GDAP1 - ganglioside induced differentiation associated protein 1 Gene

Also Known as CMT4; CMT4A; CMTRIA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54332

About GDAP1

Cytogenetic location: 8q21.11 Genomic coordinates (GRCh38): 8:74,350,403-74,488,872 (from NCBI)

This gene has 50 transcripts (splice variants), 245 orthologues, 14 paralogues and is associated with 9 phenotypes. Broad expression in brain (RPKM 21.7), adrenal (RPKM 4.4) and 14 other tissues.

Summary

This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]

GDAP1 Products (6)

mRNA	Protein	Name
NM_001040875.4	NP_001035808.1	ganglioside-induced differentiation-associated protein 1 isoform b
NM_001362929.2	NP_001349858.1	ganglioside-induced differentiation-associated protein 1 isoform c
NM_001362930.2	NP_001349859.1	ganglioside-induced differentiation-associated protein 1 isoform d
NM_001362931.2	NP_001349860.1	ganglioside-induced differentiation-associated protein 1 isoform e
NM_001362932.2	NP_001349861.1	ganglioside-induced differentiation-associated protein 1 isoform c
NM_018972.4	NP_061845.2	ganglioside-induced differentiation-associated protein 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial fission	IDA IDA: Inferred from direct assay	15772096	GOA
involved in mitochondrial fusion	IMP IMP: Inferred from mutant phenotype	21753178	GOA
involved in protein targeting to mitochondrion	IMP IMP: Inferred from mutant phenotype	15772096	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	15772096	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GDAP1 Protein Structure

GST_N_3

GST_C_2

0
100
200
300
358 a.a.

Protein Preferred Names	Protein Names
ganglioside-induced differentiation-associated protein 1	Charcot-Marie-Tooth neuropathy 4A

GDAP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GDAP1	Q8TB36	IQUB	Homo sapiens	Q8NA54	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	IQUB	Homo sapiens	Q8NA54	Y2H Array	32814053
Intra	GDAP1	Q8TB36	IQUB	Homo sapiens	Q8NA54	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	FOXR1	Homo sapiens	Q6PIV2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	FOXR1	Homo sapiens	Q6PIV2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	FOXR1	Homo sapiens	Q6PIV2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	KRTAP8-1	Homo sapiens	Q8IUC2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	KRTAP8-1	Homo sapiens	Q8IUC2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	KRTAP8-1	Homo sapiens	Q8IUC2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	AAMDC	Homo sapiens	Q9H7C9	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	AAMDC	Homo sapiens	Q9H7C9	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	AAMDC	Homo sapiens	Q9H7C9	Y2H Array	32814053
Intra	GDAP1	Q8TB36	SNX2	Homo sapiens	O60749	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SNX2	Homo sapiens	O60749	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SNX2	Homo sapiens	O60749	Y2H Array	32814053
Intra	GDAP1	Q8TB36	CLPP	Homo sapiens	Q16740	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	CLPP	Homo sapiens	Q16740	Y2H Array	32814053
Intra	GDAP1	Q8TB36	CLPP	Homo sapiens	Q16740	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	TAGLN2	Homo sapiens	P37802	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	TAGLN2	Homo sapiens	P37802	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	TAGLN2	Homo sapiens	P37802	Y2H Array	32814053
Intra	GDAP1	Q8TB36	SPATA12	Homo sapiens	Q7Z6I5	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SPATA12	Homo sapiens	Q7Z6I5	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SPATA12	Homo sapiens	Q7Z6I5	Y2H Array	32814053
Intra	GDAP1	Q8TB36	DCBLD2	Homo sapiens	Q96PD2-2	Validated Y2H	32296183
Intra	GDAP1	Q8TB36	STARD4	Homo sapiens	Q96DR4	Validated Y2H	32296183
