GJB1 - gap junction protein beta 1 Gene

Also Known as CMTX; CX32; CMTX1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2705

About GJB1

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:71,215,239-71,225,516 (from NCBI)

This gene has 11 transcripts (splice variants), 265 orthologues, 20 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 81.6), kidney (RPKM 24.7) and 10 other tissues.

Summary

This gene encodes a member of the Gap Junction Protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]

GJB1 Products (2)

mRNA	Protein	Name
NM_000166.6	NP_000157.1	gap junction beta-1 protein
NM_001097642.3	NP_001091111.1	gap junction beta-1 protein

Gene Ontology

Molecular Function

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

GJB1 Protein Structure

Connexin

0
100
200
283 a.a.

Protein Preferred Names	Protein Names
gap junction beta-1 protein	GAP junction 28 kDa liver protein

GJB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GJB1	P08034	TTMP	Homo sapiens	Q5BVD1	Validated Y2H	32296183
Intra	GJB1	P08034	RTP2	Homo sapiens	Q5QGT7	Validated Y2H	32296183
Intra	GJB1	P08034	TEX264	Homo sapiens	Q9Y6I9	Validated Y2H	32296183
Intra	GJB1	P08034	CMTM5	Homo sapiens	Q96DZ9-2	Validated Y2H	32296183
Intra	GJB1	P08034	MFF	Homo sapiens	Q9GZY8-5	Validated Y2H	32296183
Intra	GJB1	P08034	CLEC7A	Homo sapiens	Q9BXN2-6	Validated Y2H	32296183
Intra	GJB1	P08034	CTXN3	Homo sapiens	Q4LDR2	Validated Y2H	32296183
Intra	GJB1	P08034	MS4A13	Homo sapiens	Q5J8X5	Validated Y2H	32296183
Intra	GJB1	P08034	NDUFB11	Homo sapiens	Q9NX14	Validated Y2H	32296183
Intra	GJB1	P08034	SLC12A7	Homo sapiens	Q9Y666-2	Validated Y2H	32296183
Intra	GJB1	P08034	EFNA5	Homo sapiens	P52803	Validated Y2H	32296183
Intra	GJB1	P08034	LHFPL2	Homo sapiens	Q6ZUX7	Validated Y2H	32296183
Intra	GJB1	P08034	TMEM14C	Homo sapiens	Q9P0S9	Validated Y2H	32296183
Intra	GJB1	P08034	ITGAM	Homo sapiens	P11215	Validated Y2H	32296183
Intra	GJB1	P08034	COMT	Homo sapiens	P21964	Validated Y2H	32296183
Intra	GJB1	P08034	GJB2	Homo sapiens	P29033	Validated Y2H	32296183
Intra	GJB1	P08034	EMP3	Homo sapiens	P54852	Validated Y2H	32296183
Intra	GJB1	P08034	CXCL9	Homo sapiens	Q07325	Validated Y2H	32296183
Intra	GJB1	P08034	BMP10	Homo sapiens	O95393	Y2H Prey Pooling	32296183
Intra	GJB1	P08034	MAL	Homo sapiens	P21145	Validated Y2H	32296183
Intra	GJB1	P08034	CD37	Homo sapiens	P11049	Validated Y2H	32296183
Intra	GJB1	P08034	VEGFA	Homo sapiens	P15692-12	Validated Y2H	32296183
Intra	GJB1	P08034	CMTM3	Homo sapiens	Q96MX0	Validated Y2H	32296183
Intra	GJB1	P08034	IER3IP1	Homo sapiens	Q9Y5U9	Validated Y2H	32296183
Intra	GJB1	P08034	STX8	Homo sapiens	Q9UNK0	Validated Y2H	32296183
Intra	GJB1	P08034	TMEM98	Homo sapiens	Q9Y2Y6	Validated Y2H	32296183
Intra	GJB1	P08034	TMEM19	Homo sapiens	Q96HH6	Validated Y2H	32296183
Intra	GJB1	P08034	PTPN9	Homo sapiens	P43378	Validated Y2H	32296183
Intra	GJB1	P08034	YIPF6	Homo sapiens	Q96EC8	Validated Y2H	32296183
Intra	GJB1	P08034	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183
Intra	GJB1	P08034	CD79A	Homo sapiens	P11912	Validated Y2H	32296183
Intra	GJB1	P08034	CD79A	Homo sapiens	P11912	Y2H Array	32296183
Intra	GJB1	P08034	TM4SF4	Homo sapiens	P48230	Validated Y2H	32296183
Intra	GJB1	P08034	MAL2	Homo sapiens	Q969L2	Validated Y2H	32296183
Intra	GJB1	P08034	NIPAL4	Homo sapiens	Q0D2K0	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

