DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Diffuse Intrinsic Pontine Glioma ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs149364097

rs149364097

BRIP1

0.925

0.120

17

61801348

missense variant

C/A;G;T

snv

1.6E-05

CUI:	C2986658
Disease:	Diffuse Intrinsic Pontine Glioma

Diffuse Intrinsic Pontine Glioma

0.700

dbSNP:

rs555607708

rs555607708

CHEK2

0.667

0.360

22

28695869

frameshift variant

G/-

del

2.0E-03

1.8E-03

CUI:	C2986658
Disease:	Diffuse Intrinsic Pontine Glioma

Diffuse Intrinsic Pontine Glioma

0.700

dbSNP:

rs80359454

rs80359454

BRCA2

0.882

0.200

13

32338828

frameshift variant

AAAG/-

delins

CUI:	C2986658
Disease:	Diffuse Intrinsic Pontine Glioma

Diffuse Intrinsic Pontine Glioma

0.700