DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Slender finger ×

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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:

rs1555649483

rs1555649483

BPTF

0.851

0.200

17

67909751

splice donor variant

GAAGGACCAAGG/-

del

CUI:	C1857482
Disease:	Slender finger

Slender finger

0.700

1.000

2017

2017

dbSNP:

rs113871094

rs113871094

FBN1

0.683

0.320

15

48465820

stop gained

G/A

snv

CUI:	C1857482
Disease:	Slender finger

Slender finger

0.700

dbSNP:

rs75184679

rs75184679

RNASEH2B

0.776

0.360

13

50945445

missense variant

G/A

snv

1.4E-03

1.4E-03

CUI:	C1857482
Disease:	Slender finger

Slender finger

0.700

dbSNP:

rs875989803

rs875989803

DDX3X

0.827

0.200

X

41343249

stop gained

G/T

snv

CUI:	C1857482
Disease:	Slender finger

Slender finger

0.700

dbSNP:

rs886040971

rs886040971

TRPS1

0.683

0.280

8

115604339

stop gained

G/A;T

snv

CUI:	C1857482
Disease:	Slender finger

Slender finger

0.700