COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
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: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype Finding 89 0.100 None 0
CUI: C1858567
Disease: Abnormal lacrimal duct morphology
Abnormal lacrimal duct morphology 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4021615
Disease: Abnormal metacarpal morphology
Abnormal metacarpal morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.010 None 1.000 1 2018 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None 1.000 1 2017 2017
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None 1.000 1 2017 2017
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 2018 2018
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		disease Neoplastic Process 236 4 0.010 None 1.000 1 2018 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.100 None 1.000 13 2014 2019
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.020 None 1.000 2 2019 2019
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		disease Neoplastic Process 162 3 0.010 None 1.000 1 2017 2017
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.010 None 1.000 1 2019 2019
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		disease Eye Diseases Acquired Abnormality 92 15 0.010 None 1.000 1 2017 2017
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		disease Infections; Immune System Diseases Disease or Syndrome 100 43 0.010 None 1.000 1 2017 2017
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 124 0.010 None 1.000 1 2019 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.040 None 0.750 4 2005 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.010 None 1.000 1 2019 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 2019 2019
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.010 None 1.000 1 2016 2016
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None < 0.001 1 2017 2017
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2015 2015
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0