1. Gene
  2. PMP22 - peripheral myelin protein 22 Gene

PMP22 - peripheral myelin protein 22 Gene

中文名称:外周髓鞘蛋白 22

种属: Homo sapiens

同用名: DSS; CIDP; GAS3; HNPP; CMT1A; CMT1E; GAS-3; Sp110; HMSNIA

基因 ID: 5376 | 基因类型: protein coding

关于 PMP22

Cytogenetic location: 17p12 Genomic coordinates (GRCh38): 17:15,229,779-15,265,326 (from NCBI)

This gene has 31 transcripts (splice variants), 261 orthologues, 10 paralogues and is associated with 12 phenotypes. Broad expression in small intestine (RPKM 54.6), placenta (RPKM 43.6) and 22 other tissues.

功能概要

该基因编码一种完整的膜蛋白,它是周围神经系统中髓磷脂的主要成分。研究表明,两种交替使用的启动子驱动组织特异性表达。该基因的各种突变是 IA 型 Charcot-Marie-Tooth 病、Dejerine-Sottas 综合征和易患压力性麻痹的遗传性神经病的原因。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 7 月]

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PMP22 基因产物(6)

mRNA Protein Name
NM_000304.4 NP_000295.1 peripheral myelin protein 22 isoform 1
NM_001281455.2 NP_001268384.1 peripheral myelin protein 22 isoform 1
NM_001281456.2 NP_001268385.1 peripheral myelin protein 22 isoform 1
NM_001330143.2 NP_001317072.1 peripheral myelin protein 22 isoform 2
NM_153321.3 NP_696996.1 peripheral myelin protein 22 isoform 1
NM_153322.3 NP_696997.1 peripheral myelin protein 22 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12107182 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in apoptotic process IDA
IDA: 通过直接分析推断
12107182 GOA
involved in bleb assembly IDA
IDA: 通过直接分析推断
12107182 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
12107182 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PMP22 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (1 - 153)

  • 0
  • 100
  • 160 a.a.
蛋白主名 其他名称

peripheral myelin protein 22

Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)

