1. Gene
  2. LITAF - lipopolysaccharide induced TNF factor Gene

LITAF - lipopolysaccharide induced TNF factor Gene

中文名称:脂多糖诱导的肿瘤坏死因子

种属: Homo sapiens

同用名: PIG7; SIMPLE; TP53I7

基因 ID: 9516 | 基因类型: protein coding

关于 LITAF

Cytogenetic location: 16p13.13 Genomic coordinates (GRCh38): 16:11,547,722-11,640,317 (from NCBI)

This gene has 19 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in appendix (RPKM 52.8), thyroid (RPKM 42.1) and 25 other tissues.

功能概要

脂多糖是单核细胞和巨噬细胞的有效刺激物,可引起肿瘤坏死因子-α (TNF-α) 和其他炎症介质的分泌。该基因编码脂多糖诱导的 TNF-α 因子,它是一种 DNA 结合蛋白,可通过直接结合 TNF-α 基因的启动子区域来介导 TNF-α 的表达。该基因的转录由肿瘤抑制因子 p53 诱导,并与 p53 诱导的细胞凋亡途径有关。该基因的突变会导致 Charcot-Marie-Tooth 病 1C 型 (CMT1C) ,并可能参与乳房外佩吉特病 (EMPD) 的致癌作用。已发现该基因的多个选择性剪接转录物变体。[RefSeq 提供,2014 年 12 月]

Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and Other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]

LITAF 基因产物(3)

mRNA Protein Name
NM_001136472.2 NP_001129944.1 lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 1
NM_001136473.1 NP_001129945.1 lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 2
NM_004862.4 NP_004853.2 lipopolysaccharide-induced tumor necrosis factor-alpha factor 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 DNA-binding transcription activator activity, RNA polymerase II-specific IMP
IMP: 通过突变表型推断
21217782 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
12655064 GOA
enables WW domain binding IPI
IPI: 通过物理相互作用推断
15064722 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
27927196 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15064722 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
27582497 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
21217782 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
15064722 GOA
located in Golgi apparatus IMP
IMP: 通过突变表型推断
16118794 GOA
located in cytoplasmic side of early endosome membrane IDA
IDA: 通过直接分析推断
27582497 GOA
located in cytoplasmic side of late endosome membrane IDA
IDA: 通过直接分析推断
27582497 GOA
located in cytoplasmic side of lysosomal membrane IDA
IDA: 通过直接分析推断
27582497 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: 通过直接分析推断
27582497 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
11274176 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
16118794 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
蛋白主名 其他名称

