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: 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: 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: 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: 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
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: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.110 None 1.000 5 1 2012 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
disease Disease or Syndrome 2 3 0.600 strong 1.000 3 3 2012 2018
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
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
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: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery
phenotype Nutritional and Metabolic Diseases; Cardiovascular Diseases Pathologic Function 51 205 0.100 None 1.000 2 4 2011 2013
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: 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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
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: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
disease Disease or Syndrome 271 13 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0