DisGeNET - a database of gene-disease associations

rs1114167291, ANKRD11

N. diseases: 10

Source: ALL

Results per page

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Astigmatism

CUI:	C0004106
Disease:	Astigmatism

45

0.790

0.280

16

89281225

stop gained

C/A

snv

0.700

Congenital Epicanthus

CUI:	C0678230
Disease:	Congenital Epicanthus

30

0.790

0.280

16

89281225

stop gained

C/A

snv

0.700

Cryptorchidism

CUI:	C0010417
Disease:	Cryptorchidism

80

0.790

0.280

16

89281225

stop gained

C/A

snv

0.700

Esotropia

CUI:	C0014877
Disease:	Esotropia

39

0.790

0.280

16

89281225

stop gained

C/A

snv

0.700

Global developmental delay

CUI:	C0557874
Disease:	Global developmental delay

553

0.790

0.280

16

89281225

stop gained

C/A

snv

0.700

Hyperopia

CUI:	C0020490
Disease:	Hyperopia

29

0.790

0.280

16

89281225

stop gained

C/A

snv

0.700

Nasal bridge wide

CUI:	C1849367
Disease:	Nasal bridge wide

29

0.790

0.280

16

89281225

stop gained

C/A

snv

0.700

Orbital separation excessive

CUI:	C0020534
Disease:	Orbital separation excessive

77

0.790

0.280

16

89281225

stop gained

C/A

snv

0.700

Poor school performance

CUI:	C1843367
Disease:	Poor school performance

411

0.790

0.280

16

89281225

stop gained

C/A

snv

0.700

Retrognathia

CUI:	C3494422
Disease:	Retrognathia

11

0.790

0.280

16

89281225

stop gained

C/A

snv

0.700