Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518345
rs1057518345
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
dbSNP: rs1057518345
rs1057518345
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363 2017
dbSNP: rs1555809836
rs1555809836
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
dbSNP: rs1555809836
rs1555809836
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363 2017
dbSNP: rs1555809919
rs1555809919
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363 2017
dbSNP: rs1555809919
rs1555809919
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363 2017
dbSNP: rs1555809919
rs1555809919
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
dbSNP: rs1555809919
rs1555809919
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
dbSNP: rs1555810308
rs1555810308
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
dbSNP: rs1555810308
rs1555810308
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363 2017
dbSNP: rs587777526
rs587777526
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363 2017
dbSNP: rs587777526
rs587777526
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363 2017
dbSNP: rs587777526
rs587777526
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
dbSNP: rs587777526
rs587777526
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
dbSNP: rs779340209
rs779340209
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
dbSNP: rs779340209
rs779340209
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363 2017
dbSNP: rs886041116
rs886041116
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
dbSNP: rs886041116
rs886041116
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363 2017
dbSNP: rs886041116
rs886041116
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363 2017
dbSNP: rs886041116
rs886041116
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
dbSNP: rs1057518345
rs1057518345
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. 27031564 2016
dbSNP: rs1057518345
rs1057518345
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Comprehensive molecular testing in patients with high functioning autism spectrum disorder. 26845707 2016
dbSNP: rs1555809836
rs1555809836
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Comprehensive molecular testing in patients with high functioning autism spectrum disorder. 26845707 2016
dbSNP: rs1555809836
rs1555809836
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. 27031564 2016
dbSNP: rs1555809919
rs1555809919
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR Comprehensive molecular testing in patients with high functioning autism spectrum disorder. 26845707 2016