Intra	GDAP1	Q8TB36	DAZ3	Homo sapiens	Q9NR90-2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	DAZ3	Homo sapiens	Q9NR90-2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	DAZ3	Homo sapiens	Q9NR90-2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SCAPER	Homo sapiens	Q9BY12-3	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SCAPER	Homo sapiens	Q9BY12-3	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SCAPER	Homo sapiens	Q9BY12-3	Y2H Array	32814053
Intra	GDAP1	Q8TB36	MSH5	Homo sapiens	O43196-2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	MSH5	Homo sapiens	O43196-2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	MSH5	Homo sapiens	O43196-2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	ZNF638	Homo sapiens	Q14966-2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	ZNF638	Homo sapiens	Q14966-2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	ZNF638	Homo sapiens	Q14966-2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SPACA3	Homo sapiens	Q05C28	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SPACA3	Homo sapiens	Q05C28	Y2H Array	32814053
Intra	GDAP1	Q8TB36	SPACA3	Homo sapiens	Q05C28	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SKIC8	Homo sapiens	Q9GZS3	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	SKIC8	Homo sapiens	Q9GZS3	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SKIC8	Homo sapiens	Q9GZS3	Y2H Array	32814053
Intra	GDAP1	Q8TB36	SMN1	Homo sapiens	Q16637-3	Y2H Array	32814053
Intra	GDAP1	Q8TB36	SMN1	Homo sapiens	Q16637-3	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	SMN1	Homo sapiens	Q16637-3	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	MGARP	Homo sapiens	Q8TDB4	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	MGARP	Homo sapiens	Q8TDB4	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	MGARP	Homo sapiens	Q8TDB4	Y2H Array	32814053
Intra	GDAP1	Q8TB36	MAP3K5	Homo sapiens	Q99683	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	MAP3K5	Homo sapiens	Q99683	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	MAP3K5	Homo sapiens	Q99683	Y2H Array	32814053
Intra	GDAP1	Q8TB36	BIRC5	Homo sapiens	O15392	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	BIRC5	Homo sapiens	O15392	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	BIRC5	Homo sapiens	O15392	Y2H Array	32814053
Intra	GDAP1	Q8TB36	EVL	Homo sapiens	Q9UI08-2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	EVL	Homo sapiens	Q9UI08-2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	EVL	Homo sapiens	Q9UI08-2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	BOK	Homo sapiens	Q9UMX3	Y2H Array	32814053
Intra	GDAP1	Q8TB36	BOK	Homo sapiens	Q9UMX3	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	BOK	Homo sapiens	Q9UMX3	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	CEP55	Homo sapiens	Q53EZ4	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	CEP55	Homo sapiens	Q53EZ4	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	CEP55	Homo sapiens	Q53EZ4	Y2H Array	32814053
Intra	GDAP1	Q8TB36	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
Intra	GDAP1	Q8TB36	OPTN	Homo sapiens	Q96CV9-2	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	OPTN	Homo sapiens	Q96CV9-2	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	OPTN	Homo sapiens	Q96CV9-2	Y2H Array	32814053
Intra	GDAP1	Q8TB36	BAIAP2	Homo sapiens	Q9UQB8-6	Y2H Pooling	32814053
Intra	GDAP1	Q8TB36	BAIAP2	Homo sapiens	Q9UQB8-6	Validated Y2H	32814053
Intra	GDAP1	Q8TB36	BAIAP2	Homo sapiens	Q9UQB8-6	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease, Type 4a	Charcot-Marie-Tooth Disease Type 4a CMT4A Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a Charcot-Marie-Tooth Neuropathy, Type 4a Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a Charcot-Marie-Tooth Neuropathy Type 4a Charcot-Marie-Tooth Disease 4a Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a Charcot-Marie-Tooth Disease Neuropathy Type 4a
