常染色体显性腓骨肌萎缩症2型

Autosomal dominant Charcot-Marie-Tooth disease type 2

ORPHA:64746疾病组

别名

常染色体显性遗传性轴索型性Charcot-Marie-Tooth病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因	名称	来源条目
AARS1	alanyl-tRNA synthetase 1	ORPHA:228174
ATP1A1	ATPase Na+/K+ transporting subunit alpha 1	ORPHA:521414
DCAF8	DDB1 and CUL4 associated factor 8	ORPHA:401964
DGAT2	diacylglycerol O-acyltransferase 2	ORPHA:487814
DHTKD1	dehydrogenase E1 and transketolase domain containing 1	ORPHA:329258
DNM2	dynamin 2	ORPHA:228179
DYNC1H1	dynein cytoplasmic 1 heavy chain 1	ORPHA:284232
GARS1	glycyl-tRNA synthetase 1	ORPHA:99938
GDAP1	ganglioside induced differentiation associated protein 1	ORPHA:101097
HARS1	histidyl-tRNA synthetase 1	ORPHA:488333
HSPB1	heat shock protein family B (small) member 1	ORPHA:99940
HSPB8	heat shock protein family B (small) member 8	ORPHA:99945
IGHMBP2	immunoglobulin mu DNA binding protein 2	ORPHA:443073
KIF1B	kinesin family member 1B	ORPHA:99946
KIF5A	kinesin family member 5A	ORPHA:324611
LMNA	lamin A/C	ORPHA:98856
MARS1	methionyl-tRNA synthetase 1	ORPHA:397735
MFN2	mitofusin 2	ORPHA:99947
MME	membrane metalloendopeptidase	ORPHA:495274
MORC2	MORC family CW-type zinc finger 2	ORPHA:466768
MPZ	myelin protein zero	ORPHA:99942
NAGLU	N-acetyl-alpha-glucosaminidase	ORPHA:447964
NEFL	neurofilament light chain	ORPHA:99939
PNKP	polynucleotide kinase 3'-phosphatase	ORPHA:101101
RAB7A	RAB7A, member RAS oncogene family	ORPHA:99936
SPG11	SPG11 vesicle trafficking associated, spatacsin	ORPHA:466775
TFG	trafficking from ER to golgi regulator	ORPHA:435819
TRIM2	tripartite motif containing 2	ORPHA:397968
TRPV4	transient receptor potential cation channel subfamily V member 4	ORPHA:99937
VCP	valosin containing protein	ORPHA:435387

发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号