PMP22 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra PMP22 Q01453 PGRMC2 Homo sapiens O15173
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 PGRMC2 Homo sapiens O15173
Y2H Array
32296183
Intra PMP22 Q01453 TMX1 Homo sapiens Q9H3N1
Validated Y2H
32296183
Intra PMP22 Q01453 TMX1 Homo sapiens Q9H3N1
Y2H Array
32296183
Intra PMP22 Q01453 TMX1 Homo sapiens Q9H3N1
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 JPH3 Homo sapiens Q8WXH2
Validated Y2H
32814053
Intra PMP22 Q01453 JPH3 Homo sapiens Q8WXH2
Y2H Pooling
32814053
Intra PMP22 Q01453 JPH3 Homo sapiens Q8WXH2
Y2H Array
32814053
Intra PMP22 Q01453 ARL13B Homo sapiens Q3SXY8
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 ARL13B Homo sapiens Q3SXY8
Y2H Array
32296183
Intra PMP22 Q01453 ARL13B Homo sapiens Q3SXY8
Validated Y2H
32296183
Intra PMP22 Q01453 TMEM80 Homo sapiens Q96HE8
Y2H Array
32296183
Intra PMP22 Q01453 TMEM80 Homo sapiens Q96HE8
Validated Y2H
32296183
Intra PMP22 Q01453 TMEM80 Homo sapiens Q96HE8
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 KCNJ6 Homo sapiens P48051
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 KCNJ6 Homo sapiens P48051
Y2H Array
32296183
Intra PMP22 Q01453 STOM Homo sapiens P27105
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 STOM Homo sapiens P27105
Y2H Array
32296183
Intra PMP22 Q01453 AQP2 Homo sapiens P41181
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 AQP2 Homo sapiens P41181
Y2H Array
32296183
Intra PMP22 Q01453 OPRM1 Homo sapiens P35372-10
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 OPRM1 Homo sapiens P35372-10
Y2H Array
32296183
Intra PMP22 Q01453 GPR61 Homo sapiens Q9BZJ8
Y2H Array
32296183
Intra PMP22 Q01453 GPR61 Homo sapiens Q9BZJ8
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 GPR61 Homo sapiens Q9BZJ8
Validated Y2H
32296183
Intra PMP22 Q01453 ASGR2 Homo sapiens P07307-3
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 ASGR2 Homo sapiens P07307-3
Y2H Array
32296183
Intra PMP22 Q01453 CLEC12B Homo sapiens Q2HXU8-2
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 CLEC12B Homo sapiens Q2HXU8-2
Validated Y2H
32296183
Intra PMP22 Q01453 CLEC12B Homo sapiens Q2HXU8-2
Y2H Array
32296183
Intra PMP22 Q01453 CEACAM3 Homo sapiens P40198
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 CEACAM3 Homo sapiens P40198
Y2H Array
32296183
Intra PMP22 Q01453 TLCD4 Homo sapiens Q96MV1
Y2H Array
32296183
Intra PMP22 Q01453 TLCD4 Homo sapiens Q96MV1
Validated Y2H
32296183
Intra PMP22 Q01453 TLCD4 Homo sapiens Q96MV1
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 CLDN6 Homo sapiens P56747
Y2H Array
32296183
Intra PMP22 Q01453 CLDN6 Homo sapiens P56747
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 GPRC5D Homo sapiens Q9NZD1
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 GPRC5D Homo sapiens Q9NZD1
Validated Y2H
32296183
Intra PMP22 Q01453 GPRC5D Homo sapiens Q9NZD1
Y2H Array
32296183
Intra PMP22 Q01453 TM4SF18 Homo sapiens Q96CE8
Validated Y2H
32296183
Intra PMP22 Q01453 TM4SF18 Homo sapiens Q96CE8
Y2H Array
32296183
Intra PMP22 Q01453 TM4SF18 Homo sapiens Q96CE8
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 CLDN18 Homo sapiens P56856
Y2H Array
32296183
Intra PMP22 Q01453 CLDN18 Homo sapiens P56856
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 SCN3B Homo sapiens Q9NY72
Validated Y2H
32296183
Intra PMP22 Q01453 SCN3B Homo sapiens Q9NY72
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 SCN3B Homo sapiens Q9NY72
Y2H Array
32296183
Intra PMP22 Q01453 GJA8 Homo sapiens P48165
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 GJA8 Homo sapiens P48165
Y2H Array
32296183
Intra PMP22 Q01453 SPACA1 Homo sapiens Q9HBV2
