Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE In this patient, four genes (MOCS3, DPM1, ADNP, BCAS4) are deleted, which were not affected in the other three cases, suggesting that the deletion of one or more of these genes contributes to the mental retardation. 17623483 2007
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 GeneticVariation disease BEFREE In this patient, four genes (MOCS3, DPM1, ADNP, BCAS4) are deleted, which were not affected in the other three cases, suggesting that the deletion of one or more of these genes contributes to the mental retardation. 17623483 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 AlteredExpression disease BEFREE ADNP mRNA was reduced in MS compared to control peripheral blood. 19923857 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.360 Biomarker disease BEFREE To evaluate a possible involvement of ADNP and ADNP2 in the pathophysiology of schizophrenia in humans, we measured relative brain mRNA transcripts of both proteins compared with control subjects. 20598862 2011
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.030 Biomarker group BEFREE ADNP haploinsufficiency in mice results in tauopathy and cognitive deficits ameliorated by davunetide treatment. 22956189 2012
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 Biomarker disease BEFREE ADNP haploinsufficiency in mice results in tauopathy and cognitive deficits ameliorated by davunetide treatment. 22956189 2012
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 Biomarker group BEFREE ADNP haploinsufficiency in mice results in tauopathy and cognitive deficits ameliorated by davunetide treatment. 22956189 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.360 AlteredExpression disease BEFREE 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Here, we report ten patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/SNF remodeling complex. 24531329 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.090 GeneticVariation disease BEFREE Here, we report ten patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/SNF remodeling complex. 24531329 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 AlteredExpression disease BEFREE The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. 25169753 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Also, ADNP was found to be mutated in an autism/ID syndrome. 25169878 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE ADNP is discovered here as unique to chordata with specific autism mutations different from cancer-associated mutation. 25428252 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.070 Biomarker disease BEFREE The recent finding of activity-dependent neuroprotective protein (ADNP) as a protein decreased in serum of patients with Alzheimer's disease (AD) compared to controls, alongside with the discovery of ADNP mutations in autism and coupled with the original description of cancer mutations, ignited an interest for a comparative analysis of ADNP with other AD/autism/cancer-associated genes. 25428252 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group BEFREE ADNP is discovered here as unique to chordata with specific autism mutations different from cancer-associated mutation. 25428252 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 GeneticVariation group BEFREE ADNP is discovered here as unique to chordata with specific autism mutations different from cancer-associated mutation. 25428252 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.090 Biomarker disease BEFREE Activity-dependent neuroprotective protein (ADNP) is a most frequent autism spectrum disorder (ASD)-associated gene and the only protein significantly decreasing in the serum of Alzheimer's disease (AD) patients. 25646590 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.070 Biomarker disease BEFREE Activity-dependent neuroprotective protein (ADNP) is a most frequent autism spectrum disorder (ASD)-associated gene and the only protein significantly decreasing in the serum of Alzheimer's disease (AD) patients. 25646590 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 GeneticVariation disease BEFREE The cytoskeleton as a drug target for neuroprotection: the case of the autism- mutated ADNP. 25955282 2016
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.030 Biomarker group BEFREE Our protein interaction studies identified ADNP as a member of the chromatin remodeling complex, SWI/SNF also associated with alternative splicing of tau and prediction of tauopathy. 25955282 2016
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 GeneticVariation disease BEFREE ADNP key functions extend from mice to men, with mutations causing ADNP-related ID/autism syndrome, also known as the Helsmoortel-Van der Aa syndrome. 27870441 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease BEFREE Sexual divergence in activity-dependent neuroprotective protein impacting autism, schizophrenia, and Alzheimer's disease. 27870441 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.360 Biomarker disease BEFREE It is important to note that ADNP is sexually regulated in the brains of birds, mice, and men and in lymphocytes of patients suffering from schizophrenia. 27870441 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.070 AlteredExpression disease BEFREE ADNP mRNA increases in lymphocytes derived from schizophrenia patients and in patients suffering from mild cognitive impairment (MCI) and further increases in Alzheimer's disease patients compared with controls.Serum ADNP levels correlate with IQ. 27870441 2017
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.010 AlteredExpression disease BEFREE ADNP mRNA increases in lymphocytes derived from schizophrenia patients and in patients suffering from mild cognitive impairment (MCI) and further increases in Alzheimer's disease patients compared with controls.Serum ADNP levels correlate with IQ. 27870441 2017