HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 698; N. variants: 29
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: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		phenotype Musculoskeletal Diseases Acquired Abnormality 23 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0238441
Disease: Subglottic stenosis
Subglottic stenosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality 17 2 0.100 None 1.000 9 1 2005 2009
CUI: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2007 2007
CUI: C0597984
Disease: Biliary stricture
Biliary stricture 		disease Digestive System Diseases Anatomical Abnormality 17 0.010 None 1.000 1 2000 2000
CUI: C4020895
Disease: Genitourinary dysplasia
Genitourinary dysplasia 		disease Anatomical Abnormality 3 0.010 None 1.000 1 1987 1987
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 54 2 0.100 None 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.100 None 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		disease Anatomical Abnormality 32 6 0.100 None 0
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		disease Anatomical Abnormality 32 4 0.100 None 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger 		phenotype Musculoskeletal Diseases Anatomical Abnormality 8 1 0.100 None 0
CUI: C2674738
Disease: Abnormality of toe
Abnormality of toe 		group Musculoskeletal Diseases Anatomical Abnormality 6 1 0.100 None 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group Anatomical Abnormality 96 4 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 10 1 2002 2017
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality 28 82 0.570 1.000 8 2 2006 2016
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.050 None 1.000 5 1986 1998
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.030 None 1.000 3 1991 1994
CUI: C0003076
Disease: Aniridia
Aniridia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.020 None 1.000 2 1983 1987
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.010 None 1.000 1 2019 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.110 None 1.000 1 1 2007 2007
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.010 None 1.000 1 1988 1988
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.010 None 1.000 1 2015 2015
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 12 10 0.010 None 1.000 1 2009 2009