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:

rs587777417

rs587777417

MTFMT

1.000

15

65029461

frameshift variant

AGCACCCG/-

delins

8.2E-06

CUI:	C3554182
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

0.700

dbSNP:

rs777725264

rs777725264

MTFMT

1.000

15

65027028

frameshift variant

CTTT/-

delins

1.6E-05; 4.0E-06

7.0E-06

CUI:	C3554182
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

0.700

dbSNP:

rs863224897

rs863224897

MTFMT

1.000

15

65003116

frameshift variant

A/-

delins

CUI:	C3554182
Disease:	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

0.700