VCL, vinculin, 7414

N. diseases: 105; N. variants: 20
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: C1969639
Disease: Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1w 		disease Cardiovascular Diseases Disease or Syndrome 1 1 0.600 strong 1.000 5 1 2002 2018
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 1 2 0.700 strong 1.000 4 2 2006 2018
CUI: C0238305
Disease: Sickle cell nephropathy
Sickle cell nephropathy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2014 2014
CUI: C0345237
Disease: Short segment Hirschsprung's disease
Short segment Hirschsprung's disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 5 1 0.010 None 1.000 1 1 2017 2017
CUI: C1866423
Disease: Quebec platelet disorder
Quebec platelet disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2009 2009
CUI: C1707544
Disease: Cutaneous Fibrous Histiocytoma, Epithelioid Variant
Cutaneous Fibrous Histiocytoma, Epithelioid Variant 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C4049328
Disease: Renal medullary carcinoma
Renal medullary carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 12 0.010 None 1.000 1 2012 2012
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory 		phenotype Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 2017 2017
CUI: C0348898
Disease: Irritable bowel syndrome with diarrhea
Irritable bowel syndrome with diarrhea 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 0.020 None 1.000 2 2017 2019
CUI: C0553980
Disease: Endomyocardial Fibrosis
Endomyocardial Fibrosis 		phenotype Cardiovascular Diseases Pathologic Function 20 0.100 None 0
CUI: C4049883
Disease: Obstructive Ureterocele
Obstructive Ureterocele 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 25 0.010 None 1.000 1 1997 1997
CUI: C4518356
Disease: MiT family translocation renal cell carcinoma
MiT family translocation renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 33 0.010 None 1.000 1 2019 2019
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		disease Cardiovascular Diseases Disease or Syndrome 35 26 0.100 None 0 1
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 60 9 0.010 None 1.000 1 2006 2006
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 61 0.300 None 1.000 1 2008 2008
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 66 201 0.020 None 1.000 2 2 2017 2017
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 73 3 0.300 None 1.000 1 2008 2008
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype Finding 74 1 0.100 None 0
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 75 16 0.030 None 1.000 3 2014 2019
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 83 47 0.300 None 1.000 1 2002 2002
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 89 0.300 None 1.000 1 2008 2008
CUI: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor 		disease Neoplasms Neoplastic Process 103 0.010 None 1.000 1 2019 2019
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 106 6 0.100 None 0
CUI: C0013371
Disease: Shigella Infections
Shigella Infections 		group Digestive System Diseases; Infections Disease or Syndrome 121 0.030 None 1.000 3 2006 2019
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0