DisGeNET - a database of gene-disease associations

STANKIEWICZ-ISIDOR SYNDROME, C4479599

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:

rs1114167442

rs1114167442

PSMD12

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1114167443

rs1114167443

PSMD12

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1114167444

rs1114167444

PSMD12

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs895130488

rs895130488

PSMD12

A

0.700

CausalMutation

CLINVAR