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
0.800 CausalMutation disease CLINVAR Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. 27439707 2017
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1
0.800 CausalMutation disease CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1
0.800 Biomarker disease MGD Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. 21962519 2011
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1
0.800 CausalMutation disease CLINVAR CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. 19896112 2009
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1
0.800 CausalMutation disease CLINVAR Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 16571880 2006
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1
0.800 Biomarker disease CTD_human
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1
0.800 GermlineCausalMutation disease ORPHANET