DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×

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:

rs749030456

rs749030456

TSC1

1.000

0.080

9

132928809

missense variant

G/A

snv

1.6E-05

7.0E-06

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.800

1.000

2017

2017

dbSNP:

rs1060505021

rs1060505021

TSC1

1.000

0.080

9

132921872

missense variant

G/A

snv

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

1.000

2017

2017

dbSNP:

rs118203427

rs118203427

TSC1

0.882

0.200

9

132921418

stop gained

G/A

snv

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

dbSNP:

rs118203542

rs118203542

TSC1

0.851

0.200

9

132906053

stop gained

G/A

snv

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

dbSNP:

rs118203631

rs118203631

TSC1

0.851

0.200

9

132903785

stop gained

G/A

snv

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700

dbSNP:

rs1564488264

rs1564488264

TSC1

0.882

0.200

9

132911110

frameshift variant

T/-

del

CUI:	C1846385
Disease:	FOCAL CORTICAL DYSPLASIA OF TAYLOR

FOCAL CORTICAL DYSPLASIA OF TAYLOR

0.700