Charcot-Marie-Tooth Disease, Axonal, Type 2k	Charcot-Marie-Tooth Disease Axonal Type 2k CMT2K Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness Arcmt2k Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2k Autosomal Recessive Axonal Cmt4c4 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2k Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2k Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Disease Type 2k Charcot-Marie-Tooth Neuropathy Axonal Type 2k Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease 2k Charcot-Marie-Tooth Disease Neuronal Type 2k Charcot-Marie-Tooth Neuropathy Type 2k Charcot-Marie-Tooth Disease, Type 2k
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Charcot-Marie-Tooth Disease Recessive Intermediate A CMTRIA Ri-Cmta Charcot-Marie-Tooth Disease, Recessive Intermediate, A Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type A Charcot-Marie-Tooth Neuropathy Recessive Intermediate A Charcot-Marie-Tooth Neuropathy, Recessive Intermediate A Ri-Cmt Type A Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, A
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis Cmt2 With Vocal Cord Paresis, Autosomal Recessive Charcot-Marie-Tooth Disease, Type 4a, Axonal Form Charcot-Marie-Tooth Neuropathy, Axonal, With Vocal Cord Paresis, Autosomal Recessive CMT2RV Charcot-Marie-Tooth Axonal Type 4a Charcot-Marie-Tooth Neuropathy Axonal With Vocal Cord Paresis Autosomal Recessive Cmt2 With Vocal Cord Paresis Autosomal Recessive
Sensory Peripheral Neuropathy	Sensory Neuropathy Peripheral Sensory Neuropathy Hereditary Sensory And Autonomic Neuropathies
Polyneuropathy	Polyneuropathies
Axonal Neuropathy
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Creatine Phosphokinase, Elevated Serum	Hyperckemia, Idiopathic Cpk, Elevated Serum Hyperckmia HYPCK
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Charcot-Marie-Tooth Disease, Axonal, Type 2h	CMT2H Charcot-Marie-Tooth Disease Axonal Type 2h Ar-Cmt2c Autosomal Recessive Axonal Cmt4c2 Axonal Charcot-Marie-Tooth Disease With Pyramidal Involvement Charcot-Marie-Tooth Disease Type 2h Charcot-Marie-Tooth Disease, Axonal, With Pyramidal Features, Autosomal Recessive Charcot-Marie-Tooth Neuropathy, Axonal, With Pyramidal Features, Autosomal Recessive Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Pyramidal Features Autosomal Recessive Axonal Charcot-Marie-Tooth Neuropathy With Pyramidal Features Charcot-Marie-Tooth Disease, Type 2h
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Charcot-Marie-Tooth Disease, Axonal, Type 2i	CMT2I Charcot-Marie-Tooth Disease, Type 2i Charcot-Marie-Tooth Disease Type 2i Charcot-Marie-Tooth Neuropathy Type 2i Charcot-Marie-Tooth Neuropathy, Type 2i Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i Charcot-Marie-Tooth Disease 2i Charcot-Marie-Tooth Disease Axonal Type 2i Charcot-Marie-Tooth Disease Neuronal Type 2i
Charcot-Marie-Tooth Disease, Axonal, Type 2a1	CMT2A1 Charcot-Marie-Tooth Disease Type 2a1 Hereditary Motor And Sensory Neuropathy Iia1 Hmsn Iia1 Hmsn2a1 Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease Neuronal Type 2a1 Charcot-Marie-Tooth Neuropathy Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1 Charcot-Marie-Tooth Disease, Neuronal, Type 2a1 Charcot-Marie-Tooth Neuropathy, Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 Charcot-Marie-Tooth Disease 2a1 Charcot-Marie-Tooth Disease Axonal Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2j	CMT2J Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease Type 2j Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities Charcot-Marie-Tooth Neuropathy Type 2j Charcot-Marie-Tooth Neuropathy, Type 2j Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j Charcot-Marie-Tooth Disease 2j Charcot-Marie-Tooth Disease Axonal Type 2j Charcot-Marie-Tooth Disease Neuronal Type 2j
Charcot-Marie-Tooth Disease Intermediate Type	Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Dominant Intermediate Charcot-Marie-Tooth Disease Recessive Intermediate Intermediate Cmt Intermediate Hereditary Motor And Sensory Neuropathy Charcot-Marie-Tooth Disease, Intermediate Type Charcot-Marie-Tooth, Intermediate
