DisGeNET - a database of gene-disease associations

Mandibulofacial Dysostosis, C0242387

Variant: rs587776582 ×

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:

rs587776582

TCOF1

0.700

CausalMutation

CLINVAR

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

22317976

2012

dbSNP:

rs587776582

TCOF1

0.700

CausalMutation

CLINVAR

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.

21951868

2011

dbSNP:

rs587776582

TCOF1

0.700

CausalMutation

CLINVAR

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

20003452

2009

dbSNP:

rs587776582

TCOF1

0.700

CausalMutation

CLINVAR

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

11013442

2000

dbSNP:

rs587776582

TCOF1

0.700

CausalMutation

CLINVAR

The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

9042910

1997