lipopolysaccharide-induced tumor necrosis factor-alpha factor

LPS-induced TNF-alpha factor

LITAF 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
种属内
LITAF Q99732 UBQLN1 Homo sapiens Q9UMX0-2
Y2H Array
25910212
种属内
LITAF Q99732 UBQLN1 Homo sapiens Q9UMX0-2
Y2H Array
25416956
种属内
LITAF Q99732 UBQLN1 Homo sapiens Q9UMX0-2
Y2H Prey Pooling
25416956
种属内
LITAF Q99732 UBQLN1 Homo sapiens Q9UMX0-2
Validated Y2H
25910212
种属内
LITAF Q99732 UBQLN1 Homo sapiens Q9UMX0-2
Y2H Bait-Prey Pool
25910212
种属内
LITAF Q99732 KCNIP4 Homo sapiens Q6PIL6
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 KCNIP4 Homo sapiens Q6PIL6
Y2H Array
32296183
种属内
LITAF Q99732 EPN1 Homo sapiens Q9Y6I3-3
Y2H Array
32296183
种属内
LITAF Q99732 EPN1 Homo sapiens Q9Y6I3-3
Validated Y2H
32296183
种属内
LITAF Q99732 EPN1 Homo sapiens Q9Y6I3-3
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 WWOX Homo sapiens Q9NZC7-5
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 WWOX Homo sapiens Q9NZC7-5
Validated Y2H
32296183
种属内
LITAF Q99732 WWOX Homo sapiens Q9NZC7-5
Y2H Array
32296183
种属内
LITAF Q99732 GGA3 Homo sapiens Q9NZ52-2
Validated Y2H
32296183
种属内
LITAF Q99732 GGA3 Homo sapiens Q9NZ52-2
Y2H Array
32296183
种属内
LITAF Q99732 GGA3 Homo sapiens Q9NZ52-2
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 TOM1 Homo sapiens O60784-2
Y2H Array
32296183
种属内
LITAF Q99732 TOM1 Homo sapiens O60784-2
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 EPN2 Homo sapiens O95208-2
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 EPN2 Homo sapiens O95208-2
Y2H Array
32296183
种属内
LITAF Q99732 EPN3 Homo sapiens I6L9I8
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 EPN3 Homo sapiens I6L9I8
Y2H Array
32296183
种属内
LITAF Q99732 REEP6 Homo sapiens Q96HR9-2
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 REEP6 Homo sapiens Q96HR9-2
Y2H Array
32296183
种属内
LITAF Q99732 CDCA4 Homo sapiens Q9BXL8
Y2H Pooling
32814053
种属内
LITAF Q99732 CDCA4 Homo sapiens Q9BXL8
Validated Y2H
32814053
种属内
LITAF Q99732 CDCA4 Homo sapiens Q9BXL8
Y2H Array
32814053
种属内
LITAF Q99732 KCNIP1 Homo sapiens Q9NZI2-2
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 KCNIP1 Homo sapiens Q9NZI2-2
Validated Y2H
32296183
种属内
LITAF Q99732 KCNIP1 Homo sapiens Q9NZI2-2
Y2H Array
32296183
种属内
LITAF Q99732 TNIP3 Homo sapiens Q96KP6
Y2H Array
32296183
种属内
LITAF Q99732 TNIP3 Homo sapiens Q96KP6
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 RASSF3 Homo sapiens Q86WH2
Anti Tag CoIP
33961781
种属内
LITAF Q99732 RASSF3 Homo sapiens Q86WH2
Y2H Array
32296183
种属内
LITAF Q99732 RASSF3 Homo sapiens Q86WH2
Anti Tag CoIP
28514442
种属内
LITAF Q99732 RASSF3 Homo sapiens Q86WH2
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 TSG101 Homo sapiens Q99816
Anti Tag CoIP
16118794
种属内
LITAF Q99732 TSG101 Homo sapiens Q99816
Anti Bait CoIP
16118794
种属内
LITAF Q99732 UBA52 Homo sapiens P62987
Y2H Array
32296183
种属内
LITAF Q99732 UBA52 Homo sapiens P62987
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 RPS27A Homo sapiens P62979
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 RPS27A Homo sapiens P62979
Y2H Array
32296183
种属内
LITAF Q99732 TNIP1 Homo sapiens Q15025
Y2H Array
32296183
种属内
LITAF Q99732 TNIP1 Homo sapiens Q15025
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 BASP1 Homo sapiens P80723
Y2H Pooling
32814053
种属内
LITAF Q99732 BASP1 Homo sapiens P80723
Validated Y2H
32814053
种属内
LITAF Q99732 BASP1 Homo sapiens P80723
Y2H Array
32814053
种属内
LITAF Q99732 STAM2 Homo sapiens O75886
Validated Y2H
25910212
种属内
LITAF Q99732 STAM2 Homo sapiens O75886
Y2H Bait-Prey Pool
25910212
种属内
LITAF Q99732 STAM2 Homo sapiens O75886
Y2H Array
25910212
种属内
LITAF Q99732 STAM2 Homo sapiens O75886
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 STAM2 Homo sapiens O75886
Y2H Array
32296183
种属内
LITAF Q99732 CAPN10 Homo sapiens Q9HC96
Y2H Array
32814053
种属内
LITAF Q99732 CAPN10 Homo sapiens Q9HC96
Validated Y2H
32814053
种属内
LITAF Q99732 CAPN10 Homo sapiens Q9HC96
Y2H Pooling
32814053
种属内
LITAF Q99732 DAPP1 Homo sapiens Q9UN19
Y2H Pooling
32814053
种属内
LITAF Q99732 DAPP1 Homo sapiens Q9UN19
