RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
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: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		disease Mental or Behavioral Dysfunction 1 5 0.600 None 1.000 1 5 2017 2017
CUI: C4021904
Disease: Abnormal size of the palpebral fissures
Abnormal size of the palpebral fissures 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0541633
Disease: Nephrosis and Glomerulosclerosis
Nephrosis and Glomerulosclerosis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0268524
Disease: gamma-Glutamyltransferase deficiency
gamma-Glutamyltransferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1504559
Disease: Retinal gliosis
Retinal gliosis 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1864365
Disease: Acromesomelia
Acromesomelia 		phenotype Finding 5 0.100 None 0
CUI: C0340231
Disease: Tracheobronchomalacia
Tracheobronchomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases Disease or Syndrome 6 0.100 None 0
CUI: C0264734
Disease: Atrial dilatation
Atrial dilatation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C0344720
Disease: Left atrial dilatation
Left atrial dilatation 		disease Congenital Abnormality 8 0.010 None 1.000 1 2019 2019
CUI: C0347390
Disease: Skin Papilloma
Skin Papilloma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 8 0.010 None 1.000 1 2017 2017
CUI: C1838652
Disease: SPLIT-HAND/FOOT MALFORMATION 3
SPLIT-HAND/FOOT MALFORMATION 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2013 2013
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		disease Anatomical Abnormality 9 1 0.100 None 0
CUI: C1368816
Disease: Sebaceous adenoma
Sebaceous adenoma 		disease Neoplasms Neoplastic Process 11 6 0.010 None 1.000 1 2015 2015
CUI: C0876994
Disease: Cardiotoxicity
Cardiotoxicity 		disease Pathological Conditions, Signs and Symptoms; Chemically-Induced Disorders; Cardiovascular Diseases; Wounds and Injuries Injury or Poisoning 13 1 0.300 None 1.000 1 2018 2018
CUI: C1318518
Disease: Infantile malignant osteopetrosis
Infantile malignant osteopetrosis 		disease Musculoskeletal Diseases Congenital Abnormality 13 0.010 None < 0.001 1 2011 2011
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		phenotype Finding 15 1 0.100 None 0
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		disease Disease or Syndrome 17 0.010 None 1.000 1 2020 2020
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 17 9 0.010 None 1.000 1 2011 2011
CUI: C1856119
Disease: Low hanging columella
Low hanging columella 		phenotype Finding 17 1 0.100 None 0
CUI: C1141926
Disease: Abdominal sepsis
Abdominal sepsis 		disease Disease or Syndrome 18 0.010 None 1.000 1 2017 2017
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		disease Congenital Abnormality 18 3 0.100 None 0
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		phenotype Finding 18 4 0.100 None 0
CUI: C0342731
Disease: Deficiency of mevalonate kinase
Deficiency of mevalonate kinase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 23 0.030 None 1.000 3 2008 2014
CUI: C0038441
Disease: Stress Disorders, Traumatic
Stress Disorders, Traumatic 		group Mental Disorders Mental or Behavioral Dysfunction 20 0.010 None 1.000 1 2013 2013
CUI: C0008029
Disease: Cherubism
Cherubism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 22 6 0.010 None 1.000 1 2004 2004