DisGeNET - a database of gene-disease associations

MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS, C3278404

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:

rs372487178

rs372487178

B3GAT3

2

0.925

0.040

11

62616748

missense variant

C/T

snv

2.1E-05

0.800

1.000

2011

2015

dbSNP:

rs387906937

rs387906937

B3GAT3

2

0.925

0.160

11

62616585

missense variant

C/G;T

snv

4.0E-06; 8.0E-06

0.800

1.000

2011

2015

dbSNP:

rs879255269

rs879255269

B3GAT3

2

1.000

11

62617186

missense variant

G/A

snv

0.700

1.000

2011

2015

dbSNP:

rs28937869

rs28937869

B4GALT7

4

0.851

0.200

5

177608994

missense variant

C/T

snv

4.8E-05

9.1E-05

0.700

dbSNP:

rs535206047

rs535206047

B3GAT3

1

1.000

11

62620579

stop gained

G/A

snv

1.2E-05

4.2E-05

0.700