Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.770 Biomarker disease GENOMICS_ENGLAND CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. 25294932 2014
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.770 GermlineCausalMutation disease ORPHANET A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 24531329 2014
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.770 Biomarker disease GENOMICS_ENGLAND A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 24531329 2014
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.770 Biomarker disease CTD_human
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 24531329 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.360 Biomarker disease PSYGENET ADNP haploinsufficiency in mice, which results in age-related neuronal death, cognitive and social dysfunction, exhibited reduced hippocampal beclin1 and increased Bcl2 expression (mimicking schizophrenia and normal human aging). 24365867 2015
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.300 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome 		0.300 Biomarker disease PSYGENET Peptides NAPVSIPQ (NAP) and SALLRSIPA (SAL), related to activity-dependent neuroprotective protein (ADNP), prevent alcohol-induced damage in a mouse model of FAS. 14526315 2003
CUI: C1542327
Disease: Fetus or newborn affected by alcohol transmitted via placenta or breast milk
Fetus or newborn affected by alcohol transmitted via placenta or breast milk 		0.300 Biomarker disease PSYGENET The role of activity-dependent neuroprotective protein in a mouse model of fetal alcohol syndrome. 14526315 2003