LSS, lanosterol synthase, 4047

N. diseases: 25; 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: C4225300
Disease: CATARACT 44
CATARACT 44
disease Disease or Syndrome 1 2 0.600 1 2 2015 2015
CUI: C0023794
Disease: Lipoidosis
Lipoidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 34 0.300 2 2005 2006
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever
disease Bacterial Infections and Mycoses Disease or Syndrome 17 3 0.300 1 2006 2006
CUI: C0519066
Disease: Acute Q fever
Acute Q fever
disease Bacterial Infections and Mycoses Disease or Syndrome 7 1 0.300 1 2006 2006
CUI: C2973787
Disease: Coxiella burnetii Infection
Coxiella burnetii Infection
disease Bacterial Infections and Mycoses Disease or Syndrome 6 0.300 1 2006 2006
CUI: C0034362
Disease: Q Fever
Q Fever
disease Bacterial Infections and Mycoses Disease or Syndrome 15 0.300 1 2006 2006
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract
disease Congenital Abnormality 15 0.300 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease Congenital Abnormality 110 60 0.120 1.000 2 2 2015 2018
CUI: C3277059
Disease: Congenital Bilateral Cataracts
Congenital Bilateral Cataracts
disease Disease or Syndrome 74 0.100 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype Finding 77 4 0.100 0
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.020 1.000 2 2006 2015
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
disease Digestive System Diseases Disease or Syndrome 129 12 0.010 1.000 1 2001 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.010 1.000 1 2001 2001
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma
disease Neoplastic Process 96 54 0.010 1.000 1 2014 2014
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
disease Neoplastic Process 28 0.010 1.000 1 2001 2001
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Disease or Syndrome 111 15 0.010 1.000 1 2006 2006
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 153 705 0.010 1.000 1 2001 2001
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 14 0.010 1.000 1 2000 2000
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
disease Neoplastic Process 472 95 0.010 1.000 1 2016 2016
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 491 100 0.010 1.000 1 2016 2016
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 277 126 0.010 1.000 1 1 2016 2016
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 55 14 0.010 1.000 1 2000 2000
CUI: C0040411
Disease: Tongue Neoplasms
Tongue Neoplasms
group Neoplasms; Stomatognathic Diseases Neoplastic Process 29 0.010 1.000 1 2009 2009
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.010 1.000 1 1999 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.010 1.000 1 2001 2001