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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 0.962 80 1996 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.100 None 0.922 51 1 1999 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.400 limited 0.977 43 3 1994 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.100 None 0.897 39 1995 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 1.000 25 1996 2019
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx) 		disease Disease or Syndrome 94 5 0.100 None 1.000 23 2004 2019
CUI: C0940937
Disease: precancerous lesions
precancerous lesions 		phenotype Neoplastic Process 270 19 0.100 None 0.895 19 2002 2019
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		disease Finding 1 25 0.700 strong 1.000 13 25 1994 2010
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.100 None 0.900 10 1996 2019
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.080 None 1.000 8 2 2001 2016
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.080 None 1.000 8 2002 2016
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		disease Neoplastic Process 42 7 0.060 None 1.000 6 2007 2019
CUI: C0302180
Disease: Condyloma
Condyloma 		disease Disease or Syndrome 40 0.050 None 1.000 5 2006 2018
CUI: C2828150
Disease: HPV positive oropharyngeal squamous cell carcinoma
HPV positive oropharyngeal squamous cell carcinoma 		disease Neoplastic Process 25 0.050 None 1.000 5 2015 2018
CUI: C0741899
Disease: Poorly differentiated carcinoma
Poorly differentiated carcinoma 		phenotype Neoplastic Process 64 2 0.040 None 0.750 4 2000 2015
CUI: C4520764
Disease: Stage 0 Cutaneous Melanoma AJCC v6 and v7
Stage 0 Cutaneous Melanoma AJCC v6 and v7 		disease Neoplastic Process 18 2 0.040 None 0.500 4 2001 2019
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		disease Neoplastic Process 162 3 0.030 None 1.000 3 1996 2019
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 166 3 0.030 None 1.000 3 1996 2019
CUI: C0278504
Disease: Non-small cell lung cancer stage I
Non-small cell lung cancer stage I 		disease Neoplastic Process 115 1 0.030 None 1.000 3 2006 2009
CUI: C1332271
Disease: Perianal Squamous Intraepithelial Neoplasia
Perianal Squamous Intraepithelial Neoplasia 		disease Neoplastic Process 52 0.030 None 0.667 3 2016 2019
CUI: C1335968
Disease: Vulvar Intraepithelial Neoplasia, Differentiated Type
Vulvar Intraepithelial Neoplasia, Differentiated Type 		disease Neoplastic Process 5 0.030 None 1.000 3 2009 2018
CUI: C1527424
Disease: Cervical Squamous Intraepithelial Neoplasia 1
Cervical Squamous Intraepithelial Neoplasia 1 		disease Neoplastic Process 13 0.030 None 0.667 3 2005 2016
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		disease Neoplastic Process 83 11 0.030 None 1.000 3 2013 2016
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		disease Neoplastic Process 350 19 0.030 None 1.000 3 1995 2006
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		disease Neoplastic Process 118 1 0.030 None 1.000 3 2007 2015