PGPEP1, pyroglutamyl-peptidase I, 54858

N. diseases: 116; N. variants: 8
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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2011 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2017 2017
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2016 2016
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 43 14 0.010 None 1.000 1 2000 2000
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 46 0.010 None 1.000 1 2000 2000
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.100 None 1.000 10 2009 2019
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.020 None 1.000 2 2010 2011
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 0.020 None 1.000 2 2011 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 1999 1999
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic 		disease Digestive System Diseases Disease or Syndrome 203 61 0.030 None 1.000 3 2019 2019
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		disease Digestive System Diseases Disease or Syndrome 158 108 0.010 None 1.000 1 2000 2000
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.030 None 0.667 3 2015 2019
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.010 None 1.000 1 2017 2017
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.010 None 1.000 1 2014 2014
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.010 None < 0.001 1 2006 2006
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		phenotype Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 186 43 0.010 None 1.000 1 2009 2009
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2019 2019
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		group Immune System Diseases Disease or Syndrome 451 116 0.010 None 1.000 1 2014 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 1992 1992
CUI: C0003175
Disease: Anthrax disease
Anthrax disease 		disease Infections Disease or Syndrome 66 3 0.010 None 1.000 1 2019 2019
CUI: C0035235
Disease: Respiratory Syncytial Virus Infections
Respiratory Syncytial Virus Infections 		group Infections Disease or Syndrome 244 5 0.010 None 1.000 1 2008 2008
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		group Infections Disease or Syndrome 384 72 0.010 None 1.000 1 2018 2018
CUI: C0275524
Disease: Coinfection
Coinfection 		phenotype Infections Disease or Syndrome 252 11 0.010 None 1.000 1 2003 2003
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		disease Infections Disease or Syndrome 429 42 0.010 None 1.000 1 2003 2003
CUI: C0497169
Disease: hiv-infection/aids
hiv-infection/aids 		disease Infections Disease or Syndrome 124 4 0.010 None 1.000 1 2019 2019