SUMO1, small ubiquitin like modifier 1, 7341

N. diseases: 133; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866070
Disease: OROFACIAL CLEFT 10
OROFACIAL CLEFT 10 		0.500 Biomarker disease GENOMICS_ENGLAND Investigation of SUMO pathway genes in the etiology of nonsyndromic cleft lip with or without cleft palate. 22492558 2012
CUI: C1866070
Disease: OROFACIAL CLEFT 10
OROFACIAL CLEFT 10 		0.500 Biomarker disease CTD_human
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.400 GeneticVariation disease ORPHANET
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.400 Biomarker disease HPO
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.400 Biomarker disease HPO
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.400 GeneticVariation disease ORPHANET
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.340 Biomarker disease BEFREE SUMO1 has been implicated as having a role in the causation of cleft lip with or without cleft palate (CLP), both directly and through association studies in humans and, perhaps more controversially, in transgenic mouse studies. 22492558 2012
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.340 Biomarker disease GENOMICS_ENGLAND SUMO1 has been implicated as having a role in the causation of cleft lip with or without cleft palate (CLP), both directly and through association studies in humans and, perhaps more controversially, in transgenic mouse studies. 22492558 2012
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.340 Biomarker disease BEFREE SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in Central European patients. 21044801 2011
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.340 Biomarker disease BEFREE The risk factors identified in this study may provide a better understanding of the etiological role of SUMO1 in nonsyndromic cleft lip with or without cleft palate incidence. 20738159 2010
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.340 GeneticVariation disease BEFREE SUMO1 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate. 18983974 2008
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.320 GeneticVariation disease BEFREE SUMO1 genetic polymorphisms may contribute to the risk of nonsyndromic cleft lip with or without palate: a meta-analysis. 25111678 2014
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.320 Biomarker disease BEFREE Because SUMO-1 was also involved in cleft lip/palate in human patients, the previous findings provided a powerful rationale to question whether SUMO-1 was mutated in infants born with cleft palates and ASDs. 21563299 2011
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.320 GeneticVariation disease LHGDN SUMO1 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate. 18983974 2008
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.320 GeneticVariation disease LHGDN SUMO1 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate. 18983974 2008
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.320 Biomarker disease CTD_human SUMO1 haploinsufficiency leads to cleft lip and palate. 16990542 2006
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.320 Biomarker disease CTD_human SUMO1 haploinsufficiency leads to cleft lip and palate. 16990542 2006
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		0.300 Biomarker disease GENOMICS_ENGLAND SUMO1 haploinsufficiency leads to cleft lip and palate. 16990542 2006
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.300 Biomarker disease CTD_human SUMO1 haploinsufficiency leads to cleft lip and palate. 16990542 2006
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness 		0.300 Biomarker phenotype CTD_human Proteome analysis of hepatocellular carcinoma cell strains, MHCC97-H and MHCC97-L, with different metastasis potentials. 15048980 2004
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		0.100 Biomarker disease HPO
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		0.100 Biomarker disease HPO
CUI: C0392006
Disease: Unilateral cleft lip
Unilateral cleft lip 		0.100 Biomarker disease HPO
CUI: C1853237
Disease: Isolated cases
Isolated cases 		0.100 Biomarker phenotype HPO