DisGeNET - a database of gene-disease associations

GTF2E2, general transcription factor IIE subunit 2, 2961

N. diseases: 107; N. variants: 3

Disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4310785
Disease:	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE

TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE

0.700

GeneticVariation

disease

UNIPROT

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

26996949

2016

CUI:	C4310785
Disease:	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE

TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE

0.700

Biomarker

disease

GENOMICS_ENGLAND

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

26996949

2016

CUI:	C4310785
Disease:	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE

TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE

0.700

CausalMutation

disease

CLINVAR

CUI:	C4310785
Disease:	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE

TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE

0.700

Biomarker

disease

CTD_human