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 SPACA1 Homo sapiens Q9HBV2
Validated Y2H
32296183
Intra PMP22 Q01453 SPACA1 Homo sapiens Q9HBV2
Y2H Array
32296183
Intra PMP22 Q01453 SLC18A1 Homo sapiens P54219-3
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 SLC18A1 Homo sapiens P54219-3
Y2H Array
32296183
Intra PMP22 Q01453 CLEC14A Homo sapiens Q86T13
Y2H Array
32296183
Intra PMP22 Q01453 CLEC14A Homo sapiens Q86T13
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 CLEC14A Homo sapiens Q86T13
Validated Y2H
32296183
Intra PMP22 Q01453 ERVFRD-1 Homo sapiens P60508
Y2H Array
32296183
Intra PMP22 Q01453 ERVFRD-1 Homo sapiens P60508
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 SHISAL1 Homo sapiens Q3SXP7
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 SHISAL1 Homo sapiens Q3SXP7
Y2H Array
32296183
Intra PMP22 Q01453 SHISAL1 Homo sapiens Q3SXP7
Validated Y2H
32296183
Intra PMP22 Q01453 C16orf54 Homo sapiens Q6UWD8
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 C16orf54 Homo sapiens Q6UWD8
Validated Y2H
32296183
Intra PMP22 Q01453 C16orf54 Homo sapiens Q6UWD8
Y2H Array
32296183
Intra PMP22 Q01453 GPR42 Homo sapiens O15529
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 GPR42 Homo sapiens O15529
Y2H Array
32296183
Intra PMP22 Q01453 FAM209A Homo sapiens Q5JX71
Y2H Array
32296183
Intra PMP22 Q01453 FAM209A Homo sapiens Q5JX71
Validated Y2H
32296183
Intra PMP22 Q01453 FAM209A Homo sapiens Q5JX71
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 CLDN5 Homo sapiens O00501
Y2H Array
32296183
Intra PMP22 Q01453 CLDN5 Homo sapiens O00501
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 TSPAN12 Homo sapiens O95859
Y2H Array
32296183
Intra PMP22 Q01453 TSPAN12 Homo sapiens O95859
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 ATP6AP2 Homo sapiens O75787
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 ATP6AP2 Homo sapiens O75787
Y2H Array
32296183
Intra PMP22 Q01453 FFAR2 Homo sapiens O15552
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 FFAR2 Homo sapiens O15552
Y2H Array
32296183
Intra PMP22 Q01453 FCGRT Homo sapiens P55899
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 FCGRT Homo sapiens P55899
Y2H Array
32296183
Intra PMP22 Q01453 CD69 Homo sapiens Q07108
Validated Y2H
32296183
Intra PMP22 Q01453 CD69 Homo sapiens Q07108
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 CD69 Homo sapiens Q07108
Y2H Array
32296183
Intra PMP22 Q01453 KCNN4 Homo sapiens O15554
Y2H Array
32296183
Intra PMP22 Q01453 KCNN4 Homo sapiens O15554
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 CD3G Homo sapiens P09693
Y2H Array
32296183
Intra PMP22 Q01453 CD3G Homo sapiens P09693
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 IFNGR2 Homo sapiens P38484
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 IFNGR2 Homo sapiens P38484
Y2H Array
32296183
Intra PMP22 Q01453 SDC4 Homo sapiens P31431
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 SDC4 Homo sapiens P31431
Y2H Array
32296183
Intra PMP22 Q01453 EBP Homo sapiens Q15125
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 EBP Homo sapiens Q15125
Y2H Array
32296183
Intra PMP22 Q01453 EBP Homo sapiens Q15125
Validated Y2H
32296183
Intra PMP22 Q01453 EMP1 Homo sapiens P54849
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 EMP1 Homo sapiens P54849
Y2H Array
32296183
Intra PMP22 Q01453 EDA Homo sapiens Q92838
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 EDA Homo sapiens Q92838
Validated Y2H
32296183
Intra PMP22 Q01453 EDA Homo sapiens Q92838
Y2H Array
32296183
Intra PMP22 Q01453 SGCB Homo sapiens Q16585
Validated Y2H
32296183
Intra PMP22 Q01453 SGCB Homo sapiens Q16585
Y2H Array
32296183
