HRAS, HRas proto-oncogene, GTPase, 3265

N. diseases: 71; N. variants: 21
Source: CLINVAR ×
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.
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.100 None 0 4
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 5 8 0.100 None 0 1
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 21 23 0.100 None 0 1
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
disease Neoplastic Process 1 1 0.100 None 0 1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
phenotype Finding 64 116 0.100 None 0 1
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 26 29 0.100 None 0 1
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 5 0.400 None 0 3
CUI: C4016398
Disease: COSTELLO SYNDROME, SEVERE
COSTELLO SYNDROME, SEVERE
disease Finding 1 1 0.100 None 0 1
CUI: C4225656
Disease: SPITZ NEVUS, SOMATIC
SPITZ NEVUS, SOMATIC
disease Neoplastic Process 1 1 0.100 None 0 1
CUI: C4225657
Disease: NEVUS SPILUS, SOMATIC
NEVUS SPILUS, SOMATIC
phenotype Finding 1 1 0.100 None 0 1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 27 141 0.500 None 0.833 1 8 1987 2016
CUI: C0030354
Disease: Papilloma
Papilloma
disease Neoplasms Neoplastic Process 2 2 0.500 None 0.909 9 1 1992 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 37 211 0.500 None 0.923 1 9 1990 2016
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 16 1.000 definitive 0.974 54 16 1982 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 26 98 0.200 None 0.975 1 4 1983 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 10 1 2002 2017
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 63 92 0.100 None 1.000 9 1 2005 2009
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease
phenotype Finding 7 8 0.100 None 1.000 9 1 2005 2009
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 20 33 0.100 None 1.000 9 1 2005 2009
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 2 2 0.100 None 1.000 9 1 2005 2009
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease Cardiovascular Diseases Disease or Syndrome 19 38 0.100 None 1.000 9 1 2005 2009
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 29 468 0.120 None 1.000 9 1 2005 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 13 82 0.180 None 1.000 9 1 1982 2014
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
disease Disease or Syndrome 12 12 0.100 None 1.000 9 1 2005 2009
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 8 9 0.100 None 1.000 9 1 2005 2009