DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Nail abnormality ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	57465
Gene Symbol:	TBC1D24

TBC1D24

TBC1 domain family member 24

0.530

0.808

1.3E-08

CUI:	C0853087
Disease:	Nail abnormality

Nail abnormality

phenotype

0.100

None

1.000

2014

2014

Entrez Id:	101929328
Gene Symbol:	KCNMA1-AS1

KCNMA1-AS1

KCNMA1 antisense RNA 1

0.705

0.654

CUI:	C0853087
Disease:	Nail abnormality

Nail abnormality

phenotype

0.100

None

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

pogo transposable element derived with ZNF domain

0.599

0.577

1.00

CUI:	C0853087
Disease:	Nail abnormality

Nail abnormality

phenotype

0.100

None

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

SET binding protein 1

0.503

0.808

1.00

CUI:	C0853087
Disease:	Nail abnormality

Nail abnormality

phenotype

0.100

None

Entrez Id:	3778
Gene Symbol:	KCNMA1

KCNMA1

potassium calcium-activated channel subfamily M alpha 1

0.518

0.846

1.00

CUI:	C0853087
Disease:	Nail abnormality

Nail abnormality

phenotype

0.100

None