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:0009129	HP:0009129	Upper limb amyotrophy	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0009129	HP:0009129	Upper limb amyotrophy	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0009129	HP:0009129	Upper limb amyotrophy	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0009129	HP:0009129	Upper limb amyotrophy	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional	304
HP:0009129	HP:0009129	Upper limb amyotrophy	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0009129	HP:0009129	Upper limb amyotrophy	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5		105
HP:0009129	HP:0009129	Upper limb amyotrophy	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0009129	HP:0009129	Upper limb amyotrophy	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0009129	HP:0009129	Upper limb amyotrophy	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0009129	HP:0009129	Upper limb amyotrophy	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0009129	HP:0009129	Upper limb amyotrophy	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0009129	HP:0009129	Upper limb amyotrophy	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy
HP:0009129	HP:0009129	Upper limb amyotrophy	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0009129	HP:0009129	Upper limb amyotrophy	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0009129	HP:0009129	Upper limb amyotrophy	0	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0009129	HP:0009129	Upper limb amyotrophy	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy
HP:0009129	HP:0009129	Upper limb amyotrophy	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040284 - Very rare	57
HP:0009129	HP:0009129	Upper limb amyotrophy	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0009129	HP:0009129	Upper limb amyotrophy	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0009129	HP:0009129	Upper limb amyotrophy	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0009129	HP:0009129	Upper limb amyotrophy	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0009129	HP:0009129	Upper limb amyotrophy	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0009129	HP:0009129	Upper limb amyotrophy	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0009129	HP:0009129	Upper limb amyotrophy	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0009129	HP:0009129	Upper limb amyotrophy	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0009129	HP:0009129	Upper limb amyotrophy	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0009129	HP:0009129	Upper limb amyotrophy	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0009129	HP:0009129	Upper limb amyotrophy	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0009129	HP:0009129	Upper limb amyotrophy	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	.
HP:0009129	HP:0009129	Upper limb amyotrophy	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0009129	HP:0009129	Upper limb amyotrophy	0	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K		108
HP:0009129	HP:0009129	Upper limb amyotrophy	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0009129	HP:0009129	Upper limb amyotrophy	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0009129	HP:0009129	Upper limb amyotrophy	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0009129	HP:0009129	Upper limb amyotrophy	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1		107
HP:0009129	HP:0009129	Upper limb amyotrophy	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0009129	HP:0009129	Upper limb amyotrophy	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0009129	HP:0009129	Upper limb amyotrophy	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040282 - Frequent	11
HP:0009129	HP:0009129	Upper limb amyotrophy	0	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	HP:0040281 - Very frequent	47
HP:0009129	HP:0009129	Upper limb amyotrophy	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0009129	HP:0009129	Upper limb amyotrophy	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0009129	HP:0009129	Upper limb amyotrophy	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E		135
HP:0009129	HP:0009129	Upper limb amyotrophy	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0009129	HP:0009129	Upper limb amyotrophy	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0009129	HP:0009129	Upper limb amyotrophy	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0009129	HP:0009129	Upper limb amyotrophy	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0009129	HP:0009129	Upper limb amyotrophy	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0009129	HP:0009129	Upper limb amyotrophy	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040283 - Occasional	93
HP:0009129	HP:0009129	Upper limb amyotrophy	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0009129	HP:0009129	Upper limb amyotrophy	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0009129	HP:0009129	Upper limb amyotrophy	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0009129	HP:0009129	Upper limb amyotrophy	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0009129	HP:0009129	Upper limb amyotrophy	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0009129	HP:0009129	Upper limb amyotrophy	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0009129	HP:0009129	Upper limb amyotrophy	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0009129	HP:0009129	Upper limb amyotrophy	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0009129	HP:0009129	Upper limb amyotrophy	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0009129	HP:0009129	Upper limb amyotrophy	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0009129	HP:0009129	Upper limb amyotrophy	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040283 - Occasional	82
