DisGeNET - a database of gene-disease associations

FAM20C, FAM20C golgi associated secretory pathway kinase, 56975

N. diseases: 116; N. variants: 16

Disease: RAINE SYNDROME ×

Variant: rs796051849 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs796051849

rs796051849

Entrez Id:	56975
Gene Symbol:	FAM20C

FAM20C

CUI:	C1850106
Disease:

RAINE SYNDROME

G

0.800

CausalMutation

CLINVAR

dbSNP:

rs796051849

rs796051849

Entrez Id:	56975
Gene Symbol:	FAM20C

FAM20C

CUI:	C1850106
Disease:

RAINE SYNDROME

0.800

GeneticVariation

UNIPROT