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: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 2 8 0.800 strong 1.000 12 8 2000 2015
CUI: C0403548
Disease: Salcedo syndrome
Salcedo syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 2013 2013
CUI: C0451720
Disease: Nephrotic syndrome, focal and segmental glomerular lesions
Nephrotic syndrome, focal and segmental glomerular lesions 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 0.200 None 1.000 3 2003 2007
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: C1710040
Disease: Secondary Focal Segmental Glomerulosclerosis
Secondary Focal Segmental Glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 4 0.020 None 1.000 2 2014 2017
CUI: C2919166
Disease: Autosomal dominant focal segmental glomerulosclerosis
Autosomal dominant focal segmental glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 1 0.020 None 1.000 2 2003 2005
CUI: C0341698
Disease: Atrophy of kidney
Atrophy of kidney 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 1 0.010 None < 0.001 1 2016 2016
CUI: C1332900
Disease: Cerebellar hemangioblastoma
Cerebellar hemangioblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 6 4 0.010 None 1.000 1 2013 2013
CUI: C1865974
Disease: Hypomagnesemia 1, Intestinal
Hypomagnesemia 1, Intestinal 		disease Nutritional and Metabolic Diseases Disease or Syndrome 6 8 0.010 None 1.000 1 2010 2010
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: C0158687
Disease: Congenital malformation of genital organs
Congenital malformation of genital organs 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 1 0.010 None 1.000 1 2013 2013
CUI: C0278688
Disease: Stage IV Ovarian Carcinoma
Stage IV Ovarian Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 9 0.010 None 1.000 1 2008 2008
CUI: C0333497
Disease: Segmental glomerulosclerosis
Segmental glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0020951
Disease: Immune Complex Diseases
Immune Complex Diseases 		group Immune System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C2749515
Disease: Collapsing glomerulopathy
Collapsing glomerulopathy 		disease Disease or Syndrome 10 0.010 None 1.000 1 2008 2008
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: C0085273
Disease: Erythema Infectiosum
Erythema Infectiosum 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 14 0.010 None 1.000 1 2017 2017
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 15 1 0.010 None < 0.001 1 2008 2008
CUI: C1333964
Disease: Liver Dysplastic Nodule
Liver Dysplastic Nodule 		disease Disease or Syndrome 15 0.010 None 1.000 1 2014 2014
CUI: C1709661
Disease: Primary Focal Segmental Glomerulosclerosis
Primary Focal Segmental Glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 0.030 None 1.000 3 2009 2014
CUI: C0268747
Disease: Diffuse mesangial sclerosis (disorder)
Diffuse mesangial sclerosis (disorder) 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 0.020 None 1.000 2 2016 2017
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		disease Disease or Syndrome 23 7 0.010 None 1.000 1 2018 2018
CUI: C1708565
Disease: Invasive Cutaneous Melanoma
Invasive Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 25 7 0.010 None 1.000 1 2014 2014