GJB1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83215	Connexin 32 Antibody (YA2960)	WB, IHC-P, FC	Human

Related Diseases

Diseases	Alias
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
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
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	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
Spinocerebellar Ataxia, X-Linked 1	X-Linked Progressive Cerebellar Ataxia SCAX1 Opcax X-Linked Spinocerebellar Ataxia 1 Olivopontocerebellar Atrophy, X-Linked Opca, X-Linked Olivopontocerebellar Atrophy X-Linked Opca X-Linked Ataxia, Spinocerebellar, X-Linked Type 1
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Sensory Peripheral Neuropathy	Sensory Neuropathy Peripheral Sensory Neuropathy Hereditary Sensory And Autonomic Neuropathies
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Paine Syndrome	Pain Disorder Pain Microcephaly With Spastic Diplegia Pain Syndrome
Hereditary Neuropathies	Hereditary Neuropathy
Charcot-Marie-Tooth Disease Type X
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, X-Linked Recessive, 2	CMTX2 Charcot-Marie-Tooth Disease X-Linked Recessive 2 X-Linked Charcot-Marie-Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2 Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
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
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, 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 D	CMTDID Charcot-Marie-Tooth Disease Dominant Intermediate D Di-Cmtd Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D Charcot-Marie-Tooth Neuropathy Dominant Intermediate D Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, D Charcot-Marie-Tooth Disease, Dominant Intermediate, Type D
Oculodentodigital Dysplasia	Odd Syndrome ODDD Oculodentoosseous Dysplasia Oculodentodigital Syndrome Odod Oculo-Dento-Digital Dysplasia Oculo-Dento-Digital Syndrome Oculo-Dento-Osseous Dysplasia Osseous-Oculo-Dental Dysplasia Meyer-Schwickerath Syndrome Oddd Syndrome Oculo Dento Digital Dysplasia Odds Oculodentodigital Dysplasia Syndrome
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
Leukodystrophy, Hypomyelinating, 2	Pmld1 Hypomyelinating Leukodystrophy 2 HLD2 Pelizaeus-Merzbacher-Like Disease 1 Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation Pelizaeus-Merzbacher-Like Disease Type 1 Pelizaeus-Merzbacher-Like Disease, 1 Pelizaeus Merzbacher Like Disease Pelizaeus-Merzbacher-Like Disease Pmld - Pelizaeus Merzbacher Like Disease Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1 Pmldar1 Leukodystrophy, Hypomyelinating, Type 2
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 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
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, 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, 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 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
Polyneuropathy	Polyneuropathies
Spastic Paraplegia 44, Autosomal Recessive	SPG44 Hereditary Spastic Paraplegia 44 Autosomal Recessive Spastic Paraplegia 44 Autosomal Recessive Spastic Paraplegia Type 44 Paraplegia, Spastic, Type 44, Autosomal Recessive
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
Bart-Pumphrey Syndrome	Knuckle Pads, Leukonychia, And Sensorineural Deafness BAPS Knuckle Pads, Leuconychia And Sensorineural Deafness Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome Knuckle Pads, Deafness And Leukonychia Syndrome Knuckle Pads, Deafness, And Leukonychia Syndrome Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome
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
Clouston Syndrome	Ectodermal Dysplasia 2, Clouston Type Hidrotic Ectodermal Dysplasia ECTD2 Clouston'S Hidrotic Ectodermal Dysplasia Hidrotic Ectodermal Dysplasia Syndrome Clouston Hidrotic Ectodermal Dysplasia Clouston'S Syndrome Ed2 Ectodermal Dysplasia, Hidrotic Hed2 Ectodermal Dysplasia Ectodermal Dysplasia, Hidrotic, Autosomal Dominant Ectodermal Dysplasia, Hidrotic, 2, Formerly Hed2, Formerly Autosomal Dominant Hidrotic Ectodermal Dysplasia Hed Hidrotic Ectodermal Dysplasia, Autosomal Dominant Hidrotic Ectodermal Dysplasia 2 Ectodermal Dysplasia 2 Hidrotic Ectodermal Dysplasia Hidrotic Autosomal Dominant Dysplasia, Ectodermal, Hidrotic
