SUMO1, small ubiquitin like modifier 1, 7341

N. diseases: 133; N. variants: 2
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1866070
Disease: OROFACIAL CLEFT 10
OROFACIAL CLEFT 10 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 1 0.500 limited 1.000 1 2012 2012
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 5 0.300 limited 1.000 1 2006 2006
CUI: C0033587
Disease: Prosthesis Loosening
Prosthesis Loosening 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 0.010 None 1.000 1 2009 2009
CUI: C1844830
Disease: CLEFT PALATE, X-LINKED
CLEFT PALATE, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2007 2007
CUI: C1863843
Disease: Neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease 		disease Nervous System Diseases Disease or Syndrome 12 0.020 None 1.000 2 2003 2019
CUI: C4022143
Disease: Unilateral cleft palate
Unilateral cleft palate 		disease Congenital Abnormality 12 1 0.100 None 0
CUI: C0392006
Disease: Unilateral cleft lip
Unilateral cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 14 1 0.100 None 0
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated 		disease Congenital Abnormality 20 2 0.010 None 1.000 1 2006 2006
CUI: C0685787
Disease: Cleft face
Cleft face 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 0.010 None 1.000 1 2011 2011
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 27 169 0.010 None 1.000 1 2005 2005
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 28 16 0.010 None 1.000 1 2013 2013
CUI: C1136084
Disease: Plasma cell dyscrasia
Plasma cell dyscrasia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 36 0.010 None 1.000 1 2015 2015
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease Congenital Abnormality 62 34 0.400 None 0
CUI: C0156149
Disease: Gastrointestinal tract vascular insufficiency
Gastrointestinal tract vascular insufficiency 		disease Digestive System Diseases Disease or Syndrome 68 0.010 None 1.000 1 2018 2018
CUI: C2004435
Disease: Vascular insufficiency of intestine
Vascular insufficiency of intestine 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 68 0.010 None 1.000 1 2018 2018
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.010 None 1.000 1 2010 2010
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 2014 2014
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 80 16 0.010 None 1.000 1 2017 2017
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		disease Nervous System Diseases Disease or Syndrome 95 0.010 None 1.000 1 2002 2002
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.340 limited 0.750 4 2008 2012
CUI: C0751356
Disease: Idiopathic Inflammatory Myopathies
Idiopathic Inflammatory Myopathies 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 106 4 0.010 None 1.000 1 2018 2018
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 109 6 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype Finding 111 0.100 None 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		disease Congenital Abnormality 113 5 0.100 None 0
CUI: C0858004
Disease: Influenza A virus infection
Influenza A virus infection 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 117 1 0.010 None 1.000 1 2017 2017