CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
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: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Endocrine System Diseases Disease or Syndrome 1 9 0.600 definitive 1.000 50 9 1994 2016
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
disease Finding 1 25 0.700 strong 1.000 13 25 1994 2010
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome
disease Neoplasms; Nervous System Diseases Neoplastic Process 1 2 0.610 None 1.000 2 2 2001 2018
CUI: C0041107
Disease: Trisomy
Trisomy
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 1 0.300 None 1.000 1 2011 2011
CUI: C0235267
Disease: Redness of eye
Redness of eye
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 1 0.010 None 1.000 1 2010 2010
CUI: C0238518
Disease: Squamous cell carcinoma of vagina
Squamous cell carcinoma of vagina
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1 0.010 None 1.000 1 2012 2012
CUI: C0347493
Disease: Cervix adenomatous polyp
Cervix adenomatous polyp
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1 0.010 None 1.000 1 2005 2005
Vulval intraepithelial neoplasia grade 1
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1 0.010 None 1.000 1 2005 2005
Central Nervous System Melanocytic Neoplasm
disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.010 None 1.000 1 2013 2013
CUI: C1510961
Disease: Atypical neurofibroma
Atypical neurofibroma
disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C4283859
Disease: Cutaneous Malignant Melanoma 2
Cutaneous Malignant Melanoma 2
disease Neoplastic Process 1 0.300 strong 1.000 1 2010 2010
CUI: C0040715
Disease: Chromosomal translocation
Chromosomal translocation
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2 0.300 None 1.000 2 2011 2011
Vulval intraepithelial neoplasia grade 3
disease Neoplastic Process 2 0.020 None 1.000 2 1998 2002
CUI: C0008628
Disease: Chromosome Deletion
Chromosome Deletion
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 2 0.300 None 1.000 1 2011 2011
CUI: C0153604
Disease: Malignant neoplasm of scrotum
Malignant neoplasm of scrotum
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 0.010 None 1.000 1 1999 1999
CUI: C0269190
Disease: Squamous metaplasia of cervix
Squamous metaplasia of cervix
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 2 0.010 None 1.000 1 2020 2020
CUI: C0279838
Disease: Oropharyngeal cancer recurrent
Oropharyngeal cancer recurrent
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 2 0.010 None 1.000 1 2016 2016
tubular adenomas and adenocarcinomas
disease Neoplastic Process 2 0.010 None 1.000 1 2005 2005
Vaginal intraepithelial neoplasia grade 1
disease Neoplastic Process 2 0.010 None 1.000 1 1998 1998
CUI: C0406383
Disease: Genital lichen planus
Genital lichen planus
disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0685919
Disease: Smokeless tobacco keratosis
Smokeless tobacco keratosis
disease Infections; Stomatognathic Diseases Disease or Syndrome 2 0.010 None < 0.001 1 2008 2008
CUI: C0750081
Disease: Vaginal neoplasia
Vaginal neoplasia
disease Neoplastic Process 2 0.010 None 1.000 1 2019 2019
Malignant tenosynovial giant cell tumor
disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C1275175
Disease: Bowen's disease, pagetoid
Bowen's disease, pagetoid
disease Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C1304514
Disease: Ischemic fasciitis
Ischemic fasciitis
disease Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017