COL18A1, collagen type XVIII alpha 1 chain, 80781

N. diseases: 323; N. variants: 41
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: C1849409
Disease: Knobloch syndrome
Knobloch syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.700 strong 1.000 13 2000 2018
CUI: C4551775
Disease: Knobloch Syndrome, Type I
Knobloch Syndrome, Type I 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 9 0.600 None 1.000 4 9 2000 2017
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.420 strong 1.000 2 3 2011 2018
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		disease Disease or Syndrome 20 6 0.410 strong 1.000 1 2010 2010
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.400 strong 0 2
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.400 strong 0
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		disease Neoplasms Neoplastic Process 162 7 0.310 None 1.000 2 2007 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.300 None 1.000 26 1 2002 2019
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.300 None 1.000 11 2003 2015
CUI: C0006663
Disease: Calcinosis
Calcinosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 52 0.300 None 1.000 1 2011 2011
CUI: C0263628
Disease: Tumoral calcinosis
Tumoral calcinosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 45 3 0.300 None 1.000 1 2011 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2011 2011
CUI: C0018824
Disease: Heart valve disease
Heart valve disease 		group Cardiovascular Diseases Disease or Syndrome 79 5 0.300 None 1.000 1 2011 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2011 2011
CUI: C0521174
Disease: Microcalcification
Microcalcification 		phenotype Nutritional and Metabolic Diseases Pathologic Function 42 0.300 None 1.000 1 2011 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2011 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.300 None 1.000 1 2011 2011
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.300 limited 0
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.240 None 1.000 5 2004 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.210 None 1.000 2 2006 2019
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.210 None 1.000 2 2003 2005
CUI: C1271398
Disease: Pigment dispersion syndrome (disorder)
Pigment dispersion syndrome (disorder) 		disease Eye Diseases Disease or Syndrome 18 3 0.200 None 1.000 3 2003 2011
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		disease Neoplasms Neoplastic Process 452 22 0.200 None 1.000 1 2005 2005
CUI: C2676033
Disease: Hepatoblastoma Caused By Somatic Mutation
Hepatoblastoma Caused By Somatic Mutation 		disease Digestive System Diseases; Neoplasms Neoplastic Process 106 0.200 None 1.000 1 2005 2005
CUI: C0375359
Disease: Chronic left-sided ulcerative colitis
Chronic left-sided ulcerative colitis 		disease Digestive System Diseases Disease or Syndrome 12 0.200 None 1.000 1 2006 2006