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
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Gamstorp-Wohlfart Syndrome Autosomal Recessive Axonal Neuropathy With Neuromyotonia NMAN Myokymia, Myotonia, And Muscle Wasting Aran-Nm Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 With Neuromyotonia Autosomal Recessive Neuromyotonia And Axonal Neuropathy Arcmt2-Nm Myokymia, Myotonia And Muscle Wasting Myokymia Myotonia And Muscle Wasting Isaacs Syndrome
Demyelinating Polyneuropathy	Peripheral Demyelinating Neuropathy Demyelinating Peripheral Neuropathy
Charcot-Marie-Tooth Disease Type 1g	Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1 Pmp2-Related Cmt1 Pmp2-Related Hereditary Motor And Sensory Neuropathy Type 1 Cmt1g
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
Vohwinkel Syndrome	Mutilating Keratoderma Keratoderma Hereditarium Mutilans Khm VOWNKL Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes Mutilating Keratoderma Of Vohwinkel Mutilating Keratoderma Plus Deafness Ppk Mutilans And Deafness Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes Palmoplantar Keratoderma Mutilans Palmoplantar Keratoderma Mutilans Vohwinkel Ppk Mutilans Vohwinkel Mutilating Keratoderma Plus Hearing Loss Ppk Mutilans And Hearing Loss
Charcot-Marie-Tooth Disease, Axonal, Type 2q	Charcot-Marie-Tooth Disease Axonal Type 2q CMT2Q Charcot-Marie-Tooth Neuropathy, Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2q Charcot-Marie-Tooth Neuropathy Type 2q Charcot-Marie-Tooth Disease 2q Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2q Charcot-Marie-Tooth Neuropathy Axonal Type 2q
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, Demyelinating, Type 1f	Charcot-Marie-Tooth Disease Type 1f CMT1F Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Neuropathy Type 1f Charcot-Marie-Tooth Neuropathy, Type 1f Charcot-Marie-Tooth Disease Type 2b5 Ar-Cmt2b5 Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5 Seoan Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency Charcot-Marie-Tooth Disease 1f Charcot-Marie-Tooth Disease Demyelinating Type 1f Charcot-Marie-Tooth Disease, Type If
Cataract 37	CTRCT37 Cca5 Cataract, Congenital, Cerulean Type, 5 Cataract 37, Autosomal Dominant Congenital Cataract Cerulean Type 5
Balo Concentric Sclerosis	Balo'S Concentric Sclerosis Balo Disease Diffuse Cerebral Sclerosis Of Schilder Tumefactive Multiple Sclerosis Concentric Demyelination Balo'S Disease Baló Concentric Sclerosis Encephalitis Periaxialis Concentrica Marburg Variant
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type
Hallermann-Streiff Syndrome	Francois Dyscephalic Syndrome HSS Hallermann'S Syndrome Oculomandibulofacial Syndrome Hallerman - Streiff Syndrome François Dyscephalic Syndrome Hallermann Streiff Francois Syndrome Hallermann Streiff Syndrome
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	CMTX5 Rosenberg-Chutorian Syndrome Charcot-Marie-Tooth Disease X-Linked Recessive 5 Optic Atrophy, Polyneuropathy, And Deafness Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5 Cmt5x X-Linked Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5 Optic Atrophy Polyneuropathy Deafness Optic Atrophy With Polyneuropathy And Deafness Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5
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, 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
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	HSAN1C Hsan Ic Hsn1c Hsn Ic Hereditary Sensory And Autonomic Neuropathy Type 1c Neuropathy, Hereditary Sensory And Autonomic, Type 1c Neuropathy, Hereditary Sensory, Type Ic Hereditary Sensory And Autonomic Neuropathy Type Ic Neuropathy, Hereditary Sensory And Autonomic, 1c Hereditary Sensory Neuropathy Type Ic Neuropathy, Hereditary Sensory/Autonomic, Type Ic Neuropathy, Sensory And Autonomic, Hereditary, Type Ic
Craniometaphyseal Dysplasia, Autosomal Recessive	CMDR Autosomal Recessive Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Autosomal Recessive Type Dysplasia, Craniometaphyseal, Autosomal Recessive
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
