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: 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: C0948786
Disease: Blanching
Blanching 		phenotype Sign or Symptom 7 0.010 None 1.000 1 2018 2018
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		phenotype Organism Function 109 220 0.100 None 1.000 1 1 2012 2012
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 4 2019 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: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke 		disease Disease or Syndrome 42 28 0.010 None 1.000 1 2012 2012
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.030 None 1.000 3 2016 2017
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 219 79 0.010 None 1.000 1 3 2019 2019
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
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: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		phenotype Organism Function 45 84 0.100 None 1.000 1 1 2016 2016
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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.400 None 1.000 14 1 2011 2019
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: C1842247
Disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
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: 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: C0242231
Disease: Coronary Stenosis
Coronary Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 111 20 0.010 None 1.000 1 1 2012 2012
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: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
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