APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
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 0.040 None 1.000 4 2013 2018
CUI: C4290046
Disease: trachomatis
trachomatis 		disease Disease or Syndrome 175 7 0.040 None 1.000 4 1997 1998
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.030 None 1.000 3 2005 2019
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		disease Congenital Abnormality 53 5 0.020 None 1.000 2 2011 2017
CUI: C1291390
Disease: Deficiency of phosphorylase kinase
Deficiency of phosphorylase kinase 		disease Disease or Syndrome 8 1 0.020 None 1.000 2 2005 2007
CUI: C4304832
Disease: Primary pigmented nodular adrenocortical disease
Primary pigmented nodular adrenocortical disease 		disease Disease or Syndrome 22 1 0.020 None 1.000 2 2002 2004
CUI: C4331029
Disease: Primary Pigmented Nodular Adrenal Dysplasia
Primary Pigmented Nodular Adrenal Dysplasia 		disease Congenital Abnormality 31 1 0.020 None 1.000 2 2002 2004
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2005 2010
CUI: C0004059
Disease: aspirin intolerance
aspirin intolerance 		phenotype Sign or Symptom 23 4 0.010 None 1.000 1 2016 2016
CUI: C0151236
Disease: Conduction system abnormalities
Conduction system abnormalities 		disease Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer 		disease Neoplastic Process 145 9 0.010 None 1.000 1 2017 2017
CUI: C0340420
Disease: Cardiac glycogenosis
Cardiac glycogenosis 		disease Congenital Abnormality 3 0.010 None 1.000 1 2002 2002
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.010 None 1.000 1 2011 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2002 2002
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia 		disease Neoplastic Process 255 2 0.010 None 1.000 1 1987 1987
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2019 2019
CUI: C3203622
Disease: Crystal nephropathy
Crystal nephropathy 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 3 		disease Disease or Syndrome 209 20 0.010 None 1.000 1 2008 2008
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2012 2012
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2013 2013
CUI: C4509226
Disease: Heart failure with preserved ejection fraction [HFpEF]
Heart failure with preserved ejection fraction [HFpEF] 		disease Disease or Syndrome 89 4 0.010 None 1.000 1 2019 2019
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2014 2014
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2014 2014
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2014 2014
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2014 2014