rs1057518345, ADNP

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. 28221363 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Comprehensive molecular testing in patients with high functioning autism spectrum disorder. 26845707 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
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
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. 25169753 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. 25057125 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 24531329 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Cloning and characterization of the human activity-dependent neuroprotective protein. 11013255 2001
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
0.700 CausalMutation CLINVAR
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
0.700 CausalMutation CLINVAR
Congenital omphalocele
CUI: C0795690
Disease: Congenital omphalocele
0.700 CausalMutation CLINVAR
Esotropia
CUI: C0014877
Disease: Esotropia
0.700 CausalMutation CLINVAR
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
0.700 CausalMutation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 CausalMutation CLINVAR
Stricture of anus
CUI: C0262374
Disease: Stricture of anus
0.700 CausalMutation CLINVAR
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
0.700 CausalMutation CLINVAR
Flatfoot
CUI: C0016202
Disease: Flatfoot
0.700 CausalMutation CLINVAR
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.700 CausalMutation CLINVAR
Accessory kidney
CUI: C0266298
Disease: Accessory kidney
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Foramen Ovale, Patent
CUI: C0016522
Disease: Foramen Ovale, Patent
0.700 CausalMutation CLINVAR