POC1A, POC1 centriolar protein A, 25886

N. diseases: 59; N. variants: 3
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.
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 3 0.760 None 1.000 9 3 2012 2020
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.030 None 1.000 3 2017 2019
CUI: C2004632
Disease: aberrant right subclavian artery
aberrant right subclavian artery
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 0.020 None 1.000 2 2012 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2019 2019
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 2019 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.020 None 1.000 2 2014 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2013 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2013 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2018 2018
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
FANCONI ANEMIA, COMPLEMENTATION GROUP Q
disease Disease or Syndrome 4 7 0.300 strong 1.000 1 2012 2012
CUI: C3553735
Disease: Microcephaly in adulthood
Microcephaly in adulthood
phenotype Finding 1 0.300 strong 1.000 1 2016 2016
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer
disease Neoplastic Process 51 18 0.010 None 1.000 1 2018 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.010 None 1.000 1 2015 2015
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 39 9 0.300 strong 1.000 1 2016 2016
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.010 None 1.000 1 2012 2012
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.010 None 1.000 1 2018 2018
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2019 2019
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom 139 65 0.010 None 1.000 1 2017 2017
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 2016 2016
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2019 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2016 2016
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 2019 2019
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.010 None 1.000 1 2015 2015
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 2018 2018