CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1 		0.900 Biomarker disease CTD_human
CUI: C4552043
Disease: Cortical dysplasia with focal epilepsy syndrome
Cortical dysplasia with focal epilepsy syndrome 		0.810 Biomarker disease CTD_human
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 Biomarker disease MGD
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.200 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 Biomarker group HPO
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.150 Biomarker group HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.150 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0006325
Disease: Bruxism
Bruxism 		0.100 Biomarker phenotype HPO
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		0.100 Biomarker disease HPO
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.100 Biomarker phenotype HPO