CPQ, carboxypeptidase Q, 10404

N. diseases: 87; N. variants: 1
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: C2930674
Disease: Human Babesiosis
Human Babesiosis 		disease Infections; Animal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C0275594
Disease: Infection due to Brucella suis
Infection due to Brucella suis 		disease Infections Disease or Syndrome 3 0.010 None 1.000 1 2003 2003
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 66 0.010 None 1.000 1 2010 2010
CUI: C0030290
Disease: Pancreatic Fistula
Pancreatic Fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0040896
Disease: Trichinellosis
Trichinellosis 		disease Infections Disease or Syndrome 14 0.010 None 1.000 1 2013 2013
CUI: C1332243
Disease: Adenocarcinoma of ampulla of Vater
Adenocarcinoma of ampulla of Vater 		disease Neoplasms Neoplastic Process 15 1 0.010 None 1.000 1 2018 2018
CUI: C0302362
Disease: Brucella melitensis infection
Brucella melitensis infection 		disease Infections Disease or Syndrome 17 0.010 None 1.000 1 2003 2003
CUI: C0396060
Disease: Congenital laryngeal adductor palsy
Congenital laryngeal adductor palsy 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 17 0.010 None 1.000 1 2018 2018
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 19 4 0.010 None 1.000 1 2010 2010
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		phenotype Disease or Syndrome 23 0.010 None 1.000 1 2019 2019
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 31 0.010 None 1.000 1 2017 2017
CUI: C0008060
Disease: child abuse behavior
child abuse behavior 		phenotype Mental or Behavioral Dysfunction 40 11 0.010 None 1.000 1 2018 2018
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.010 None 1.000 1 2017 2017
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 74 0.010 None 1.000 1 2001 2001
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 54 7 0.010 None 1.000 1 2016 2016
CUI: C1962942
Disease: TRICHOMONAS VAGINALIS (finding)
TRICHOMONAS VAGINALIS (finding) 		disease Disease or Syndrome 56 0.010 None 1.000 1 2018 2018
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 60 4 0.010 None 1.000 1 2019 2019
CUI: C0023860
Disease: Listeriosis
Listeriosis 		disease Infections Disease or Syndrome 76 0.010 None 1.000 1 2015 2015
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 0.010 None 1.000 1 2011 2011
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 89 1 0.010 None 1.000 1 2017 2017
CUI: C0006309
Disease: Brucellosis
Brucellosis 		disease Infections Disease or Syndrome 92 30 0.010 None 1.000 1 2003 2003
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.030 None 1.000 3 2017 2019
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 134 0.300 None 1.000 1 2015 2015
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 38 0.010 None 1.000 1 2019 2019
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 158 23 0.010 None 1.000 1 2016 2016