SUMO1, small ubiquitin like modifier 1, 7341

N. diseases: 133; N. variants: 2
Disease: Cleft palate with cleft lip ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.050 GeneticVariation disease BEFREE Interestingly, the main clinical phenotype reported for a disruption of the SUMO1 locus is the common birth defect cleft lip and palate. 28197921 2017
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.050 Biomarker disease BEFREE Small ubiquitin-like modifier 1 (SUMO1) has been shown to be associated with cleft lip and palate in animal models. 20738159 2010
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.050 Biomarker disease BEFREE SAE1, a SUMO-1 activating enzyme subunit, may be related to cleft lip and palate. 19022414 2009
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.050 Biomarker disease BEFREE Small ubiquitin-like modifier 1 (SUMO1) haploinsufficiency results in cleft lip and palate in animal models. 18983974 2008
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.050 GeneticVariation disease BEFREE We studied a patient with isolated cleft lip and palate and a balanced chromosomal translocation that disrupts the SUMO1 (small ubiquitin-related modifier) gene, resulting in haploinsufficiency. 16990542 2006