COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.440 Biomarker disease BEFREE Among these, it is hypothesized that haploinsufficiency of AMIGO2 is potentially responsible for the mental retardation of this patient, and of COL2A1 for the cleft palate and high myopia. 20933621 2011
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.440 GeneticVariation disease BEFREE Overall, 20 of 23 sporadic patients with a COL2A1 mutation had either a cleft palate or retinal detachment with vitreous anomalies. 20179744 2010
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.440 GeneticVariation disease BEFREE Regarding unique symptoms in each case, congenital fibrosis of the extraocular muscles found only in Case 1 may be caused by KIF21A deletion and hearing loss and cleft palate in Case 2 by COL2A1 defect. 15362574 2004
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.440 Biomarker disease CTD_human Abnormal craniofacial development and expression patterns of extracellular matrix components in transgenic Del1 mice harboring a deletion mutation in the type II collagen gene. 15562585 2004
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.440 Biomarker disease BEFREE Mutations in genes coding for cartilage collagens II and XI, COL2A1, COL11A1 and COL11A2, have been shown to cause chondrodysplasias that are commonly associated with Robin sequence, micrognathia or cleft palate. 12673280 2003
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.440 CausalMutation disease CLINVAR