Intra PMP22 Q01453 SGCB Homo sapiens Q16585
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 CREB3 Homo sapiens O43889-2
Validated Y2H
25910212
Intra PMP22 Q01453 CREB3 Homo sapiens O43889-2
Y2H Bait-Prey Pool
25910212
Intra PMP22 Q01453 CREB3 Homo sapiens O43889-2
Y2H Array
25910212
Intra PMP22 Q01453 TM4SF19 Homo sapiens Q96DZ7
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 TM4SF19 Homo sapiens Q96DZ7
Validated Y2H
32296183
Intra PMP22 Q01453 TM4SF19 Homo sapiens Q96DZ7
Y2H Array
32296183
Intra PMP22 Q01453 CD53 Homo sapiens P19397
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 CD53 Homo sapiens P19397
Y2H Array
32296183
Intra PMP22 Q01453 CREB3L1 Homo sapiens Q96BA8
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 CREB3L1 Homo sapiens Q96BA8
Validated Y2H
32296183
Intra PMP22 Q01453 CREB3L1 Homo sapiens Q96BA8
Y2H Array
32296183
Intra PMP22 Q01453 PDZK1IP1 Homo sapiens Q13113
Validated Y2H
32296183
Intra PMP22 Q01453 PDZK1IP1 Homo sapiens Q13113
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 PDZK1IP1 Homo sapiens Q13113
Y2H Array
32296183
Intra PMP22 Q01453 MS4A7 Homo sapiens Q9GZW8
Y2H Array
32296183
Intra PMP22 Q01453 MS4A7 Homo sapiens Q9GZW8
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 MS4A7 Homo sapiens Q9GZW8
Validated Y2H
32296183
Intra PMP22 Q01453 TMEM139 Homo sapiens Q8IV31
Y2H Array
32296183
Intra PMP22 Q01453 TMEM139 Homo sapiens Q8IV31
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 TMEM139 Homo sapiens Q8IV31
Validated Y2H
32296183
Intra PMP22 Q01453 SMIM3 Homo sapiens Q9BZL3
Validated Y2H
32296183
Intra PMP22 Q01453 SMIM3 Homo sapiens Q9BZL3
Y2H Prey Pooling
25416956
Intra PMP22 Q01453 SMIM3 Homo sapiens Q9BZL3
Y2H Array
25910212
Intra PMP22 Q01453 SMIM3 Homo sapiens Q9BZL3
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 SMIM3 Homo sapiens Q9BZL3
Y2H Array
25416956
Intra PMP22 Q01453 SMIM3 Homo sapiens Q9BZL3
Y2H Bait-Prey Pool
25910212
Intra PMP22 Q01453 SMIM3 Homo sapiens Q9BZL3
Y2H Array
32296183
Intra PMP22 Q01453 SMIM3 Homo sapiens Q9BZL3
Validated Y2H
25416956
Intra PMP22 Q01453 SMIM3 Homo sapiens Q9BZL3
Validated Y2H
25910212
Intra PMP22 Q01453 REEP4 Homo sapiens Q9H6H4
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 REEP4 Homo sapiens Q9H6H4
Validated Y2H
32296183
Intra PMP22 Q01453 REEP4 Homo sapiens Q9H6H4
Y2H Array
32296183
Intra PMP22 Q01453 ERGIC3 Homo sapiens Q9Y282
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 ERGIC3 Homo sapiens Q9Y282
Validated Y2H
32296183
Intra PMP22 Q01453 ERGIC3 Homo sapiens Q9Y282
Y2H Array
32296183
Intra PMP22 Q01453 SYT2 Homo sapiens Q8N9I0
Validated Y2H
32296183
Intra PMP22 Q01453 SYT2 Homo sapiens Q8N9I0
Y2H Array
32296183
Intra PMP22 Q01453 SYT2 Homo sapiens Q8N9I0
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 TMEM14B Homo sapiens Q9NUH8
Validated Y2H
32296183
Intra PMP22 Q01453 TMEM14B Homo sapiens Q9NUH8
Y2H Array
32296183
Intra PMP22 Q01453 TMEM14B Homo sapiens Q9NUH8
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 KLRC1 Homo sapiens P26715
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 KLRC1 Homo sapiens P26715
Y2H Array
32296183
Intra PMP22 Q01453 TMEM30B Homo sapiens Q3MIR4
Validated Y2H
32296183
Intra PMP22 Q01453 TMEM30B Homo sapiens Q3MIR4
Y2H Array
32296183
Intra PMP22 Q01453 TMEM30B Homo sapiens Q3MIR4
Y2H Prey Pooling
32296183
Intra PMP22 Q01453 SLC38A1 Homo sapiens Q9H2H9
Validated Y2H
32296183
Intra PMP22 Q01453 SLC38A1 Homo sapiens Q9H2H9
Y2H Array
32296183
Intra PMP22 Q01453 SLC38A1 Homo sapiens Q9H2H9
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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, 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

