LSS, lanosterol synthase, 4047

N. diseases: 74; 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: C0276447
Disease: Rhinovirus infection
Rhinovirus infection 		disease Infections Disease or Syndrome 202 4 0.010 None 1.000 1 2018 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2019 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2019 2019
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.010 None 1.000 1 2000 2000
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 462 2 0.010 None 1.000 1 2020 2020
CUI: C0410636
Disease: Degenerative lumbar spinal stenosis
Degenerative lumbar spinal stenosis 		disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0519066
Disease: Acute Q fever
Acute Q fever 		disease Infections Disease or Syndrome 10 3 0.300 None 1.000 1 2006 2006
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.010 None 1.000 1 2006 2006
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.300 moderate 1.000 1 2017 2017
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		disease Digestive System Diseases Disease or Syndrome 264 58 0.010 None 1.000 1 2000 2000
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2000 2000
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.010 None 1.000 1 2012 2012
CUI: C0854924
Disease: Papillary serous endometrial carcinoma
Papillary serous endometrial carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 63 0.010 None 1.000 1 2000 2000
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease Eye Diseases Disease or Syndrome 67 9 0.010 None 1.000 1 2000 2000
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2017 2017
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		disease Neoplasms Neoplastic Process 143 65 0.010 None 1.000 1 2013 2013
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever 		disease Infections Disease or Syndrome 22 9 0.300 None 1.000 1 2006 2006
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2019 2019
CUI: C1865343
Disease: OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 26 9 0.010 None 1.000 1 2017 2017
CUI: C2880562
Disease: Age-related cortical cataract
Age-related cortical cataract 		disease Acquired Abnormality 9 2 0.010 None 1.000 1 2018 2018
CUI: C2973787
Disease: Coxiella burnetii Infection
Coxiella burnetii Infection 		disease Infections Disease or Syndrome 6 0.300 None 1.000 1 2006 2006
CUI: C4551986
Disease: AMR Syndrome
AMR Syndrome 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C4748930
Disease: HYPOTRICHOSIS 14
HYPOTRICHOSIS 14 		disease Disease or Syndrome 1 5 0.400 None 1.000 1 5 2018 2018
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0