Charcot-Marie-Tooth Disease, Axonal, Type 2b2	Charcot-Marie-Tooth Disease Type 2b2 CMT2B2 Arcmt2b Charcot-Marie-Tooth Disease, Type 2b2 Ar-Cmt2b2 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2 Autosomal Recessive Axonal Cmt4c3 Charcot-Marie-Tooth Disease Neuronal Type 2b2 Charcot-Marie-Tooth Neuropathy Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2 Charcot-Marie-Tooth Disease, Neuronal, Type 2b2 Charcot-Marie-Tooth Neuropathy, Type 2b2 Charcot-Marie-Tooth Disease 2b2 Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2 Charcot-Marie-Tooth Disease Axonal Type 2b2
Hereditary Motor And Sensory Neuropathy, Type Iic	CMT2C Charcot-Marie-Tooth Disease Axonal Type 2c HMSN2C Hmsn Iic Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Neuropathy Type 2c Hereditary Motor And Sensory Neuropathy Type Iic Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c Charcot-Marie-Tooth Neuropathy, Type 2c Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease 2c Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c Charcot-Marie-Tooth Disease, Type 2c
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b	Charcot-Marie-Tooth Disease Type 1b CMT1B Hereditary Motor And Sensory Neuropathy Ib Hmsn Ib Hmsn1b Peroneal Muscular Atrophy Charcot-Marie-Tooth Disease, Type 1b Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy Charcot-Marie-Tooth Neuropathy Type 1b Charcot-Marie-Tooth Disease, Type Ib Hereditary Motor And Sensory Neuropathy I Hmsn I Hmsn1 Charcot-Marie-Tooth Neuropathy, Type 1b Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b Charcot-Marie-Tooth Disease 1b Charcot-Marie-Tooth Disease Demyelinating Type 1b Hmsn Type I Hereditary Motor And Sensory Neuropathy Type I Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease, Dominant Intermediate E	CMTDIE Charcot-Marie-Tooth Disease Dominant Intermediate E Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E Charcot-Marie-Tooth Disease-Nephropathy Syndrome Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	Charcot-Marie-Tooth Disease Type 1a CMT1A Charcot-Marie-Tooth Disease, Type Ia Hmsn1a Hereditary Motor And Sensory Neuropathy Ia Hmsn Ia Charcot-Marie-Tooth Neuropathy, Type 1a Charcot-Marie-Tooth Disease, Type 1a Charcot-Marie-Tooth Neuropathy Type 1a Hereditary Motor And Sensory Neuropathy 1a Microduplication 17p12 Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a Cmt 1a Charcot Marie Tooth Disease Type 1a Hmsn 1a Charcot-Marie-Tooth Disease 1a Charcot-Marie-Tooth Disease Demyelinating Type 1a Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
Charcot-Marie-Tooth Disease, Type 4d	Charcot-Marie-Tooth Disease Type 4d CMT4D Hmsnl Hmsn4d Charcot-Marie-Tooth Neuropathy Type 4d Hereditary Motor And Sensory Neuropathy Lom Type Hmsn-Lom Neuropathy, Hereditary Motor And Sensory, Lom Type Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d Charcot-Marie-Tooth Neuropathy, Type 4d Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d Hmsn Lom Type Hmsn, Lom Type Hereditary Motor And Sensory Neuropathy, Lom Type Charcot-Marie-Tooth Disease 4d Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d Hereditary Motor And Sensory Neuropathy Ivd Hmsn Ivd
Charcot-Marie-Tooth Disease, Type 4c	Charcot-Marie-Tooth Disease Type 4c CMT4C Charcot-Marie-Tooth Neuropathy Type 4c Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c Charcot-Marie-Tooth Neuropathy, Type 4c Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c Charcot-Marie-Tooth Disease 4c Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f	Charcot-Marie-Tooth Disease Type 4f CMT4F Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease 4f Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f Charcot-Marie-Tooth Neuropathy Type 4f Dejerine-Sottas Disease
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Charcot-Marie-Tooth Disease Recessive Intermediate D CMTRID Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type D Ri-Cmt Type D Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, D
