DisGeNET - a database of gene-disease associations

Abnormality of temperature regulation, C1832160

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1553920379

rs1553920379

PPP3CA

27

0.776

0.160

4

101032294

frameshift variant

-/AGTA

delins

0.700

dbSNP:

rs1554317002

rs1554317002

CDK13 ; LOC112267983

45

0.724

0.440

7

39950821

frameshift variant

C/-

delins

0.700

dbSNP:

rs397507478

rs397507478

BRAF

12

0.790

0.440

7

140777014

missense variant

C/A

snv

0.700