DisGeNET - a database of gene-disease associations

Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly, C1865267

Source: ALL

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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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1057519597

rs1057519597

YY1AP1

1

1.000

0.120

1

155659934

stop gained

A/C;T

snv

0.700

dbSNP:

rs1057519598

rs1057519598

YY1AP1

1

1.000

0.120

1

155659923

stop gained

C/A

snv

0.700

dbSNP:

rs1057519599

rs1057519599

YY1AP1

1

1.000

0.120

1

155676622

stop gained

G/A

snv

1.4E-05

0.700

dbSNP:

rs1558307853

rs1558307853

YY1AP1

1

1.000

0.120

1

155672537

non coding transcript exon variant

A/C

snv

0.700

dbSNP:

rs749232831

rs749232831

YY1AP1

1

1.000

0.120

1

155676562

stop gained

G/A;C

snv

4.0E-06; 8.0E-06

0.700

dbSNP:

rs759089960

rs759089960

YY1AP1

1

1.000

0.120

1

155660418

frameshift variant

CAGA/-

delins

8.0E-06

0.700

dbSNP:

rs199653824

rs199653824

YY1AP1

1

1.000

0.120

1

155672732

splice acceptor variant

C/T

snv

1.2E-05

0.700