PBX1, PBX homeobox 1, 5087

N. diseases: 167; N. variants: 14
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: C4539968
Disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 		disease Disease or Syndrome 1 5 0.410 strong 1.000 2 5 2017 2019
CUI: C0522628
Disease: Acute lymphoblastic leukemia, L1 type
Acute lymphoblastic leukemia, L1 type 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1 0.010 None 1.000 1 1995 1995
CUI: C2673888
Disease: Decreased numbers of nephrons
Decreased numbers of nephrons 		phenotype Finding 2 0.100 None 0
CUI: C1842681
Disease: Hypoplastic helices
Hypoplastic helices 		phenotype Finding 4 2 0.100 None 0
CUI: C3887498
Disease: Bifid ureter
Bifid ureter 		disease Congenital Abnormality 4 0.100 None 0
CUI: C1857055
Disease: Anteverted ears
Anteverted ears 		phenotype Finding 7 0.100 None 0
CUI: C0431692
Disease: Bilateral renal hypoplasia
Bilateral renal hypoplasia 		disease Congenital Abnormality 8 0.310 None 1.000 2 2017 2019
CUI: C0001621
Disease: Adrenal Gland Diseases
Adrenal Gland Diseases 		group Endocrine System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2009 2009
CUI: C3275899
Disease: Hyperechogenic kidneys
Hyperechogenic kidneys 		phenotype Finding 12 2 0.100 None 0
CUI: C3826044
Disease: Lymphoblastic leukemia in children
Lymphoblastic leukemia in children 		disease Neoplastic Process 19 2 0.010 None 1.000 1 2002 2002
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 83 0.010 None 1.000 1 2019 2019
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 25 7 0.010 None 1.000 1 2019 2019
CUI: C0862030
Disease: Precursor B-lymphoblastic lymphoma/leukemia
Precursor B-lymphoblastic lymphoma/leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 25 0.010 None 1.000 1 2019 2019
CUI: C1698581
Disease: Rokitansky Kuster Hauser syndrome
Rokitansky Kuster Hauser syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 27 3 0.010 None 1.000 1 1 2015 2015
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2019 2019
CUI: C2697636
Disease: Hyperdiploid B Acute Lymphoblastic Leukemia
Hyperdiploid B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 32 13 0.020 None 0.500 2 2010 2011
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		disease Congenital Abnormality 35 3 0.010 None 1.000 1 2016 2016
CUI: C0343640
Disease: African Burkitt's lymphoma
African Burkitt's lymphoma 		disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 36 5 0.300 None 1.000 2 1990 2007
CUI: C0027070
Disease: Myoepithelioma
Myoepithelioma 		disease Neoplasms Neoplastic Process 36 0.010 None 1.000 1 2008 2008
CUI: C2748055
Disease: Hypoinsulinaemia (disorder)
Hypoinsulinaemia (disorder) 		disease Disease or Syndrome 36 0.010 None 1.000 1 2018 2018
CUI: C1837732
Disease: Thickened helices
Thickened helices 		phenotype Finding 37 3 0.100 None 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 41 3 0.100 None 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype Finding 42 5 0.100 None 0
CUI: C0349637
Disease: Common acute lymphoblastic leukemia
Common acute lymphoblastic leukemia 		disease Neoplastic Process 43 0.020 None 1.000 2 2008 2010
CUI: C3896961
Disease: Adult Pre-B Acute Lymphoblastic Leukemia
Adult Pre-B Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 44 2 0.020 None 1.000 2 1993 2009