DisGeNET - a database of gene-disease associations

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1, C1858517

Variant: rs797044802 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs797044802

IGHMBP2

0.700

CausalMutation

CLINVAR

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

27450922

2016

dbSNP:

rs797044802

IGHMBP2

0.700

CausalMutation

CLINVAR

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

25568292

2015

dbSNP:

rs797044802

IGHMBP2

0.700

CausalMutation

CLINVAR

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

25439726

2014

dbSNP:

rs797044802

IGHMBP2

0.700

CausalMutation

CLINVAR

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

14681881

2003