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

Guillain-Barre Syndrome, Familial

GBS

Acute Inflammatory Demyelinating Polyneuropathy

Polyneuropathy, Inflammatory Demyelinating, Acute

Aidp

Neuropathy, Inflammatory Demyelinating

Inflammatory Demyelinating Polyneuropathy

IDP

Polyneuropathy, Inflammatory Demyelinating

Guillain-Barré Syndrome

Guillain Barre Syndrome

Acute Inflammatory Demyelinating Polyradiculoneuropathy

Acute Ascending Paralysis

Acute Encephalomyeloradiculoneuritis

Chronic Polyradiculopathy

Landry'S Paralysis

Landry'S Disease

Roussy-Levy Hereditary Areflexic Dystasia

Roussy-Levy Syndrome

Roussy-Lévy Syndrome

Charcot-Marie-Tooth Disease

Roussy Levy Syndrome

Charcot-Marie-Tooth-Roussy-Levy Disease

Hmsn I

Hereditary Motor Sensory Neuropathy I

Hereditary Areflexic Dystasia

Roussy Levy Hereditary Areflexic Dystasia

Roussy-Levy Disease

Hereditary Areflexic Dystasia, Roussy-Levy Type

ROULS

Hereditary Motor And Sensory Neuropathy Type I

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

Guillain-Barre Syndrome

Guillain-Barré Syndrome

Acute Inflammatory Polyneuropathy

Gbs

Acute Inflammatory Demyelinating Polyneuropathy

Acute Inflammatory Demyelinating Polyradiculoneuropathy

Acute Infective Polyneuritis

Acute Inflammatory Demyelinating Polyradiculopathy

Acute Postinfectious Polyneuropathy

Infectious Neuronitis

Post-Infectious Polyneuritis

Postinfectious Polyneuritis

Acute Autoimmune Peripheral Neuropathy

Acute Immune-Mediated Polyneuropathy

Acute Inflammatory Neuropathy

Guillain-Barré-Strohl Syndrome

Landry'S Ascending Paralysis

Landry-Guillain-Barre-Strohl Syndrome

Post-Infective Polyneuritis

Acute Infectious Polyneuritis

Fisher Syndrome

Landry-Guillain-Barre Syndrome

Guillain-Barre-Strohl Syndrome

Variant Of Guillain-Barre Syndrome

Variant Of Gbs

Aidp

Acute Idiopathic Demyelinating Polyneuropathy

Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form

Miller Fisher Syndrome

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Hereditary Neuropathies

Hereditary Neuropathy

Polyradiculoneuropathy
Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Chronic Inflammatory Demyelinating Polyneuropathy

Cidp

Polyradiculoneuropathy Chronic Inflammatory Demyelinating

Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Mononeuropathy

Mononeuropathies

Polyneuropathy

Polyneuropathies

Nerve Compression Syndrome

Entrapment Neuropathies

Compression Neuropathy

Entrapment Neuropathy

Peripheral Nerve Entrapment Syndrome

Nerve Compression Syndromes

Hereditary Liability To Pressure Palsies

Demyelinating Polyneuropathy

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy

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

Motor Peripheral Neuropathy

Motor Neuritis

Peripheral Motor Neuropathy

Hereditary Motor And Sensory Neuropathy

Hsmn

Hsmn - Hereditary Sensory And Motor Neuropathy

Neuropathic Muscular Atrophy

Hereditary Sensory And Motor Neuropathy

Hereditary Motor And Sensory Neuropathies

Neuritis

Peripheral Neuritis

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

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

Carpal Tunnel Syndrome

Cts

Carpal Tunnel Syndrome, Familial

Carpal Tunnel Syndrome 1

CTS1

Amyotrophy, Thenar, Of Carpal Origin

Carpal Tunnel Median Neuropathy

Cts - Carpal Tunnel Syndrome

Median Nerve Entrapment

Carpal Canal

Carpal Tunnel

Compression Neuropathy, Carpal Tunnel

Distal Median Nerve Compression

Distal Median Nerve Entrapment

Entrapment Neuropathy, Carpal Tunnel

Median Neuropathy, Carpal Tunnel

Median Neuropathy Carpal Tunnel

Thenar Amyotrophy Of Crapal Origin

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

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Sensory Peripheral Neuropathy

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Ulnar Neuropathy

Ulnar Neuropathies

Asymmetric Motor Neuropathy
Tibial Nerve Palsy
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

