RMI2, RecQ mediated genome instability 2, 116028

N. diseases: 38; N. variants: 38
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: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 171 41 0.100 None 1.000 1 1 2013 2013
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 218 31 0.010 None 1.000 1 1995 1995
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 255 80 0.100 None 1.000 1 1 2015 2015
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		disease Digestive System Diseases Disease or Syndrome 264 58 0.100 None 1.000 1 1 2013 2013
CUI: C1384600
Disease: Systemic onset juvenile chronic arthritis
Systemic onset juvenile chronic arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 90 53 0.100 None 1.000 1 1 2013 2013
CUI: C1858558
Disease: Rheumatoid Arthritis, Systemic Juvenile
Rheumatoid Arthritis, Systemic Juvenile 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 30 42 0.100 None 1.000 1 1 2013 2013
CUI: C2931171
Disease: Juvenile pauciarticular chronic arthritis
Juvenile pauciarticular chronic arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 26 31 0.100 None 1.000 1 1 2013 2013
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 179 14 0.010 None 1.000 1 1995 1995
CUI: C3890205
Disease: Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 26 31 0.100 None 1.000 1 1 2013 2013
CUI: C3898105
Disease: Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 51 35 0.100 None 1.000 1 1 2013 2013
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		disease Disease or Syndrome 82 142 0.100 None 1.000 1 1 2019 2019
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		disease Disease or Syndrome 82 132 0.100 None 1.000 1 1 2019 2019
CUI: C0162701
Disease: Polysomnography
Polysomnography 		phenotype Diagnostic Procedure 119 249 0.100 None 1.000 1 1 2012 2012