HP:0009129	HP:0009129	Upper limb amyotrophy	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0009129	HP:0009129	Upper limb amyotrophy	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0009129	HP:0009129	Upper limb amyotrophy	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0009129	HP:0009129	Upper limb amyotrophy	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0009129	HP:0009129	Upper limb amyotrophy	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0009129	HP:0009129	Upper limb amyotrophy	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0009129	HP:0009129	Upper limb amyotrophy	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0009129	HP:0009129	Upper limb amyotrophy	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0009129	HP:0009129	Upper limb amyotrophy	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0009129	HP:0009129	Upper limb amyotrophy	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0009129	HP:0009129	Upper limb amyotrophy	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0009129	HP:0009129	Upper limb amyotrophy	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5		87
HP:0009129	HP:0009129	Upper limb amyotrophy	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0009129	HP:0009129	Upper limb amyotrophy	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0009129	HP:0009129	Upper limb amyotrophy	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0009129	HP:0009129	Upper limb amyotrophy	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0009129	HP:0009129	Upper limb amyotrophy	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0009129	HP:0009129	Upper limb amyotrophy	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0009129	HP:0009129	Upper limb amyotrophy	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0009129	HP:0009129	Upper limb amyotrophy	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0009129	HP:0009129	Upper limb amyotrophy	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type		62
HP:0009129	HP:0009129	Upper limb amyotrophy	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009129	HP:0009129	Upper limb amyotrophy	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0009129	HP:0009129	Upper limb amyotrophy	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type		5
HP:0009129	HP:0009129	Upper limb amyotrophy	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0009129	HP:0009129	Upper limb amyotrophy	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0009129	HP:0009129	Upper limb amyotrophy	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0009129	HP:0009129	Upper limb amyotrophy	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0009129	HP:0009129	Upper limb amyotrophy	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5		105
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy	HP:0040281 - Very frequent
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy	HP:0040281 - Very frequent
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent	600
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.	197
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K		108
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040281 - Very frequent	107
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040283 - Occasional	80
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5		87
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	62
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	5
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0009129	HP:0007149	Distal upper limb amyotrophy	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0009129	HP:0009130	Hand muscle atrophy	2	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.	96
HP:0009129	HP:0009130	Hand muscle atrophy	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0009129	HP:0009130	Hand muscle atrophy	2	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040282 - Frequent	105
HP:0009129	HP:0009130	Hand muscle atrophy	2	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5		105
HP:0009129	HP:0009130	Hand muscle atrophy	2	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0009129	HP:0009130	Hand muscle atrophy	2	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0009129	HP:0009130	Hand muscle atrophy	2	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type		148
HP:0009129	HP:0009130	Hand muscle atrophy	2	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0009129	HP:0009130	Hand muscle atrophy	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0009129	HP:0009130	Hand muscle atrophy	2	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0009129	HP:0009130	Hand muscle atrophy	2	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0009129	HP:0009130	Hand muscle atrophy	2	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.	86
HP:0009129	HP:0009130	Hand muscle atrophy	2	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0009129	HP:0009130	Hand muscle atrophy	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0009129	HP:0009130	Hand muscle atrophy	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0009129	HP:0009130	Hand muscle atrophy	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040281 - Very frequent	18
HP:0009129	HP:0009130	Hand muscle atrophy	2	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0009129	HP:0009130	Hand muscle atrophy	2	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0009129	HP:0009130	Hand muscle atrophy	2	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0009129	HP:0009130	Hand muscle atrophy	2	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0009129	HP:0009130	Hand muscle atrophy	2	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	HP:0040282 - Frequent	108
