DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: ZIMMERMANN-LABAND SYNDROME 1 ×

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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:

rs727502819

rs727502819

KCNH1

0.925

0.280

1

210804149

missense variant

T/C

snv

CUI:	C4551773
Disease:	ZIMMERMANN-LABAND SYNDROME 1

ZIMMERMANN-LABAND SYNDROME 1

0.800

dbSNP:

rs730882172

rs730882172

KCNH1

1.000

0.120

1

210920047

missense variant

G/T

snv

CUI:	C4551773
Disease:	ZIMMERMANN-LABAND SYNDROME 1

ZIMMERMANN-LABAND SYNDROME 1

0.800

dbSNP:

rs730882173

rs730882173

KCNH1

1.000

0.120

1

210919955

missense variant

C/G

snv

CUI:	C4551773
Disease:	ZIMMERMANN-LABAND SYNDROME 1

ZIMMERMANN-LABAND SYNDROME 1

0.800

dbSNP:

rs730882174

rs730882174

KCNH1

1.000

0.120

1

210919979

missense variant

C/T

snv

CUI:	C4551773
Disease:	ZIMMERMANN-LABAND SYNDROME 1

ZIMMERMANN-LABAND SYNDROME 1

0.800

dbSNP:

rs730882175

rs730882175

KCNH1

1.000

0.120

1

210804143

missense variant

C/T

snv

CUI:	C4551773
Disease:	ZIMMERMANN-LABAND SYNDROME 1

ZIMMERMANN-LABAND SYNDROME 1

0.800

dbSNP:

rs730882176

rs730882176

KCNH1

1.000

0.120

1

210919967

missense variant

G/C

snv

CUI:	C4551773
Disease:	ZIMMERMANN-LABAND SYNDROME 1

ZIMMERMANN-LABAND SYNDROME 1

0.800