Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
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	OMIM:205400	Tangier disease		191
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	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: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: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	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: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: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: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: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	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: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:0040078	Axonal degeneration	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:0003447	Axonal loss	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:0040078	Axonal degeneration	1	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0000764	HP:0003477	Peripheral axonal neuropathy	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: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	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:0003477	Peripheral axonal neuropathy	1	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
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:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	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	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: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: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	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:0003390	Sensory axonal neuropathy	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
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: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: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: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: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: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: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:0003390	Sensory axonal neuropathy	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
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	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: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	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: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: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: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	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: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: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: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