DisGeNET - a database of gene-disease associations

APH1A, aph-1 homolog A, gamma-secretase subunit, 51107

N. diseases: 45; N. variants: 4

Disease: Conventional (Clear Cell) Renal Cell Carcinoma ×

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:	C0279702
Disease:	Conventional (Clear Cell) Renal Cell Carcinoma

Conventional (Clear Cell) Renal Cell Carcinoma

0.020

GeneticVariation

disease

BEFREE

Xp11 translocation renal cell carcinoma (RCC) with SFPQ/PSF-TFE3 gene fusion is a rare epithelial tumor.

28315422

2017

CUI:	C0279702
Disease:	Conventional (Clear Cell) Renal Cell Carcinoma

Conventional (Clear Cell) Renal Cell Carcinoma

0.020

Biomarker

disease

BEFREE

Secondary PSF/TFE3-associated renal cell carcinoma in a child treated for genitourinary rhabdomyosarcoma.

21504709

2011