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: C1443892
Disease: Chronic Q Fever
Chronic Q Fever 		disease Infections Disease or Syndrome 22 9 0.300 None 1.000 1 2006 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2007 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2007 2019
CUI: C0040411
Disease: Tongue Neoplasms
Tongue Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 62 0.010 None 1.000 1 2009 2009
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2012 2012
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.010 None 1.000 1 2012 2012
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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2013 2013
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		disease Neoplasms Neoplastic Process 143 65 0.010 None 1.000 1 2013 2013
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.040 None 1.000 4 2 2015 2019
CUI: C4225300
Disease: CATARACT 44
CATARACT 44 		disease Disease or Syndrome 1 4 0.700 None 1.000 3 4 2015 2017
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 1 2016 2016
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.420 moderate 1.000 3 2017 2019
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 0.320 moderate 1.000 3 2017 2019
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2017 2017
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.300 moderate 1.000 1 2017 2017
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.300 moderate 1.000 1 2017 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.010 None 1.000 1 2017 2017
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2017 2017
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2017 2017
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: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.300 moderate 1.000 1 2017 2017
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 36 4 0.300 moderate 1.000 1 2017 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.010 None 1.000 1 2017 2017
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		group Neoplasms Neoplastic Process 699 32 0.010 None 1.000 1 2017 2017