Keratoderma, Palmoplantar, With Deafness	Palmoplantar Keratoderma-Deafness Syndrome Palmoplantar Keratoderma With Deafness Palmoplantar Hyperkeratosis-Deafness Syndrome Palmoplantar Hyperkeratosis-Hearing Loss Syndrome Palmoplantar Keratoderma-Hearing Loss Syndrome Ppk-Deafness Syndrome Keratoderma Palmoplantar Deafness Diffuse Palmoplantar Keratoderma With Deafness Focal Palmoplantar Keratoderma With Sensorineural Deafness Hereditary Palmoplantar Keratoderma With Deafness Keratoderma Palmoplantar, With Deafness Palmoplantar Keratoderma And Sensorineural Deafness Ppk With Deafness PPKDFN Keratoderma Palmoplantar, Deafness
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 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, 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
Palmoplantar Keratoderma And Congenital Alopecia 1	Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia PPKCA1 Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type Ppk-Ca, Stevanovic Type Ppkca, Stevanovic Type Palmoplantar Keratoderma With Congenital Alopecia Ppkca Stevanovic Type Alopecia Congenita With Hyperkeratosis Of The Palms And Soles Alopecia Congenita Keratosis Palmoplantaris Keratoderma, Palmoplantar, With Congenital Alopecia, Type 1
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Pcwh Syndrome PCWH Neurologic Waardenburg-Shah Syndrome Waardenburg-Shah Syndrome, Neurologic Variant Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease Ws4 Plus Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease Waardenburg-Shah Syndrome Neurologic Variant
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd
Brachial Plexus Neuropathy	Brachial Plexopathy Brachial Plexus Neuropathies Brachial Plexus Disorder Bpn - [Brachial Plexus Neuropathy] Brachial Plexus Disease Neuropathic Plexus Brachialis Brachial Plexus Syndrome Brachial Plexus Irritation Brachial Plexus Lesion Brachial Plexus Pressure Compression Of Brachial Plexus
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
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
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, 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
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
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Schwannoma Of Twelfth Cranial Nerve	Hypoglossal Schwannoma Schwannoma Of The Twelfth Cranial Nerve
Hypoglossal Nerve Disease	Hypoglossal Nerve Diseases Disorder Of 12th Nerve Disorder Of Hypoglossal [12th] Nerve Disorder Of Hypoglossal Nerve Disorder Of Xii Nerve Disorders Of The Twelfth Cranial Nerve Disorders Of 12th Cranial Nerve
Mononeuropathy	Mononeuropathies
Waardenburg Syndrome, Type 4a	Waardenburg-Shah Syndrome Shah-Waardenburg Syndrome Waardenburg Syndrome Type 4a WS4A Ws4 Waardenburg Syndrome Type 4 Waardenburg Syndrome Type Iva Waardenburg Syndrome With Hirschsprung Disease Type 4a Hirschsprung Disease With Pigmentary Anomaly Waardenburg-Hirschsprung Syndrome Waardenburg Syndrome, Type Iva Waardenburg Syndrome With Hirschsprung Disease, Type 4a Waardenburg-Hirschsprung Disease Waardenburg Syndrome, Type 4 Waardenburg Syndrome 4a
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Pelizaeus-Merzbacher Disease	PMD HLD1 Pelizaeus-Merzbacher Brain Sclerosis Leukodystrophy, Hypomyelinating, 1 Diffuse Familial Brain Sclerosis Pelizaeus Merzbacher Brain Sclerosis Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type Cockayne-Pelizaeus-Merzbacher Disease Hypomyelinating Leukodystrophy 1 Leukodystrophy, Sudanophilic Pelizaeus Merzbacher Disease Hypomyelinating Leukodystrophy, 1 Sudanophilic Leukodystrophy Pelizaeus-Merzbacher Disease, Connatal Form Connatal Pmd Pelizaeus-Merzbacher Disease Type Ii Severe Pmd Null Syndrome Plp1 Null Syndrome Pelizaeus-Merzbacher Disease, Null Syndrome Brain Sclerosis Diffuse Familial Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type Leukodystrophy Hypomyelinating 1 Diffuse Cerebral Sclerosis Of Schilder
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
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
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

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-RS05446	GJB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GJB1	MGD	MGI:95719
Felis catus	GJB1	VGNC	VGNC:62565
Bos taurus	GJB1	VGNC	VGNC:29376
Canis familiaris	GJB1	VGNC	VGNC:41237
Macaca mulatta	GJB1	VGNC	VGNC:73059
Rattus norvegicus	GJB1	RGD	RGD:61926
Others	GJB1	NCBI