DisGeNET - a database of gene-disease associations

Source: CLINVAR

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:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0085605
Disease:	Liver Failure

Liver Failure

0.710

1.000

2016

2016

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0268307
Disease:	Conjugated hyperbilirubinemia

Conjugated hyperbilirubinemia

0.710

1.000

2016

2016

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0023890
Disease:	Liver Cirrhosis

Liver Cirrhosis

0.700

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C3711385
Disease:	Deoxyguanosine Kinase Deficiency

Deoxyguanosine Kinase Deficiency

0.700

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0005779
Disease:	Blood Coagulation Disorders

Blood Coagulation Disorders

0.700

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C2315100
Disease:	Pediatric failure to thrive

Pediatric failure to thrive

0.700

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C4014650
Disease:	Abnormal mitochondrial morphology

Abnormal mitochondrial morphology

0.700

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0003962
Disease:	Ascites

Ascites

0.700

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0342782
Disease:	Depletion of mitochondrial DNA

Depletion of mitochondrial DNA

0.700

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0239981
Disease:	Hypoalbuminemia

Hypoalbuminemia

0.700

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0008370
Disease:	Cholestasis

Cholestasis

0.700

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C2242708
Disease:	Hypertransaminasaemia

Hypertransaminasaemia

0.700

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C0015934
Disease:	Fetal Growth Retardation

Fetal Growth Retardation

0.700

dbSNP:

rs757075712

rs757075712

TFAM

0.763

0.200

10

58390856

missense variant

C/T

snv

1.6E-05

1.4E-05

CUI:	C1855652
Disease:	Fetus Small for Gestational Age

Fetus Small for Gestational Age

0.700