DisGeNET - a database of gene-disease associations

ACTL6A, actin like 6A, 86

N. diseases: 46; N. variants: 1

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

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C0426891
Disease:	Broad thumbs

Broad thumbs

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

Otorhinolaryngologic Diseases

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C0019322
Disease:	Umbilical hernia

Umbilical hernia

Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C0018817
Disease:	Atrial Septal Defects

Atrial Septal Defects

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C0019294
Disease:	Hernia, Inguinal

Hernia, Inguinal

Pathological Conditions, Signs and Symptoms

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C0040485
Disease:	Torticollis

Torticollis

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C0426429
Disease:	Broad nasal tip

Broad nasal tip

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C0454644
Disease:	Delayed speech and language development

Delayed speech and language development

Behavior and Behavior Mechanisms

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C1845847
Disease:	Coarse facial features

Coarse facial features

Pathological Conditions, Signs and Symptoms

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C1859077
Disease:	Aplasia/Hypoplasia of the nails

Aplasia/Hypoplasia of the nails

Pathological Conditions, Signs and Symptoms

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C0039070
Disease:	Syncope

Syncope

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

dbSNP:

rs868064163

1.000

0.040

179586552

missense variant

C/T

snv

7.0E-06

CUI:	C4023295
Disease:	Cleft anterior mitral valve leaflet

Cleft anterior mitral valve leaflet

0.700