P4HB, prolyl 4-hydroxylase subunit beta, 5034

N. diseases: 222; N. variants: 6
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: C0240602
Disease: opioid use
opioid use
disease Mental or Behavioral Dysfunction 39 5 0.010 None < 0.001 1 2020 2020
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 0.010 None 1.000 1 2020 2020
CUI: C0150055
Disease: Chronic pain
Chronic pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 207 19 0.010 None < 0.001 1 2020 2020
CUI: C1855038
Disease: Hepatocellular necrosis
Hepatocellular necrosis
phenotype Disease or Syndrome 41 0.010 None 1.000 1 2020 2020
CUI: C3714636
Disease: Pneumonitis
Pneumonitis
disease Infections; Respiratory Tract Diseases Disease or Syndrome 697 13 0.010 None 1.000 1 2020 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2019 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.020 None 1.000 2 2019 2020
CUI: C1955603
Disease: Deaf-Blind Disorders
Deaf-Blind Disorders
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2019 2019
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2019 2019
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None 1.000 1 2019 2019
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2019 2019
CUI: C0155747
Disease: Aneurysm of splenic artery
Aneurysm of splenic artery
disease Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2019 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.010 None 1.000 1 2019 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2019 2019
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis
disease Infections; Nervous System Diseases Disease or Syndrome 865 7 0.010 None 1.000 1 2019 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.010 None 1.000 1 2019 2019
CUI: C0740372
Disease: Gastrointestinal lymphoma
Gastrointestinal lymphoma
disease Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.010 None 1.000 1 2019 2019
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.010 None 1.000 1 2019 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.010 None 1.000 1 2019 2019
Necrotizing enterocolitis in fetus OR newborn
disease Digestive System Diseases Disease or Syndrome 210 26 0.010 None 1.000 1 2019 2019
CUI: C0267211
Disease: Gastric Antral Vascular Ectasia
Gastric Antral Vascular Ectasia
disease Digestive System Diseases; Cardiovascular Diseases Acquired Abnormality 7 0.010 None 1.000 1 2019 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2019 2019
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 1 2019 2019