HP:0009129	HP:0009130	Hand muscle atrophy	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0009129	HP:0009130	Hand muscle atrophy	2	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0009129	HP:0009130	Hand muscle atrophy	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0009129	HP:0009130	Hand muscle atrophy	2	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0009129	HP:0009130	Hand muscle atrophy	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0009129	HP:0009130	Hand muscle atrophy	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0009129	HP:0009130	Hand muscle atrophy	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0009129	HP:0009130	Hand muscle atrophy	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0009129	HP:0009130	Hand muscle atrophy	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0009129	HP:0009130	Hand muscle atrophy	2	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0009129	HP:0009130	Hand muscle atrophy	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0009129	HP:0009130	Hand muscle atrophy	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0009129	HP:0009130	Hand muscle atrophy	2	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0009129	HP:0009130	Hand muscle atrophy	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0009129	HP:0009130	Hand muscle atrophy	2	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0009129	HP:0009130	Hand muscle atrophy	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0009129	HP:0009130	Hand muscle atrophy	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0009129	HP:0009130	Hand muscle atrophy	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0009129	HP:0009130	Hand muscle atrophy	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0009129	HP:0009130	Hand muscle atrophy	2	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0009129	HP:0009130	Hand muscle atrophy	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0009129	HP:0009130	Hand muscle atrophy	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent	79
HP:0009129	HP:0009130	Hand muscle atrophy	2	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0009129	HP:0009130	Hand muscle atrophy	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0009129	HP:0009130	Hand muscle atrophy	2	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5		87
HP:0009129	HP:0009130	Hand muscle atrophy	2	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0009129	HP:0009130	Hand muscle atrophy	2	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0009129	HP:0009130	Hand muscle atrophy	2	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0009129	HP:0009130	Hand muscle atrophy	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3		24
HP:0009129	HP:0009130	Hand muscle atrophy	2	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome		24
HP:0009129	HP:0009130	Hand muscle atrophy	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0009129	HP:0009130	Hand muscle atrophy	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0009129	HP:0009130	Hand muscle atrophy	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0009129	HP:0009130	Hand muscle atrophy	2	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type		62
HP:0009129	HP:0009130	Hand muscle atrophy	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009129	HP:0009130	Hand muscle atrophy	2	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0009129	HP:0009130	Hand muscle atrophy	2	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type		5
HP:0009129	HP:0009130	Hand muscle atrophy	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0009129	HP:0009130	Hand muscle atrophy	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0009129	HP:0009130	Hand muscle atrophy	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0009129	HP:0009130	Hand muscle atrophy	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent	63
HP:0009129	HP:0003393	Thenar muscle atrophy	3	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	105
HP:0009129	HP:0003393	Thenar muscle atrophy	3	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0009129	HP:0003393	Thenar muscle atrophy	3	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0009129	HP:0003393	Thenar muscle atrophy	3	COMP CL E G H	1311	2227	OMIM:619161	CARPAL TUNNEL SYNDROME 2; CTS2		89
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040283 - Occasional	600
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040281 - Very frequent	197
HP:0009129	HP:0003393	Thenar muscle atrophy	3	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0009129	HP:0003393	Thenar muscle atrophy	3	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent
HP:0009129	HP:0003393	Thenar muscle atrophy	3	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	.
HP:0009129	HP:0003393	Thenar muscle atrophy	3	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0009129	HP:0003393	Thenar muscle atrophy	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040282 - Frequent	286
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	134
HP:0009129	HP:0003393	Thenar muscle atrophy	3	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0009129	HP:0003393	Thenar muscle atrophy	3	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040282 - Frequent	4
HP:0009129	HP:0003393	Thenar muscle atrophy	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional	79
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0009129	HP:0003393	Thenar muscle atrophy	3	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent	87
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent	1200
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0009129	HP:0003393	Thenar muscle atrophy	3	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0009129	HP:0003393	Thenar muscle atrophy	3	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0009129	HP:0003393	Thenar muscle atrophy	3	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0009129	HP:0003393	Thenar muscle atrophy	3	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	62
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent	5
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0009129	HP:0008954	Intrinsic hand muscle atrophy	3	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63