Charcot-Marie-Tooth Disease, Axonal, Type 2l	Charcot-Marie-Tooth Disease Axonal Type 2l CMT2L Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy Axonal Type 2l Charcot-Marie-Tooth Disease 2l Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l Charcot-Marie-Tooth Disease Neuronal Type 2l Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Disease, Type 2l Charcot-Marie-Tooth Disease, Type 2i
Neuronopathy, Distal Hereditary Motor, Type Va	Dsmav Distal Hereditary Motor Neuropathy Type V Young Adult-Onset Distal Hereditary Motor Neuropathy Neuronopathy, Distal Hereditary Motor, Type V Distal Hereditary Motor Neuronopathy Type 5 Dhmn5 Distal Spinal Muscular Atrophy Type 5 HMN5A Hmn5 Dhmn5a Dhmn Va Dsmava Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Distal Hmn V Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 Dsma5 Young Adult-Onset Dhmn Dhmn-V Hmn V Neuronopathy, Distal Hereditary Motor, Type 5a Hmn 5a Neuropathy, Distal Hereditary Motor, Type Va Spinal Muscular Atrophy, Distal, Type Va Spinal Muscular Atrophy, Distal, Type V Distal Spinal Muscular Atrophy Type V Distal Spinal Muscular Atrophy With Upper Limb Predominance Distal Hereditary Motor Neuronopathy Type 5a Distal Hmn Va Distal Spinal Muscular Atrophy Type Va Distal Hereditary Motor Neuropathy, Type V Distal Hereditary Motor Neuronopathy, Type V Distal Spinal Muscular Atrophy, Type V Spinal Muscular Atrophy, Distal Type V Distal Hereditary Motor Neuropathy Type 5 Neuronopathy, Distal Hereditary Motor, 5a Dhmn V Distal Hereditary Motor Neuronopathy Type Va Distal Hereditary Motor Neuropathy Type Va Dsma-V Hmn Va Spinal Muscular Atrophy Distal Type V Spinal Muscular Atrophy Distal Type Va Spinal Muscular Atrophy Distal With Upper Limb Predominance Neuropathy, Distal Hereditary Motor, Type V Neuropathy, Motor, Distal, Hereditary, Type Va
Charcot-Marie-Tooth Disease, Axonal, Type 2b	Charcot-Marie-Tooth Disease Type 2b CMT2B Hmsn Iib Hmsn2b Charcot-Marie-Tooth Disease, Type 2b Hereditary Motor And Sensory Neuropathy Iib Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b Charcot-Marie-Tooth Neuropathy Type 2b Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b Charcot-Marie-Tooth Neuropathy, Type 2b Hereditary Motor And Sensory Nueropathy Iib Cmt 2b Charcot Marie Tooth Disease Type 2b Charcot-Marie-Tooth Disease, Neuronal, Type 2b Hereditary Motor And Sensory Neuropathy 2 B Peripheral Sensory Neuropathy, Autosomal Dominant Charcot-Marie-Tooth Disease 2b Charcot-Marie-Tooth Disease Axonal Type 2b Charcot-Marie-Tooth Disease Neuronal Type 2b Peripheral Sensory Neuropathy Autosomal Dominant Psn
Charcot-Marie-Tooth Disease, Axonal, Type 2f	Charcot-Marie-Tooth Disease Axonal Type 2f CMT2F Charcot-Marie-Tooth Disease, Neuronal, Type 2f Charcot-Marie-Tooth Neuropathy, Type 2f Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Neuropathy Type 2f Charcot-Marie-Tooth Neuronal Type 2f Charcot-Marie-Tooth Disease Type 2f Cmt 2f Charcot Marie Tooth Disease Type 2f Charcot-Marie-Tooth Disease 2f Charcot-Marie-Tooth Disease Neuronal Type 2f Charcot-Marie-Tooth Disease, Type 2f
Charcot-Marie-Tooth Disease Dominant Intermediate A	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type A Cmtdia Charcot-Marie-Tooth Neuropathy Dominant Intermediate A Di-Cmta Charcot-Marie-Tooth Disease, Dominant Intermediate, Type A
Neuropathy, Hereditary, With Liability To Pressure Palsies	Tomaculous Neuropathy Hereditary Neuropathy With Liability To Pressure Palsies HNPP Polyneuropathy, Familial Recurrent Neuropathy, Recurrent, With Pressure Palsies Current Pressure-Sensitive Neuropathy Familial Recurrent Polyneuropathy Heterozygous Microdeletion 17p11.2p12 Potato-Grubbing Palsy Tulip-Bulb Digger'S Palsy Compression Neuropathy Entrapment Neuropathy Familial Pressure Sensitive Neuropathy Hereditary Motor And Sensory Neuropathy Hereditary Pressure Sensitive Neuropathy Inherited Tendency To Pressure Palsies Hereditary Liability To Pressure Palsies Nerve Compression Syndrome Entrapment Neuropathies Hereditary Motor And Sensory Neuropathies
