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: C0005823
Disease: Blood Pressure
Blood Pressure
phenotype Organism Function 109 220 0.100 None 1.000 1 1 2012 2012
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke
disease Disease or Syndrome 42 28 0.010 None 1.000 1 2012 2012
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis
disease Cardiovascular Diseases Disease or Syndrome 111 20 0.010 None 1.000 1 1 2012 2012
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 35 0.100 None 1.000 1 1 2013 2013
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: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting
disease Cardiovascular Diseases Disease or Syndrome 33 4 0.040 None 1.000 4 1 2015 2019
CUI: C3158111
Disease: response to SSRI
response to SSRI
phenotype Cell Function 28 53 0.100 None 1.000 1 1 2015 2015
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: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 1 1 2015 2015
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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.040 None 1.000 4 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: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 3 1 2016 2019
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: C0008810
Disease: Circadian Rhythms
Circadian Rhythms
phenotype Organism Function 45 84 0.100 None 1.000 1 1 2016 2016
Premature coronary artery atherosclerosis
phenotype Cardiovascular Diseases Disease or Syndrome 87 43 0.010 None 1.000 1 2 2016 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.310 strong 1.000 3 2017 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.400 strong 1.000 2 2017 2017
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.010 None 1.000 1 2017 2017
CUI: C0342649
Disease: Vascular calcification
Vascular calcification
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 257 3 0.010 None 1.000 1 2017 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 strong 1.000 1 2017 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 9 2017 2017
CUI: C0018681
Disease: Headache
Headache
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 338 75 0.100 None 1.000 1 1 2018 2018
CUI: C0948786
Disease: Blanching
Blanching
phenotype Sign or Symptom 7 0.010 None 1.000 1 2018 2018