CAPN5, calpain 5, 726

N. diseases: 46; 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: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy
disease Eye Diseases Disease or Syndrome 142 14 0.710 None 1.000 2 3 2012 2019
Autosomal dominant neovascular inflammatory vitreoretinopathy
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 1 0.390 None 1.000 9 1 2012 2019
CUI: C0042164
Disease: Uveitis
Uveitis
disease Eye Diseases Disease or Syndrome 247 43 0.120 None 1.000 2 1 2015 2015
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration
disease Disease or Syndrome 20 6 0.120 None 1.000 2 2015 2019
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease Eye Diseases Disease or Syndrome 148 10 0.110 None 1.000 1 2015 2015
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.110 None 1.000 1 2019 2019
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0341106
Disease: Eosinophilic esophagitis
Eosinophilic esophagitis
disease Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 183 40 0.100 None 1.000 1 1 2014 2014
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.100 None 1.000 1 1 2013 2013
Peripheral retinal neovascularization
disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 1 0.100 None 0
CUI: C0042909
Disease: Vitreous Hemorrhage
Vitreous Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 12 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
phenotype Finding 158 10 0.100 None 0
Posterior retinal neovascularization
disease Pathological Conditions, Signs and Symptoms; Eye Diseases Anatomical Abnormality 1 0.100 None 0
CUI: C4024820
Disease: Large hyperpigmented retinal spots
Large hyperpigmented retinal spots
disease Anatomical Abnormality 1 0.100 None 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.030 None 1.000 3 2012 2016
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.030 None 1.000 3 2006 2008
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.020 None 1.000 2 2006 2007
CUI: C3888523
Disease: Autoimmune uveitis
Autoimmune uveitis
disease Disease or Syndrome 31 0.020 None 1.000 2 2012 2014
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2008 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2016 2016
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 1 2006 2006
CUI: C1658953
Disease: tumor vasculature
tumor vasculature
phenotype Neoplastic Process 200 0.010 None 1.000 1 2009 2009
Meningioma, benign, no ICD-O subtype
disease Neoplasms; Nervous System Diseases Neoplastic Process 404 30 0.010 None 1.000 1 2017 2017