Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.020 GeneticVariation group BEFREE In humans, defects in the NEPH2 gene have been associated with neurodevelopmental disorders such as Jacobsen syndrome, intellectual disability, and autism-spectrum disorders. 30133126 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.020 Biomarker group BEFREE To elucidate the causal relationship between KIRREL3 deficiency and behavioural abnormalities relevant to neurodevelopmental disorders, we generated global Kirrel3-knockout (Kirrel3<sup>-/-</sup>) mice and investigated the detailed behavioural phenotypes. 29362445 2018