RTL1, retrotransposon Gag like 1, 388015

N. diseases: 119; N. variants: 2
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: C4707793
Disease: Isochromosomy Yp
Isochromosomy Yp
disease Disease or Syndrome 3 0.010 None 1.000 1 1996 1996
CUI: C1304300
Disease: Skin Nodular Basal Cell Carcinoma
Skin Nodular Basal Cell Carcinoma
disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2020 2020
CUI: C1377589
Disease: Regressing nevus
Regressing nevus
disease Neoplastic Process 4 0.010 None 1.000 1 2011 2011
CUI: C4083056
Disease: Basal cell carcinoma, nodular
Basal cell carcinoma, nodular
disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2020 2020
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 5 6 0.010 None 1.000 1 2016 2016
Uniparental disomy, paternal, chromosome 14
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.310 None 1.000 2 2008 2012
CUI: C0029077
Disease: Ophthalmia, Sympathetic
Ophthalmia, Sympathetic
disease Eye Diseases; Immune System Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 1996 1996
CUI: C0278884
Disease: Melanoma recurrent
Melanoma recurrent
phenotype Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 12 1 0.010 None 1.000 1 1996 1996
CUI: C0206740
Disease: Calcifying Odontogenic Cyst
Calcifying Odontogenic Cyst
disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 15 1 0.010 None 1.000 1 2012 2012
CUI: C0396060
Disease: Congenital laryngeal adductor palsy
Congenital laryngeal adductor palsy
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 17 0.010 None 1.000 1 2015 2015
Stage 0 Cutaneous Melanoma AJCC v6 and v7
disease Neoplastic Process 18 2 0.020 None 1.000 2 2018 2018
CUI: C0751691
Disease: Perineurioma
Perineurioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 18 3 0.010 None 1.000 1 2005 2005
CUI: C1719494
Disease: PERIODONTITIS, LOCALIZED AGGRESSIVE
PERIODONTITIS, LOCALIZED AGGRESSIVE
disease Stomatognathic Diseases Disease or Syndrome 20 2 0.010 None 1.000 1 2018 2018
CUI: C0346040
Disease: Stage 0 Skin Melanoma
Stage 0 Skin Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 21 2 0.020 None 1.000 2 2018 2018
Stage IV Cutaneous Melanoma AJCC v6 and v7
disease Neoplastic Process 26 4 0.010 None 1.000 1 2008 2008
CUI: C0276199
Disease: Canarypox (disorder)
Canarypox (disorder)
disease Disease or Syndrome 32 0.010 None 1.000 1 2001 2001
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon
disease Disease or Syndrome 33 28 0.010 None 1.000 1 2019 2019
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 39 0.010 None 1.000 1 1996 1996
CUI: C1321872
Disease: Stage IV Skin Melanoma
Stage IV Skin Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 45 29 0.010 None 1.000 1 2008 2008
CUI: C0549297
Disease: Auricular swelling
Auricular swelling
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 49 0.010 None 1.000 1 2018 2018
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue
disease Neoplasms Neoplastic Process 51 2 0.010 None 1.000 1 2015 2015
CUI: C0206633
Disease: Angiomyolipoma
Angiomyolipoma
disease Neoplasms Neoplastic Process 53 1 0.020 None 1.000 2 1999 2001
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.010 None 1.000 1 2002 2002
CUI: C0028880
Disease: Odontogenic Tumors
Odontogenic Tumors
group Neoplasms Neoplastic Process 62 2 0.010 None 1.000 1 2012 2012
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2 0.020 None 1.000 2 1983 1996