GPC1, glypican 1, 2817

N. diseases: 96; N. variants: 3
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: C3277945
Disease: Atretic gallbladder
Atretic gallbladder
phenotype Finding 1 0.100 None 0
CUI: C4304293
Disease: Dark yellow urine
Dark yellow urine
phenotype Finding 1 0.100 None 0
Elevated gamma-glutamyltransferase activity
phenotype Finding 3 1 0.100 None 0
CUI: C1849766
Disease: Periportal fibrosis
Periportal fibrosis
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 4 1 0.100 None 0
CUI: C0232720
Disease: Pale feces (finding)
Pale feces (finding)
phenotype Digestive System Diseases Finding 5 0.100 None 0
CUI: C0554103
Disease: Intestinal malabsorption of fat
Intestinal malabsorption of fat
phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Pathologic Function 5 0.100 None 0
CUI: C2675627
Disease: Acholic stool
Acholic stool
phenotype Digestive System Diseases Finding 6 1 0.100 None 0
CUI: C4317043
Disease: Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2000 2000
CUI: C1861735
Disease: Dementia, familial Danish
Dementia, familial Danish
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2006 2006
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1
disease Disease or Syndrome 10 1 0.010 None 1.000 1 2006 2006
Resectable Pancreatic Ductal Adenocarcinoma
disease Neoplastic Process 12 0.010 None 1.000 1 2019 2019
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive
phenotype Finding 14 4 0.100 None 0
CUI: C0280222
Disease: stage, pancreatic cancer
stage, pancreatic cancer
phenotype Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 18 0.020 None 1.000 2 2015 2017
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma
disease Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 19 32 0.100 None 0
Albright's hereditary osteodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 22 0.010 None 1.000 1 2004 2004
CUI: C0302314
Disease: Xanthoma
Xanthoma
disease Nutritional and Metabolic Diseases Disease or Syndrome 29 4 0.100 None 0
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 30 20 0.010 None 1.000 1 2004 2004
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased
phenotype Hemic and Lymphatic Diseases Finding 30 0.100 None 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation
disease Digestive System Diseases Disease or Syndrome 30 0.100 None 0
CUI: C0862312
Disease: Epithelioid mesothelioma, malignant
Epithelioid mesothelioma, malignant
disease Neoplasms Neoplastic Process 32 0.020 None 1.000 2 2018 2018
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 32 1 0.100 None 0
CUI: C3146254
Disease: Stage III Colon Cancer AJCC v7
Stage III Colon Cancer AJCC v7
disease Neoplastic Process 42 3 0.010 None 1.000 1 2017 2017
CUI: C4525124
Disease: Stage III Colon Cancer AJCC v8
Stage III Colon Cancer AJCC v8
disease Neoplastic Process 42 3 0.010 None 1.000 1 2017 2017
CUI: C0278480
Disease: Stage III Colon Cancer
Stage III Colon Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 43 3 0.010 None 1.000 1 2017 2017
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 192 0.010 None 1.000 1 2006 2006