DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Dilated ventricles (finding) ×

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:

rs1556425596

rs1556425596

COL6A1

0.752

0.240

21

45989967

intron variant

C/T

snv

CUI:	C3278923
Disease:	Dilated ventricles (finding)

Dilated ventricles (finding)

0.700

dbSNP:

rs1569355102

rs1569355102

DYRK1A

0.695

0.360

21

37472869

frameshift variant

TAAC/-

delins

CUI:	C3278923
Disease:	Dilated ventricles (finding)

Dilated ventricles (finding)

0.700

dbSNP:

rs431905509

rs431905509

SLC25A1

0.807

0.280

22

19176222

missense variant

G/A;C

snv

2.0E-05

CUI:	C3278923
Disease:	Dilated ventricles (finding)

Dilated ventricles (finding)

0.700

dbSNP:

rs752298579

rs752298579

TANGO2

0.701

0.480

22

20061538

missense variant

G/A

snv

1.4E-04

7.0E-06

CUI:	C3278923
Disease:	Dilated ventricles (finding)

Dilated ventricles (finding)

0.700

dbSNP:

rs1057518921

rs1057518921

MED12

1.000

X

71132465

missense variant

G/A

snv

CUI:	C3278923
Disease:	Dilated ventricles (finding)

Dilated ventricles (finding)

0.700

dbSNP:

rs1569234334

rs1569234334

KIF4A

0.851

0.200

X

70329420

missense variant

G/T

snv

CUI:	C3278923
Disease:	Dilated ventricles (finding)

Dilated ventricles (finding)

0.700

dbSNP:

rs397515415

rs397515415

HDAC8

0.807

0.240

X

72495216

stop gained

G/A;T

snv

CUI:	C3278923
Disease:	Dilated ventricles (finding)

Dilated ventricles (finding)

0.700