RASA1, RAS p21 protein activator 1, 5921

N. diseases: 237; N. variants: 41
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: C0575518
Disease: Hypertrophy of upper limb
Hypertrophy of upper limb 		phenotype Finding 1 0.100 None 0
CUI: C4023803
Disease: Hypertrophy of the lower limb
Hypertrophy of the lower limb 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C3275453
Disease: Cutaneous capillary malformation
Cutaneous capillary malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 0.020 None 0.500 2 2015 2017
CUI: C2675370
Disease: Capillary Malformation Without Arteriovenous Malformation
Capillary Malformation Without Arteriovenous Malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 None 0
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		disease Disease or Syndrome 3 7 0.600 None 1.000 4 7 2003 2015
CUI: C1562503
Disease: Vein of Galen Malformations
Vein of Galen Malformations 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 3 0.010 None 1.000 1 2018 2018
CUI: C2751544
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 		disease Finding 3 3 0.400 moderate 0 2
CUI: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 4 25 0.010 None 1.000 1 2009 2009
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		disease Neoplastic Process 5 7 0.100 None 0 3
CUI: C0008732
Disease: Chylous Ascites
Chylous Ascites 		disease Digestive System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2013 2013
CUI: C0796037
Disease: Martsolf syndrome
Martsolf syndrome 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 3 0.010 None 1.000 1 2008 2008
CUI: C4021971
Disease: Peripheral arteriovenous fistula
Peripheral arteriovenous fistula 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 8 0.100 None 0
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 6 0.010 None 1.000 1 2017 2017
CUI: C0085932
Disease: Bullous Dermatitis
Bullous Dermatitis 		group Skin and Connective Tissue Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2003 2003
CUI: C2242482
Disease: Exacerbation of idiopathic pulmonary fibrosis
Exacerbation of idiopathic pulmonary fibrosis 		disease Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C1969623
Disease: NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 13 32 0.010 None 1.000 1 2016 2016
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 14 6 0.030 None 1.000 3 2012 2018
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 16 22 0.010 None 1.000 1 2005 2005
CUI: C0243002
Disease: Tricuspid Atresia
Tricuspid Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 18 1 0.010 None 1.000 1 2019 2019
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 18 18 0.010 None 1.000 1 2010 2010
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 4 0.010 None 1.000 1 2015 2015
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.300 0
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 20 13 0.010 None 1.000 1 1995 1995
CUI: C1719494
Disease: PERIODONTITIS, LOCALIZED AGGRESSIVE
PERIODONTITIS, LOCALIZED AGGRESSIVE 		disease Stomatognathic Diseases Disease or Syndrome 20 2 0.010 None 1.000 1 2015 2015
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 22 22 0.800 strong 1.000 33 22 2003 2020