Validated Y2H
32814053
种属内
LITAF Q99732 DAPP1 Homo sapiens Q9UN19
Y2H Array
32814053
种属内
LITAF Q99732 WWOX Homo sapiens Q9NZC7
IF
15064722
种属内
LITAF Q99732 WWOX Homo sapiens Q9NZC7
Far-WB
15064722
种属内
LITAF Q99732 WWOX Homo sapiens Q9NZC7
Pull Down
15064722
种属内
LITAF Q99732 HIP1 Homo sapiens O00291
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 HIP1 Homo sapiens O00291
Y2H Array
32296183
种属内
LITAF Q99732 N4BP1 Homo sapiens O75113
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 N4BP1 Homo sapiens O75113
Y2H Array
32296183
种属内
LITAF Q99732 TAX1BP1 Homo sapiens Q86VP1
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 TAX1BP1 Homo sapiens Q86VP1
Y2H Array
32296183
种属内
LITAF Q99732 DAZAP2 Homo sapiens Q15038
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 DAZAP2 Homo sapiens Q15038
Y2H Array
32296183
种属内
LITAF Q99732 NEDD4 Homo sapiens P46934
Anti Tag CoIP
33961781
种属内
LITAF Q99732 NEDD4 Homo sapiens P46934
Anti Tag CoIP
16118794
种属内
LITAF Q99732 NEDD4 Homo sapiens P46934
Anti Bait CoIP
16118794
种属内
LITAF Q99732 NEDD4 Homo sapiens P46934
Pull Down
27927196
种属内
LITAF Q99732 NEDD4 Homo sapiens P46934
NMR
27927196
种属内
LITAF Q99732 CALCOCO2 Homo sapiens Q13137
Validated Y2H
25910212
种属内
LITAF Q99732 CALCOCO2 Homo sapiens Q13137
Y2H Prey Pooling
25416956
种属内
LITAF Q99732 CALCOCO2 Homo sapiens Q13137
Y2H Array
25910212
种属内
LITAF Q99732 CALCOCO2 Homo sapiens Q13137
Y2H Array
25416956
种属内
LITAF Q99732 CALCOCO2 Homo sapiens Q13137
Y2H Bait-Prey Pool
25910212
种属内
LITAF Q99732 HGS Homo sapiens O14964
Validated Y2H
25910212
种属内
LITAF Q99732 HGS Homo sapiens O14964
Y2H Prey Pooling
25416956
种属内
LITAF Q99732 HGS Homo sapiens O14964
Y2H Array
25910212
种属内
LITAF Q99732 HGS Homo sapiens O14964
Validated Y2H
25416956
种属内
LITAF Q99732 HGS Homo sapiens O14964
Y2H Bait-Prey Pool
25910212
种属内
LITAF Q99732 VSNL1 Homo sapiens P62760
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 VSNL1 Homo sapiens P62760
Y2H Array
32296183
种属内
LITAF Q99732 HPCAL4 Homo sapiens Q9UM19
Anti Tag CoIP
28514442
种属内
LITAF Q99732 HPCAL4 Homo sapiens Q9UM19
Validated Y2H
32296183
种属内
LITAF Q99732 HPCAL4 Homo sapiens Q9UM19
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 HPCAL4 Homo sapiens Q9UM19
Y2H Array
32296183
种属内
LITAF Q99732 HPCAL4 Homo sapiens Q9UM19
Anti Tag CoIP
33961781
种属内
LITAF Q99732 BAG3 Homo sapiens O95817
Y2H Array
25416956
种属内
LITAF Q99732 HPCAL1 Homo sapiens P37235
Y2H Array
32296183
种属内
LITAF Q99732 HPCAL1 Homo sapiens P37235
MAPPIT
32296183
种属内
LITAF Q99732 HPCAL1 Homo sapiens P37235
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 NCALD Homo sapiens P61601
Y2H Array
32296183
种属内
LITAF Q99732 NCALD Homo sapiens P61601
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 REEP6 Homo sapiens Q96HR9
Validated Y2H
25416956
种属内
LITAF Q99732 REEP6 Homo sapiens Q96HR9
Validated Y2H
25910212
种属内
LITAF Q99732 REEP6 Homo sapiens Q96HR9
Y2H Bait-Prey Pool
25910212
种属内
LITAF Q99732 REEP6 Homo sapiens Q96HR9
Y2H Array
25416956
种属内
LITAF Q99732 REEP6 Homo sapiens Q96HR9
Y2H Array
25910212
种属内
LITAF Q99732 RNF208 Homo sapiens Q9H0X6
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 RNF208 Homo sapiens Q9H0X6
Validated Y2H
32296183
种属内
LITAF Q99732 RNF208 Homo sapiens Q9H0X6
Y2H Array
32296183
种属内
LITAF Q99732 CBX1 Homo sapiens P83916
Validated Y2H
32814053
种属内
LITAF Q99732 CBX1 Homo sapiens P83916
Y2H Array
32814053
种属内
LITAF Q99732 CBX1 Homo sapiens P83916
Y2H Pooling
32814053
种属内
LITAF Q99732 OPTN Homo sapiens Q96CV9-2
Validated Y2H
25910212
种属内
LITAF Q99732 OPTN Homo sapiens Q96CV9-2
Y2H Bait-Prey Pool
25910212
种属内
LITAF Q99732 OPTN Homo sapiens Q96CV9-2
Y2H Array
25910212
种属内
LITAF Q99732 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
种属内
LITAF Q99732 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
种属内
LITAF Q99732 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
种属内
LITAF Q99732 ARID5A Homo sapiens Q03989
Y2H Array
32296183
种属内
LITAF Q99732 ARID5A Homo sapiens Q03989
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, 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

