DisGeNET - a database of gene-disease associations

MICU1, mitochondrial calcium uptake 1, 10367

N. diseases: 76; N. variants: 5

Source: ALL

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1135401814

rs1135401814

1.000

10

72423263

stop gained

G/A

snv

CUI:	C3810285
Disease:	MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

0.700

dbSNP:

rs369915689

rs369915689

1.000

10

72477173

splice donor variant

C/T

snv

5.5E-05

2.1E-05

CUI:	C3810285
Disease:	MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

0.700

dbSNP:

rs749124658

rs749124658

1.000

10

72566754

frameshift variant

C/-

delins

1.6E-05

4.9E-05

CUI:	C3810285
Disease:	MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

0.700

dbSNP:

rs754639936

rs754639936

1.000

10

72408038

splice acceptor variant

C/G;T

snv

5.2E-05

CUI:	C3810285
Disease:	MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

0.700

dbSNP:

rs777327250

rs777327250

1.000

10

72508260

stop gained

G/A

snv

2.0E-05

1.4E-05

CUI:	C3810285
Disease:	MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

MYOPATHY WITH EXTRAPYRAMIDAL SIGNS

0.700