DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs1057518345 ×

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

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057518345

ADNP

CUI:	C0349588
Disease:	Short stature

Short stature

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C4014538
Disease:	ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder

ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C1849075
Disease:	Relative macrocephaly

Relative macrocephaly

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0795690
Disease:	Congenital omphalocele

Congenital omphalocele

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0014877
Disease:	Esotropia

Esotropia

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C4317146
Disease:	Acid reflux

Acid reflux

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0262374
Disease:	Stricture of anus

Stricture of anus

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C2674608
Disease:	Feeding difficulties in infancy

Feeding difficulties in infancy

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0016202
Disease:	Flatfoot

Flatfoot

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0025990
Disease:	Micrognathism

Micrognathism

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0266298
Disease:	Accessory kidney

Accessory kidney

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0016522
Disease:	Foramen Ovale, Patent

Foramen Ovale, Patent

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C1837142
Disease:	Poor suck

Poor suck

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0423110
Disease:	Downward slant of palpebral fissure

Downward slant of palpebral fissure

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C4025678
Disease:	Abnormal trachea morphology

Abnormal trachea morphology

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0004352
Disease:	Autistic Disorder

Autistic Disorder

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C1834042
Disease:	Hypoplasia of facial musculature

Hypoplasia of facial musculature

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0235659
Disease:	Reduced fetal movement

Reduced fetal movement

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0266589
Disease:	Congenital ear anomaly NOS (disorder)

Congenital ear anomaly NOS (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0456070
Disease:	Growth delay

Growth delay

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0010308
Disease:	Congenital Hypothyroidism

Congenital Hypothyroidism

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057518345

ADNP

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

0.700

CausalMutation

CLINVAR

Cloning and characterization of the human activity-dependent neuroprotective protein.

11013255

2001