GJB1 - gap junction protein beta 1 Gene

Homo sapiens

Also known as CMTX; CX32; CMTX1

Gene ID: 2705 | Gene type: protein coding

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

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

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

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