Lumbosacral Plexus Lesion

Lumbosacral Plexus Lesions

Diabetic Neuropathy

Diabetic Neuropathies

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

Peroneal Nerve Paralysis

Peroneal Nerve Palsy

Median Neuropathy
Type 1 Diabetes Mellitus 6

Diabetes Mellitus, Insulin-Dependent, 6

Iddm6

Insulin-Dependent Diabetes Mellitus 6

T1D6

Insulin-Dependent Diabetes Mellitus-6

Plexopathy
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

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

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

Mononeuritis Of Lower Limb
Nephrotic Syndrome, Type 10

NPHS10

Nephrotic Syndrome Type 10

Idiopathic Steroid-Sensitive Nephrotic Syndrome

Nephrotic Syndrome 10

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

Chronic Polyneuropathy
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

Charcot-Marie-Tooth Disease Type X
Peroneal Neuropathy

Peroneal Neuropathies

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

Brachial Plexus Lesion

Brachial Plexus Injuries

Brachial Plexus Lesions

Radial Neuropathy
Myotonia
Malignant Peripheral Nerve Sheath Tumor

Mpnst

Malignant Neurilemmoma

Neurofibrosarcoma

Malignant Neurofibroma

Malignant Schwannoma

Neurogenic Sarcoma

Schwannoma, Malignant

Malignant Neoplasm Of The Peripheral Nerve Sheath

Malignant Peripheral Nerve Sheath Tumors

Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

Sciatic Neuropathy
Amyotrophic Neuralgia

Neuralgic Amyotrophy

Brachial Plexus Neuritis

Neuralgic Shoulder Amyotrophy

Acute Brachial Plexus Neuritis

Immune Brachial Plexus Neuropathy

Mononeuritis Multiplex With Brachial Predilection

Parsonage-Turner Syndrome

Lesion Of Sciatic Nerve

Nerve Lesion Sciatic

Sciatic Neuropathy

Mononeuritis Of Upper Limb And Mononeuritis Multiplex
Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Osteogenic Sarcoma

Osteosarcoma

OSRC

Osteosarcoma, Somatic

Neoplasms, Bone Tissue

Bone Tissue Neoplasm

Osteoid Sarcoma

Skeletal Sarcoma

Osteosarcoma Of Bone

Bone Sarcoma

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type

Hsd10 Disease, Atypical Type

X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome

Mrxs10

Mental Retardation, X-Linked, Syndromic 10

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

Cauda Equina Syndrome

Cauda Equina

Polyradiculopathy

Charcot-Marie-Tooth Disease, Type 4b3

Charcot-Marie-Tooth Disease Type 4b3

CMT4B3

Charcot-Marie-Tooth Disease With Focally Folded Myelin

Charcot-Marie-Tooth Disease 4b3

Charcot-Marie-Tooth Neuropathy Type 4b3

Cortical Dysplasia, Complex, With Other Brain Malformations 6

Complex Cortical Dysplasia With Other Brain Malformations 6

CDCBM6

Cdcbm56

Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 6

Neurilemmoma

Schwannoma

Benign Schwannoma

Neurilemoma

Peripheral Fibroblastoma

Psammomatous Schwannoma

Neurolemmoma

Schwannomas

Potocki-Lupski Syndrome

PTLS

Chromosome 17p11.2 Duplication Syndrome

17p11.2 Microduplication Syndrome

Duplication 17p11.2 Syndrome

Trisomy 17p11.2

Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))

17p11.2 Duplication Syndrome

Dup(17)(P11.2p11.2)

Pls

Chromosome 17, Trisomy 17p11 2

Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating

Episodic Ataxia

Isaacs Syndrome

Neuromyotonia

Isaacs' Syndrome

Acquired Neuromyotonia

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Ea Syndrome

Episodic Ataxia Syndrome

Isaac Syndrome

Isaac'S-Merten'S Syndrome

Isaac-Mertens Syndrome

Peripheral Nerve Hyperexcitability

Ea

Peripheral Nerve Hyperexcitability Syndrome

Ataxia, Episodic

Isaacs Neuromyotonia

Continuous Muscle Fibre Activity

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PMP22 VGNC VGNC:76194
Bos taurus PMP22 VGNC VGNC:33074
Rattus norvegicus PMP22 RGD RGD:3359
Mus musculus PMP22 MGD MGI:97631
Felis catus PMP22 VGNC VGNC:99321
Canis familiaris PMP22 VGNC VGNC:44735