Charcot-Marie-Tooth Disease Type 2a2a	Charcot-Marie-Tooth Disease, Type 2a2a Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2a2 Charcot-Marie-Tooth Neuronal Type 2a2 Charcot-Marie-Tooth Neuropathy Type 2a2 Cmt2a2a Hereditary Motor And Sensory Neuropathy Iia2 Hmsn Iia2 Hmsn2a2
Charcot-Marie-Tooth Disease, Type 4b2	Charcot-Marie-Tooth Disease Type 4b2 CMT4B2 Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2 Charcot-Marie-Tooth Neuropathy, Type 4b2 Charcot-Marie-Tooth Neuropathy Type 4b2 Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2 Cmt 4b2 Charcot Marie Tooth Disease Type 4b2 Charcot-Marie-Tooth Disease 4b2 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	CMTX1 Cmtx Charcot-Marie-Tooth Disease X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 X-Linked Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked Cmt1x X-Linked Charcot-Marie-Tooth Disease Type 1 X-Linked Hereditary Motor And Sensory Neuropathy Hereditary Motor And Sensory Neuropathy, X-Linked Hmsn, X-Linked Charcot-Marie-Tooth Neuropathy, X-Linked, 1 Cmt2, Formerly Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy X-Linked 1 Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked Hereditary Motor And Sensory Neuropathy X-Linked Hmsn X-Linked Charcot-Marie-Tooth, X-Linked Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1 Charcot-Marie-Tooth Disease, X-Linked, 1
Charcot-Marie-Tooth Disease, Dominant Intermediate F	CMTDIF Charcot-Marie-Tooth Disease Dominant Intermediate F Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F
Charcot-Marie-Tooth Disease, Axonal, Type 2b1	Charcot-Marie-Tooth Disease Type 2b1 Charcot-Marie-Tooth Disease, Type 2b1 CMT2B1 Autosomal Recessive Axonal Cmt4c1 Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1 Charcot-Marie-Tooth Disease Neuronal Type 2b1 Charcot-Marie-Tooth Neuropathy Type 2b1 Charcot-Marie-Tooth Disease, Neuronal, Type 2b1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1 Charcot-Marie-Tooth Neuropathy, Type 2b1 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1 Ar-Cmt2b1 Charcot-Marie-Tooth Disease 2b1 Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1 Charcot-Marie-Tooth Disease Axonal Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2t	CMT2T Charcot-Marie-Tooth Disease Axonal Type 2t Charcot-Marie-Tooth Neuropathy, Type 2t Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t Ar-Cmt2t Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy Type 2t Charcot-Marie-Tooth Disease Type 2t Mme-Related Autosomal Dominant Cmt2 Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Disease 2t Charcot-Marie-Tooth Neuropathy Axonal Type 2t
Spastic Paraplegia 55, Autosomal Recessive	SPG55 Hereditary Spastic Paraplegia 55 Autosomal Recessive Spastic Paraplegia Type 55 Autosomal Recessive Spastic Paraplegia 55 Paraplegia, Spastic, Autosomal Recessive, Type 55
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d	Charcot-Marie-Tooth Disease Type 1d CMT1D Hmsn Id Hmsn1d Charcot-Marie-Tooth Disease, Type 1d Hereditary Motor And Sensory Neuropathy 1d Charcot-Marie-Tooth Neuropathy Type 1d Charcot-Marie-Tooth Neuropathy, Type 1d Charcot-Marie-Tooth Disease 1d Charcot-Marie-Tooth Disease Demyelinating Type 1d Hereditary Motor And Sensory Neuropathy Id Charcot-Marie-Tooth Disease, Type Id
Charcot-Marie-Tooth Disease, Type 4b1	Charcot-Marie-Tooth Disease Type 4b1 CMT4B1 Cmt4b Charcot-Marie-Tooth Neuropathy Type 4b1 Charcot-Marie-Tooth Disease Type 4b Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1 Charcot-Marie-Tooth Neuropathy, Type 4b1 Charcot-Marie-Tooth Disease, Type 4b Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1 Charcot-Marie-Tooth Disease 4b1 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