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

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

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 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 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 2p

CMT2P

Charcot-Marie-Tooth Disease Axonal Type 2p

Charcot-Marie-Tooth Disease Type 2p

Charcot-Marie-Tooth Neuropathy, Type 2p

Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly

Cmt2g, Formerly

Charcot-Marie-Tooth Neuropathy Type 2p

Charcot-Marie-Toothe Disease, Axonal, Type 2p

Charcot-Marie-Tooth Disease 2p

Charcot-Marie-Tooth Disease, Axonal Type 2g

Charcot-Marie-Tooth Neuropathy Axonal Type 2p

Cmt2g

Charcot-Marie-Tooth Disease, Type 2p

Charcot-Marie-Tooth Disease, Axonal, Type 2g

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 1a

Charcot-Marie-Tooth Disease Type 1a

CMT1A

Charcot-Marie-Tooth Disease, Type Ia

Hmsn1a

Hereditary Motor And Sensory Neuropathy Ia

Hmsn Ia

Charcot-Marie-Tooth Neuropathy, Type 1a

Charcot-Marie-Tooth Disease, Type 1a

Charcot-Marie-Tooth Neuropathy Type 1a

Hereditary Motor And Sensory Neuropathy 1a

Microduplication 17p12

Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a

Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a

Cmt 1a

Charcot Marie Tooth Disease Type 1a

Hmsn 1a

Charcot-Marie-Tooth Disease 1a

Charcot-Marie-Tooth Disease Demyelinating Type 1a

Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy

Charcot-Marie-Tooth Disease, 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

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

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Sensory Peripheral Neuropathy

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies

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

Peroneal Neuropathy

Peroneal Neuropathies

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, 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 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

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

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

Polyneuropathy

Polyneuropathies

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

CMTX1

Cmtx

Charcot-Marie-Tooth Disease X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

X-Linked Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

Cmt1x

X-Linked Charcot-Marie-Tooth Disease Type 1

X-Linked Hereditary Motor And Sensory Neuropathy

Hereditary Motor And Sensory Neuropathy, X-Linked

Hmsn, X-Linked

Charcot-Marie-Tooth Neuropathy, X-Linked, 1

Cmt2, Formerly

Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy X-Linked 1

Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

Hereditary Motor And Sensory Neuropathy X-Linked

Hmsn X-Linked

Charcot-Marie-Tooth, X-Linked

Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

Charcot-Marie-Tooth Disease, X-Linked, 1

Charcot-Marie-Tooth Disease, 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

