NRXN1, neurexin 1, 9378

N. diseases: 20; N. variants: 26
Disease: PITT-HOPKINS-LIKE SYNDROME 2 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. 22617343 2012
CUI: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2 		0.600 Biomarker disease CTD_human