CDKN1A, cyclin dependent kinase inhibitor 1A, 1026

N. diseases: 490; N. variants: 17
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: C0338078
Disease: Non-Functioning Pituitary Gland Neoplasm
Non-Functioning Pituitary Gland Neoplasm 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 56 2 0.100 None 0
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess 		phenotype Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Finding 20 0.100 None 0
CUI: C1851705
Disease: Confetti-like hypopigmented macules
Confetti-like hypopigmented macules 		phenotype Finding 8 0.100 None 0
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		phenotype Finding 18 1 0.100 None 0
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 155 33 0.010 None < 0.001 1 2001 2001
CUI: C1334281
Disease: Infiltrating Bladder Urothelial Carcinoma
Infiltrating Bladder Urothelial Carcinoma 		disease Neoplastic Process 10 0.010 None < 0.001 1 2001 2001
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.010 None < 0.001 1 2004 2004
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		disease Disease or Syndrome 33 59 0.010 None < 0.001 1 2002 2002
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None < 0.001 1 2007 2007
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		disease Infections Disease or Syndrome 429 42 0.030 None 0.333 3 2001 2003
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 539 19 0.020 None 0.500 2 1996 2003
CUI: C0027019
Disease: Myelomonocytic leukemia
Myelomonocytic leukemia 		disease Neoplasms Neoplastic Process 36 0.020 None 0.500 2 2000 2001
CUI: C1332271
Disease: Perianal Squamous Intraepithelial Neoplasia
Perianal Squamous Intraepithelial Neoplasia 		disease Neoplastic Process 52 0.030 None 0.667 3 1999 2011
CUI: C0006079
Disease: Bowen's Disease
Bowen's Disease 		disease Neoplasms Neoplastic Process 60 0.030 None 0.667 3 1999 2011
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.040 None 0.750 4 2004 2015
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.100 None 0.769 13 1996 2015
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		group Neoplasms Neoplastic Process 699 32 0.050 None 0.800 5 1995 2001
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.300 None 0.818 11 1998 2013
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.060 None 0.833 6 2009 2019
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.060 None 0.833 6 2009 2016
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.060 None 0.833 6 1995 2007
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.080 None 0.875 8 1 1996 2019
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.080 None 0.875 8 1997 2018
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.080 None 0.875 8 1995 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.100 None 0.882 17 2 1995 2019