DisGeNET - a database of gene-disease associations

SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16

Disease: Renal Cell Dysplasia ×

Source: ALL

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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:	C0235831
Disease:	Renal Cell Dysplasia

Renal Cell Dysplasia

0.110

GeneticVariation

disease

BEFREE

Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.

2000

CUI:	C0235831
Disease:	Renal Cell Dysplasia

Renal Cell Dysplasia

0.110

Biomarker

disease

HPO