HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 457; N. variants: 23
Source: BEFREE ×
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: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 379 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: 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 18 17 0.570 1.000 7 2 2006 2016
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 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 132 23 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 46 12 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 127 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 377 64 0.110 None 1.000 1 1 2007 2007
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 135 3 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 55 9 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
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 25 0.010 None 1.000 1 1983 1983
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 97 10 0.110 None 1.000 1 1 2012 2012
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 106 1 0.010 None 1.000 1 2015 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 140 6 0.010 None 1.000 1 2017 2017
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 43 1 0.010 None 1.000 1 2015 2015
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 3 0.010 None 1.000 1 2015 2015
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 41 16 1.000 definitive 0.974 78 10 1982 2020
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 96 147 0.060 None 1.000 6 1991 1994
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 362 54 0.050 None 1.000 5 1999 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 77 65 0.640 1.000 4 3 2006 2018
CUI: C2931658
Disease: Phacomatosis pigmentokeratotica
Phacomatosis pigmentokeratotica 		disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.540 strong 1.000 4 2005 2018
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 106 1 0.030 None 1.000 3 1988 1988
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1277 392 0.030 None 1.000 3 1989 1997