeneration | 1 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | | | | 1 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | UBQLN2 CL E G H | 29978 | 12509 | OMIM:300857 | Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia | . | | | 20 | | |
HP:0000764 | HP:0003447 | Axonal loss | 1 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 63 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | . | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | WARS1 CL E G H | 7453 | 12729 | OMIM:617721 | Neuronopathy, distal hereditary motor, type IX | | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | WDR48 CL E G H | 57599 | 30914 | ORPHA:401800 | Autosomal recessive spastic paraplegia type 60 | | | | 1 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | HP:0040282 - Frequent | | | 389 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0000764 | HP:0003450 | Axonal regeneration | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | . | | | | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | HP:0040282 - Frequent | | | 189 | | |
HP:0000764 | HP:0003477 | Peripheral axonal neuropathy | 1 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | | | | 189 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | . | | | 60 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | . | | | 60 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300614 | Deafness, X-linked 5 | . | | | 60 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040281 - Very frequent | | | 60 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 71 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 5 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | ATL3 CL E G H | 25923 | 24526 | OMIM:615632 | Neuropathy, hereditary sensory, type IF | . | | | 5 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040282 - Frequent | | | 100 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040282 - Frequent | | | 114 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | HP:0040282 - Frequent | | | 56 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | COASY CL E G H | 80347 | 29932 | OMIM:615643 | Neurodegeneration with brain iron accumulation 6 | . | | | 16 | | |
HP:0000764 | HP:0007267 | Chronic axonal neuropathy | 2 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | HP:0040282 - Frequent | | | 39 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | HP:0040283 - Occasional | | | 159 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | 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:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | HP:0040282 - Frequent | | | 47 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040282 - Frequent | | | 18 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | . | | | 121 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | . | | | 121 | | |
HP:0000764 | HP:0007267 | Chronic axonal neuropathy | 2 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0000764 | HP:0007233 | Clusters of axonal regeneration | 2 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0000764 | HP:0007267 | Chronic axonal neuropathy | 2 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | HP:0040282 - Frequent | | | | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040282 - Frequent | | | 12 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | . | | | 12 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | 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:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | 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:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | 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:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | 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:0000764 | HP:0007267 | Chronic axonal neuropathy | 2 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | . | | | 47 | | |
HP:0000764 | HP:0007267 | Chronic axonal neuropathy | 2 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | HP:0040283 - Occasional | | | 121 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040283 - Occasional | | | 4 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | . | | | 1 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | . | | | 1 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040281 - Very frequent | | | 203 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040281 - Very frequent | | | 8 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040282 - Frequent | | | 8 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0000764 | HP:0007233 | Clusters of axonal regeneration | 2 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | . | | | 118 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040283 - Occasional | | | 214 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | HP:0040281 - Very frequent | | | 75 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | . | | | 77 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | . | | | 2 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | PLEKHG4 CL E G H | 25894 | 24501 | ORPHA:98765 | Spinocerebellar ataxia type 4 | HP:0040283 - Occasional | | | 4 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | PLEKHG4 CL E G H | 25894 | 24501 | ORPHA:98765 | Spinocerebellar ataxia type 4 | HP:0040283 - Occasional | | | 4 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:139480 | Autosomal recessive spastic paraplegia type 39 | HP:0040282 - Frequent | | | 103 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | POLG CL E G H | 5428 | 9179 | ORPHA:94125 | Recessive mitochondrial ataxia syndrome | HP:0040282 - Frequent | | | 464 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | PRICKLE1 CL E G H | 144165 | 17019 | OMIM:612437 | Epilepsy, progressive myoclonic 1B | . | | | 133 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0000764 | HP:0007267 | Chronic axonal neuropathy | 2 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | SPG7 CL E G H | 6687 | 11237 | ORPHA:35689 | Primary lateral sclerosis | HP:0040283 - Occasional | | | 171 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 54 | | |
HP:0000764 | HP:0007267 | Chronic axonal neuropathy | 2 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | . | | | 54 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040283 - Occasional | | | 149 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040284 - Very rare | | | 1129 | | |
HP:0000764 | HP:0007267 | Chronic axonal neuropathy | 2 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040283 - Occasional | | | 1129 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 103 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | . | | | 113 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | HP:0040283 - Occasional | | | 113 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | 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:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | 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:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | WARS1 CL E G H | 7453 | 12729 | OMIM:617721 | Neuronopathy, distal hereditary motor, type IX | . | | | | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | WDR48 CL E G H | 57599 | 30914 | ORPHA:401800 | Autosomal recessive spastic paraplegia type 60 | HP:0040282 - Frequent | | | 1 | | |
HP:0000764 | HP:0007002 | Motor axonal neuropathy | 2 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | . | | | 8 | | |
HP:0000764 | HP:0003390 | Sensory axonal neuropathy | 2 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |