Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.610 GeneticVariation BEFREE A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 24065355

2013
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.510 GeneticVariation BEFREE We identified a variant in CCDC22 gene as the cause of an X-linked phenotype similar to RSS/3C syndrome in the family described here. 24916641

2015
Entrez Id: 1801
Gene Symbol: DPH1
DPH1
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.010 GeneticVariation BEFREE One such gene was DPH1, in which a homozygous missense mutation was associated with a 3C syndrome-like phenotype in four patients from a single extended family. 26220823

2015
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		0.010 Biomarker BEFREE This observation confirms the previous finding of cerebellar anomalies in Shprintzen syndrome, and suggests an overlap between the VCFS and 3C syndrome. 8870617

1996