DisGeNET - a database of gene-disease associations

Focal T2 hyperintense basal ganglia lesion, C4024926

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:

rs1064795559

rs1064795559

MORC2

29

0.752

0.320

22

30946373

missense variant

G/A

snv

0.700

dbSNP:

rs397514641

rs397514641

NF1

11

0.827

0.320

17

31169985

stop gained

C/T

snv

4.0E-06

1.4E-05

0.700

dbSNP:

rs756421370

rs756421370

MECR

8

0.807

0.120

1

29200513

splice donor variant

-/A

delins

1.4E-04

6.3E-05

0.700