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

Neuronopathy, Distal Hereditary Motor, Type Iic

HMN2C

Hmn Iic

Dhmn2c

Distal Hereditary Motor Neuronopathy Type 2c

Distal Hereditary Motor Neuropathy Type Iic

Neuronopathy, Distal Hereditary Motor, Type 2c

Neuropathy, Distal Hereditary Motor, Type Iic

Neuronopathy, Distal Hereditary Motor, 2c

Dhmn Iic

Neuropathy, Motor, Distal, Hereditary, Type 2c

Charcot-Marie-Tooth Disease, Type 4b1

Charcot-Marie-Tooth Disease Type 4b1

CMT4B1

Cmt4b

Charcot-Marie-Tooth Neuropathy Type 4b1

Charcot-Marie-Tooth Disease Type 4b

Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1

Charcot-Marie-Tooth Neuropathy, Type 4b1

Charcot-Marie-Tooth Disease, Type 4b

Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1

Charcot-Marie-Tooth Disease 4b1

Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Charcot-Marie-Tooth Disease, 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, Dominant Intermediate B

CMTDIB

Charcot-Marie-Tooth Disease Dominant Intermediate B

Di-Cmtb

Cmtdi1

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m

Charcot-Marie-Tooth Neuropathy Dominant Intermediate B

CMT2M

Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B

Charcot-Marie-Tooth Disease, Axonal Type 2m

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B

Charcot-Marie-Tooth Disease 2m

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m

Charcot-Marie-Tooth Disease Axonal Type 2m

Charcot-Marie-Tooth Neuropathy Axonal Type 2m

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B

Charcot-Marie-Tooth Disease, Axonal, Type 2m

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

Charcot-Marie-Tooth Disease, Type 4d

Charcot-Marie-Tooth Disease Type 4d

CMT4D

Hmsnl

Hmsn4d

Charcot-Marie-Tooth Neuropathy Type 4d

Hereditary Motor And Sensory Neuropathy Lom Type

Hmsn-Lom

Neuropathy, Hereditary Motor And Sensory, Lom Type

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d

Charcot-Marie-Tooth Neuropathy, Type 4d

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d

Hmsn Lom Type

Hmsn, Lom Type

Hereditary Motor And Sensory Neuropathy, Lom Type

Charcot-Marie-Tooth Disease 4d

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d

Hereditary Motor And Sensory Neuropathy Ivd

Hmsn Ivd

Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease, Type 4h

Charcot-Marie-Tooth Disease Type 4h

CMT4H

Charcot-Marie-Tooth Neuropathy Type 4h

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h

Charcot-Marie-Tooth Neuropathy, Type 4h

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h

Charcot-Marie-Tooth Disease 4h

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h

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, 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

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

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

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

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

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2

Hsan2

HSAN2A

Morvan Disease

Hereditary Sensory And Autonomic Neuropathy Type Ii

Neurogenic Acroosteolysis

Hsan Iia

Hsn2a

Hsn Iia

Neuropathy, Progressive Sensory, Of Children

Neuropathy, Congenital Sensory

Neuropathy, Hereditary Sensory And Autonomic, Type Ii

Hereditary Sensory And Autonomic Neuropathy Type 2a

Hereditary Sensory And Autonomic Neuropathy Type Iia

Hsanii

Congenital Sensory Neuropathy

Hsan Type Ii

Morvan Syndrome

Neuropathy, Hereditary Sensory And Autonomic, Type 2a

Morvan'S Disease

Neuropathy, Hereditary Sensory, Type Iia

Acroosteolysis, Neurogenic

Acroosteolysis, Giaccai Type

Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

Hereditary Sensory Autonomic Neuropathy Type 2

Giaccai Type Acroosteolysis

Hereditary Sensory Neuropathy Type 2

Hereditary Sensory Radicular Neuropathy, Recessive Form

Hsan2b

Hsan2c

Hsan2d

Hsn Type Ii

Autosomal Recessive Sensory Radicular Neuropathy

Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

Morvan Fibrillary Chorea

Neuropathy, Hereditary Sensory And Autonomic, 2a

Acroosteolysis Giaccai Type

Hereditary Sensory Neuropathy Type Iia

Hereditary Sensory Radicular Neuropathy Autosomal Recessive

Progressive Sensory Neuropathy Of Children

Neuropathy Congenital Sensory

Charcot-Marie-Tooth Disease

Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

Hereditary Sensory Autonomic Neuropathy, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Sensory Neuropathy, Hereditary

Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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
Mus musculus LITAF MGD MGI:1929512
Felis catus LITAF VGNC VGNC:107759
Rattus norvegicus LITAF RGD RGD:69294
Bos taurus LITAF VGNC VGNC:30911