Charcot-Marie-Tooth Disease, Dominant Intermediate B	CMTDIB Charcot-Marie-Tooth Disease Dominant Intermediate B Di-Cmtb Cmtdi1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m Charcot-Marie-Tooth Neuropathy Dominant Intermediate B CMT2M Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B Charcot-Marie-Tooth Disease, Axonal Type 2m Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Charcot-Marie-Tooth Disease 2m Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m Charcot-Marie-Tooth Disease Axonal Type 2m Charcot-Marie-Tooth Neuropathy Axonal Type 2m Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B Charcot-Marie-Tooth Disease, Axonal, Type 2m Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B
Charcot-Marie-Tooth Disease, Axonal, Type 2d	Charcot-Marie-Tooth Disease Type 2d CMT2D Charcot-Marie-Tooth Disease, Type 2d Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Neuronal Type 2d Charcot-Marie-Tooth Neuropathy Type 2d Charcot-Marie-Tooth Disease, Neuronal, Type 2d Charcot-Marie-Tooth Neuropathy, Type 2d Charcot-Marie-Tooth Disease 2d Charcot-Marie-Tooth Disease Axonal Type 2d
Hypertrophic Neuropathy Of Dejerine-Sottas	Dejerine-Sottas Disease Dejerine-Sottas Syndrome Charcot-Marie-Tooth Disease Type 3 DSS Hereditary Motor And Sensory Neuropathy Type Iii Hmsn3 Dejerine-Sottas Neuropathy Hmsn Iii Charcot-Marie-Tooth Disease, Type 3 Cmt3 Dsn Hmsn 3 Hereditary Motor And Sensory Neuropathy Type 3 Hereditary Motor And Sensory Neuropathy 3 Hypertrophic Neuropathy Of Infancy Charcot-Marie-Tooth Disease Demyelinating Type 4f Charcot-Marie-Tooth Disease Type 4f Charcot-Marie-Tooth Neuropathy Type 4f Cmt4f Hereditary Motor And Sensory Neuropathy Iii Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease, Type 4h	Charcot-Marie-Tooth Disease Type 4h CMT4H Charcot-Marie-Tooth Neuropathy Type 4h Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h Charcot-Marie-Tooth Neuropathy, Type 4h Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h Charcot-Marie-Tooth Disease 4h Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Charcot-Marie-Tooth Disease, Dominant Intermediate C	CMTDIC Charcot-Marie-Tooth Disease Dominant Intermediate C Di-Cmtc Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C Charcot-Marie-Tooth Neuropathy Dominant Intermediate C Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
Charcot-Marie-Tooth Disease, Axonal, Type 2r	Charcot-Marie-Tooth Disease Type 2r CMT2R Charcot-Marie-Tooth Neuropathy, Type 2r Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r Charcot-Marie-Tooth Disease, Type 2r Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r Charcot-Marie-Tooth Neuropathy Type 2r Charcot-Marie-Tooth Disease 2r Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Disease Axonal Type 2r Charcot-Marie-Tooth Neuropathy Axonal Type 2r
Neuropathy, Hereditary Motor And Sensory, Russe Type	Charcot-Marie-Tooth Disease Type 4g HMSNR Cmt4g Hereditary Motor And Sensory Neuropathy, Russe Type Charcot-Marie-Tooth Disease, Type 4g Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g Charcot-Marie-Tooth Neuropathy Type 4g Charcot-Marie-Tooth Neuropathy, Type 4g Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g Hereditary Motor And Sensory Neuropathy Russe Type Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g
Charcot-Marie-Tooth Disease, Axonal, Type 2n	Charcot-Marie-Tooth Disease Axonal Type 2n CMT2N Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Neuropathy Axonal Type 2n Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease 2n Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n Charcot-Marie-Tooth Disease, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2p	CMT2P Charcot-Marie-Tooth Disease Axonal Type 2p Charcot-Marie-Tooth Disease Type 2p Charcot-Marie-Tooth Neuropathy, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly Cmt2g, Formerly Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Toothe Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease 2p Charcot-Marie-Tooth Disease, Axonal Type 2g Charcot-Marie-Tooth Neuropathy Axonal Type 2p Cmt2g Charcot-Marie-Tooth Disease, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g
