ACTN4, actinin alpha 4, 81

N. diseases: 166; N. variants: 10
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 0.952 21 1998 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.060 None 1.000 6 2008 2018
CUI: C2902887
Disease: Nephrotic syndrome with focal and segmental hyalinosis
Nephrotic syndrome with focal and segmental hyalinosis 		disease Disease or Syndrome 3 0.200 None 1.000 3 2003 2007
CUI: C2902888
Disease: Nephrotic syndrome with focal and segmental sclerosis
Nephrotic syndrome with focal and segmental sclerosis 		disease Disease or Syndrome 3 0.200 None 1.000 3 2003 2007
CUI: C2902889
Disease: Nephrotic syndrome with focal glomerulonephritis
Nephrotic syndrome with focal glomerulonephritis 		disease Disease or Syndrome 3 0.200 None 1.000 3 2003 2007
CUI: C0854985
Disease: Adenocarcinoma of lung, stage I
Adenocarcinoma of lung, stage I 		disease Neoplastic Process 37 1 0.020 None 1.000 2 2013 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2005 2015
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0346989
Disease: Secondary malignant neoplasm of peritoneum
Secondary malignant neoplasm of peritoneum 		disease Neoplastic Process 58 2 0.010 None 1.000 1 2008 2008
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2018 2018
CUI: C0854078
Disease: Diabetic end stage renal disease
Diabetic end stage renal disease 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 2012 2012
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		disease Disease or Syndrome 23 7 0.010 None 1.000 1 2018 2018
CUI: C1333964
Disease: Liver Dysplastic Nodule
Liver Dysplastic Nodule 		disease Disease or Syndrome 15 0.010 None 1.000 1 2014 2014
CUI: C2749515
Disease: Collapsing glomerulopathy
Collapsing glomerulopathy 		disease Disease or Syndrome 10 0.010 None 1.000 1 2008 2008
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2018 2018
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease 		disease Disease or Syndrome 13 3 0.010 None 1.000 1 2019 2019
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0233532
Disease: Maladaptive behavior associated with physical illness
Maladaptive behavior associated with physical illness 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 26 0.010 None 1.000 1 2018 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2010 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.110 None 1.000 1 2017 2017
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 2019 2019
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2018 2018
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 91 16 0.010 None 1.000 1 2018 2018
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 100 54 0.030 None 1.000 3 2012 2017