DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Cortical Dysplasia ×

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:

rs118203478

rs118203478

TSC1

0.882

0.200

9

132911492

frameshift variant

-/A;AA

delins

CUI:	C0431380
Disease:	Cortical Dysplasia

Cortical Dysplasia

0.700

dbSNP:

rs1553511224

rs1553511224

TBR1

0.882

0.080

2

161423825

frameshift variant

-/C

delins

CUI:	C0431380
Disease:	Cortical Dysplasia

Cortical Dysplasia

0.700

dbSNP:

rs587776625

rs587776625

ADGRG1

0.851

0.080

16

57654103

frameshift variant

CAGGACC/-

delins

CUI:	C0431380
Disease:	Cortical Dysplasia

Cortical Dysplasia

0.700

dbSNP:

rs730882220

rs730882220

FAM20C

1.000

0.080

7

256001

missense variant

C/T

snv

7.1E-06

CUI:	C0431380
Disease:	Cortical Dysplasia

Cortical Dysplasia

0.700

dbSNP:

rs869312693

rs869312693

DYNC1H1

0.925

0.080

14

102034135

missense variant

C/T

snv

CUI:	C0431380
Disease:	Cortical Dysplasia

Cortical Dysplasia

0.700