DisGeNET - a database of gene-disease associations

Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility, C1970027

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:

rs387907198

rs387907198

IRX5

1

1.000

0.280

16

54932696

missense variant

G/C

snv

0.800

1.000

2012

2012

dbSNP:

rs786200931

rs786200931

IRX5

1

1.000

0.280

16

54932746

missense variant

C/A

snv

0.800

1.000

2012

2012

dbSNP:

rs1057518725

rs1057518725

IRX5

1

1.000

0.280

16

54933783

frameshift variant

TAAAGAC/GT

delins

0.700