Neuronopathy, Distal Hereditary Motor, Type Iib	HMN2B Hmn Iib Neuropathy, Distal Hereditary Motor, Type Iib Dhmn2b Distal Hereditary Motor Neuropathy Type 2b Distal Hereditary Motor Neuropathy Type Iib Neuronopathy, Distal Hereditary Motor, Type 2b Neuronopathy, Distal Hereditary Motor, 2b Dhmn Ii Neuropathy, Motor, Distal, Hereditary, Type 2b
Charcot-Marie-Tooth Disease Type 2a2b	Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency Ar-Cmt2, Ouvrier Type Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type Seoan Due To Mfn2 Deficiency Charcot-Marie-Tooth Disease, Axonal, Type 2a2b Cmt2a2b Charcot-Marie-Tooth Disease, Type 2a2b
Charcot-Marie-Tooth Disease, Type 4j	Charcot-Marie-Tooth Disease Type 4j CMT4J Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j Charcot-Marie-Tooth Disease 4j
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Hereditary Sensory And Autonomic Neuropathy Type 2 Hsan2 HSAN2A Morvan Disease Hereditary Sensory And Autonomic Neuropathy Type Ii Neurogenic Acroosteolysis Hsan Iia Hsn2a Hsn Iia Neuropathy, Progressive Sensory, Of Children Neuropathy, Congenital Sensory Neuropathy, Hereditary Sensory And Autonomic, Type Ii Hereditary Sensory And Autonomic Neuropathy Type 2a Hereditary Sensory And Autonomic Neuropathy Type Iia Hsanii Congenital Sensory Neuropathy Hsan Type Ii Morvan Syndrome Neuropathy, Hereditary Sensory And Autonomic, Type 2a Morvan'S Disease Neuropathy, Hereditary Sensory, Type Iia Acroosteolysis, Neurogenic Acroosteolysis, Giaccai Type Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive Hereditary Sensory Autonomic Neuropathy Type 2 Giaccai Type Acroosteolysis Hereditary Sensory Neuropathy Type 2 Hereditary Sensory Radicular Neuropathy, Recessive Form Hsan2b Hsan2c Hsan2d Hsn Type Ii Autosomal Recessive Sensory Radicular Neuropathy Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome Morvan Fibrillary Chorea Neuropathy, Hereditary Sensory And Autonomic, 2a Acroosteolysis Giaccai Type Hereditary Sensory Neuropathy Type Iia Hereditary Sensory Radicular Neuropathy Autosomal Recessive Progressive Sensory Neuropathy Of Children Neuropathy Congenital Sensory Charcot-Marie-Tooth Disease Neuropathy, Sensory And Autonomic, Hereditary, Type Iia Hereditary Sensory Autonomic Neuropathy, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii Sensory Neuropathy, Hereditary Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c	Charcot-Marie-Tooth Disease Type 1c CMT1C Hmsn1c Hmsn Ic Charcot-Marie-Tooth Disease, Type 1c Charcot-Marie-Tooth Neuropathy Type 1c Cmt, Slow Nerve Conduction Type C Charcot-Marie-Tooth Neuropathy, Type 1c Neuropathy, Hereditary Motor And Sensory, Type Ic Cmt Slow Nerve Conduction Type C Neuropathy Hereditary Motor And Sensory Type 1c Charcot-Marie-Tooth Disease 1c Charcot-Marie-Tooth Disease Demyelinating Type 1c Hereditary Motor And Sensory Neuropathy Ic Charcot-Marie-Tooth Disease, Type Ic
Optic Atrophy 3, Autosomal Dominant	Optic Atrophy 3 OPA3 Autosomal Dominant Optic Atrophy And Cataract Optic Atrophy And Cataract, Autosomal Dominant Autosomal Dominant Optic Atrophy Type 3 Optic Atrophy 3 With Cataract Opa3, Autosomal Dominant Adoac Optic Atrophy, Cataract, And Neurologic Disorder Autosomal Dominant Optic Atrophy 3 Optic Atrophy Type 3 Optic Atrophy 3 Autosomal Dominant Atrophy, Optic, Type 3, Autosomal Dominant 3-Methylglutaconic Aciduria Type 3
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Hereditary Sensory Neuropathy	Hereditary Sensory And Autonomic Neuropathy Hereditary Sensory And Autonomic Neuropathies Familial Dysautonomia, Type Ii Hsan Sensory Neuropathy Hereditary Neuropathy, Sensory And Autonomic, Hereditary Neuropathy, Sensory, Hereditary Sensory Neuropathy, Hereditary Charcot-Marie-Tooth Disease Cmt - [Charcot-Marie-Tooth Disease]
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05346	GDAP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GDAP1	RGD	RGD:1309005
Macaca mulatta	GDAP1	VGNC	VGNC:72725
Felis catus	GDAP1	VGNC	VGNC:62498
Mus musculus	GDAP1	MGD	MGI:1338002
Bos taurus	GDAP1	VGNC	VGNC:29295
Canis familiaris	GDAP1	VGNC	VGNC:41155
Others	GDAP1	NCBI