Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363

2017
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363

2017
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Comprehensive molecular testing in patients with high functioning autism spectrum disorder. 26845707

2016
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. 27031564

2016
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 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
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Comprehensive molecular testing in patients with high functioning autism spectrum disorder. 26845707

2016
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798

2015
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798

2015
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. 25169753

2014
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 24531329

2014
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. 25057125

2014
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. 25057125

2014
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. 25169753

2014
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 24531329

2014
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Cloning and characterization of the human activity-dependent neuroprotective protein. 11013255

2001
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Cloning and characterization of the human activity-dependent neuroprotective protein. 11013255

2001