DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Tyrosinemia, Type I ×

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:

rs370686447

rs370686447

FAH

1.000

0.120

15

80168052

stop gained

G/A;T

snv

1.2E-05; 4.0E-06

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.700

dbSNP:

rs533540262

rs533540262

FAH

1.000

0.120

15

80172238

missense variant

C/A;T

snv

4.0E-06; 1.6E-05

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.700

dbSNP:

rs772895065

rs772895065

FAH

1.000

0.120

15

80153137

splice donor variant

T/A;C

snv

1.2E-05

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.700

dbSNP:

rs779642226

rs779642226

FAH

1.000

0.120

15

80162319

frameshift variant

T/-

del

1.4E-05

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.700

dbSNP:

rs886044640

rs886044640

FAH

1.000

0.120

15

80180126

stop gained

C/A

snv

7.0E-06

CUI:	C0268490
Disease:	Tyrosinemia, Type I

Tyrosinemia, Type I

0.700