DisGeNET - a database of gene-disease associations

SURF1, SURF1 cytochrome c oxidase assembly factor, 6834

N. diseases: 150; N. variants: 29

Disease: SURF1-related Charcot-Marie-Tooth disease type 4 ×

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:

rs782190413

0.925

0.120

133352708

missense variant

G/A

snv

1.2E-05

3.5E-05

CUI:	C4225246
Disease:	SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4

0.800

1.000

2013

dbSNP:

rs782316919

0.827

0.160

133351970

frameshift variant

AG/-

delins

8.4E-05

CUI:	C4225246
Disease:	SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4

0.700

dbSNP:

rs782726390

1.000

133354959

splice acceptor variant

T/C

snv

8.0E-06

CUI:	C4225246
Disease:	SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4

0.700

dbSNP:

rs863224228

0.882

0.120

133354661

frameshift variant

GGCTGGCAGA/AT

delins

CUI:	C4225246
Disease:	SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4

0.700

dbSNP:

rs864309500

1.000

133352094

frameshift variant

AG/-

delins

CUI:	C4225246
Disease:	SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4

0.700