PHACTR1, phosphatase and actin regulator 1, 221692

N. diseases: 59; N. variants: 28
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: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality 16 2 0.100 None 0
CUI: C3158111
Disease: response to SSRI
response to SSRI
phenotype Cell Function 28 53 0.100 None 1.000 1 1 2015 2015
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 3 1 2016 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 4 2019 2019
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0026034
Disease: Microstomia
Microstomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.500 None 1.000 28 4 2011 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.200 None 1.000 23 5 2011 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.400 None 1.000 14 1 2011 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.490 None 0.909 11 3 2009 2018
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.110 None 1.000 5 1 2012 2019
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting
disease Cardiovascular Diseases Disease or Syndrome 33 4 0.040 None 1.000 4 1 2015 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.040 None 1.000 4 2016 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.040 None 1.000 4 2016 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.040 None 1.000 4 2 2016 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.030 None 1.000 3 2016 2017
CUI: C0338480
Disease: Common Migraine
Common Migraine
disease Nervous System Diseases Disease or Syndrome 77 62 0.400 None 1.000 3 1 2012 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
disease Disease or Syndrome 2 3 0.600 strong 1.000 3 3 2012 2018
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia
disease Cardiovascular Diseases Disease or Syndrome 47 3 0.020 None 1.000 2 1 2016 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.110 None 1.000 2 2 2014 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None < 0.001 1 2015 2015
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 203 1423 0.010 None 1.000 1 1 2019 2019
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.010 None 1.000 1 1 2019 2019