Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.750 GeneticVariation UNIPROT Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. 23225343

2013
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.610 GeneticVariation UNIPROT We therefore considered holoprosencephaly (HPE)-associated genes as potential SCH candidates and report for the first time heterozygous mutations in SIX3 and SHH in a total of three unrelated patients and one fetus with SCH; one of them without obvious associated malformations of midline forebrain structures. 20157829

2010