Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363

2017
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0432072
Disease: Dysmorphic features
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
ADNP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Comprehensive molecular testing in patients with high functioning autism spectrum disorder. 26845707

2016
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0432072
Disease: Dysmorphic features
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
ADNP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798

2015
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. 25169753

2014
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. 25057125

2014
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 24531329

2014
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Cloning and characterization of the human activity-dependent neuroprotective protein. 11013255

2001
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
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 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0014877
Disease: Esotropia
Esotropia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C4317146
Disease: Acid reflux
Acid reflux 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0016202
Disease: Flatfoot
Flatfoot 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0266298
Disease: Accessory kidney
Accessory kidney 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		C 0.700 CausalMutation CLINVAR