RAP1A, RAP1A, member of RAS oncogene family, 5906

N. diseases: 215; N. variants: 7
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.
Leukocyte-Adhesion Deficiency Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2004 2004
Eversion of lateral third of lower eyelids
phenotype Eye Diseases Finding 6 0.100 None 0
CUI: C0279746
Disease: Adenocarcinoma of salivary gland
Adenocarcinoma of salivary gland
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 10 0.010 None 1.000 1 1989 1989
CUI: C1835796
Disease: Crossed fused renal ectopia
Crossed fused renal ectopia
phenotype Finding 10 0.100 None 0
Leukocyte Adhesion Deficiency Type 3
disease Disease or Syndrome 11 3 0.010 None 1.000 1 2007 2007
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae
phenotype Congenital Abnormality 13 2 0.100 None 0
CUI: C0341059
Disease: Lip pit
Lip pit
disease Anatomical Abnormality 14 0.100 None 0
Obstruction of pelviureteric junction
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 14 2 0.100 None 0
CUI: C1842878
Disease: Short 5th finger
Short 5th finger
disease Congenital Abnormality 18 3 0.100 None 0
CUI: C1858565
Disease: Duplicated collecting system
Duplicated collecting system
disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger
phenotype Finding 20 2 0.100 None 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow
phenotype Finding 20 0.100 None 0
CUI: C1857479
Disease: Short columella
Short columella
phenotype Finding 20 5 0.100 None 0
CUI: C4324298
Disease: Tumour inflammation
Tumour inflammation
disease Disease or Syndrome 24 0.010 None 1.000 1 2013 2013
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 9 0.010 None 1.000 1 2019 2019
CUI: C1290807
Disease: Diarrheal disorder
Diarrheal disorder
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 32 0.010 None 1.000 1 2013 2013
Intestinal infectious disease (disorder)
group Digestive System Diseases; Infections Disease or Syndrome 34 0.010 None 1.000 1 2019 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 37 253 0.310 None 1.000 1 2015 2015
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 44 0.100 None 0
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 49 3 0.200 None 1.000 1 2012 2012
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 49 4 0.100 None 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag
phenotype Finding 53 4 0.100 None 0
CUI: C1257763
Disease: Overnutrition
Overnutrition
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 54 0.010 None 1.000 1 2019 2019
CUI: C2931367
Disease: Thyroid cancer, follicular
Thyroid cancer, follicular
disease Neoplasms Neoplastic Process 58 5 0.010 None 1.000 1 2018 2018
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 78 0.010 None 1.000 1 2018 2018