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:	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

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C4023424
Disease:	Prominent digit pad

Prominent digit pad

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C1838993
Disease:	Episodic vomiting

Episodic vomiting

Pathological Conditions, Signs and Symptoms

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0541764
Disease:	Delayed bone age

Delayed bone age

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0241397
Disease:	Triphalangeal thumb

Triphalangeal thumb

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

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0343643
Disease:	Facial wart

Facial wart

Neoplasms; Infections; Skin and Connective Tissue Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C1849735
Disease:	Underfolded helix

Underfolded helix

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0520679
Disease:	Sleep Apnea, Obstructive

Sleep Apnea, Obstructive

Respiratory Tract Diseases; Nervous System Diseases

0.700

dbSNP:

rs199469465

0.672

0.560

30737343

stop gained

C/A;T

snv

CUI:	C0018965
Disease:	Hematuria

Hematuria

Pathological Conditions, Signs and Symptoms; 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:	C0432103
Disease:	Submucous cleft of hard palate

Submucous cleft of hard palate

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases

0.700