PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29
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: C0431692
Disease: Bilateral renal hypoplasia
Bilateral renal hypoplasia 		disease Congenital Abnormality 8 0.510 None 1.000 10 1995 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.050 None 0.800 5 2011 2019
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.030 None 0.667 3 2010 2013
CUI: C4014925
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 		disease Disease or Syndrome 1 6 0.600 strong 1.000 3 6 1999 2015
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 2 2017 2019
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		disease Congenital Abnormality 35 3 0.020 None 1.000 2 2002 2012
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease Acquired Abnormality 120 1 0.010 None 1.000 1 2018 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2009 2009
CUI: C1320468
Disease: Nephrogenic rest
Nephrogenic rest 		disease Anatomical Abnormality 15 0.010 None 1.000 1 1992 1992
CUI: C1378050
Disease: Oncocytic Neoplasm
Oncocytic Neoplasm 		disease Neoplastic Process 105 2 0.010 None 1.000 1 2013 2013
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		disease Neoplastic Process 190 5 0.010 None 1.000 1 2014 2014
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile 		disease Disease or Syndrome 17 0.010 None 1.000 1 2002 2002
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.010 None 1.000 1 2019 2019
CUI: C3665489
Disease: Borderline epithelial tumor of ovary
Borderline epithelial tumor of ovary 		disease Neoplastic Process 3 0.010 None 1.000 1 2009 2009
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		disease Neoplastic Process 118 1 0.010 None 1.000 1 2011 2011
CUI: C4053762
Disease: Congenital Renal Hypoplasia
Congenital Renal Hypoplasia 		disease Disease or Syndrome 1 0.010 None 1.000 1 2001 2001
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C1844592
Disease: Soft skin
Soft skin 		phenotype Finding 22 3 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C2676026
Disease: Optic nerve dysplasia
Optic nerve dysplasia 		phenotype Finding 7 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0
CUI: C3554721
Disease: Morning glory anomaly
Morning glory anomaly 		disease Disease or Syndrome 5 0.100 None 0
CUI: C4016304
Disease: PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES 		disease Finding 1 1 0.100 None 0 1