DisGeNET - a database of gene-disease associations

SRCAP, Snf2 related CREBBP activator protein, 10847

N. diseases: 118; N. variants: 9

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:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0015310
Disease:	Exotropia

Exotropia

Eye Diseases; Nervous System Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0405124
Disease:	Nuchal Cord

Nuchal Cord

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C2674608
Disease:	Feeding difficulties in infancy

Feeding difficulties in infancy

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0003862
Disease:	Arthralgia

Arthralgia

Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C1844820
Disease:	Range of joint movement increased

Range of joint movement increased

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C1847524
Disease:	Hyperopic astigmatism

Hyperopic astigmatism

Eye Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0020490
Disease:	Hyperopia

Hyperopia

Eye Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0009806
Disease:	Constipation

Constipation

Pathological Conditions, Signs and Symptoms

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C1859077
Disease:	Aplasia/Hypoplasia of the nails

Aplasia/Hypoplasia of the nails

Pathological Conditions, Signs and Symptoms

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C4023278
Disease:	Left aortic arch with retroesophageal right subclavian artery

Left aortic arch with retroesophageal right subclavian artery

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C1850049
Disease:	Clinodactyly of the 5th finger

Clinodactyly of the 5th finger

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0024636
Disease:	Malocclusion

Malocclusion

Stomatognathic Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C3887499
Disease:	Renal cyst

Renal cyst

Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0344541
Disease:	Persistent pupillary membranes

Persistent pupillary membranes

Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C4012968
Disease:	Mild global developmental delay

Mild global developmental delay

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0028738
Disease:	Nystagmus

Nystagmus

Eye Diseases; Nervous System Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0431478
Disease:	Posteriorly rotated ear

Posteriorly rotated ear

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0026827
Disease:	Muscle hypotonia

Muscle hypotonia

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C1844806
Disease:	Weight less than 3rd percentile

Weight less than 3rd percentile

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C4022658
Disease:	Punctate periventricular T2 hyperintense foci

Punctate periventricular T2 hyperintense foci

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C4022873
Disease:	Small pituitary gland

Small pituitary gland

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C4021803
Disease:	Abnormal eyelid morphology

Abnormal eyelid morphology

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0271441
Disease:	Chronic otitis media

Chronic otitis media

Otorhinolaryngologic Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0729582
Disease:	Floating-harbor syndrome

Floating-harbor syndrome

Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0041974
Disease:	Urethral Stenosis

Urethral Stenosis

Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases

0.700