DisGeNET - a database of gene-disease associations

Multiple congenital anomalies, C0000772

Variant: rs1555899379 ×

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:

rs1555899379

SON

0.700

CausalMutation

CLINVAR

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

25590979

2015

dbSNP:

rs1555899379

SON

0.700

CausalMutation

CLINVAR

[Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

3054499

1988

dbSNP:

rs1555899379

SON

0.700

CausalMutation

CLINVAR

[Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

1944255

1991