DisGeNET - a database of gene-disease associations

Overgrowth, C1849265

Variant: rs1247427997 ×

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:

rs1247427997

TMCO1

0.700

CausalMutation

CLINVAR

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

24424126

2014

dbSNP:

rs1247427997

TMCO1

0.700

CausalMutation

CLINVAR

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

24194475

2014

dbSNP:

rs1247427997

TMCO1

0.700

CausalMutation

CLINVAR

Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

23320496

2013

dbSNP:

rs1247427997

TMCO1

0.700

CausalMutation

CLINVAR

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

20018682

2010