DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hereditary Motor and Sensory-Neuropathy Type II ×

Variant: rs864309525 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs864309525

LMNA

CUI:	C0270914
Disease:	Hereditary Motor and Sensory-Neuropathy Type II

Hereditary Motor and Sensory-Neuropathy Type II

0.700

CausalMutation

CLINVAR

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

27876398

2017

dbSNP:

rs864309525

LMNA

CUI:	C0270914
Disease:	Hereditary Motor and Sensory-Neuropathy Type II

Hereditary Motor and Sensory-Neuropathy Type II

0.700

CausalMutation

CLINVAR

Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.

26098624

2015

dbSNP:

rs864309525

LMNA

CUI:	C0270914
Disease:	Hereditary Motor and Sensory-Neuropathy Type II

Hereditary Motor and Sensory-Neuropathy Type II

0.700

CausalMutation

CLINVAR

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.

22491857

2012