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: C4225300
Disease: CATARACT 44
CATARACT 44
disease Disease or Syndrome 1 4 0.700 None 1.000 3 4 2015 2017
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: C4748930
Disease: HYPOTRICHOSIS 14
HYPOTRICHOSIS 14
disease Disease or Syndrome 1 5 0.400 None 1.000 1 5 2018 2018
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: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex
disease Skin and Connective Tissue Diseases Disease or Syndrome 37 5 0.320 None 1.000 2 2018 2019
CUI: C0023794
Disease: Lipoidosis
Lipoidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 0.300 None 1.000 2 2005 2006
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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 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: C1443892
Disease: Chronic Q Fever
Chronic Q Fever
disease Infections Disease or Syndrome 22 9 0.300 None 1.000 1 2006 2006
CUI: C0034362
Disease: Q Fever
Q Fever
disease Infections Disease or Syndrome 26 0.300 None 1.000 1 2006 2006
CUI: C2973787
Disease: Coxiella burnetii Infection
Coxiella burnetii Infection
disease Infections Disease or Syndrome 6 0.300 None 1.000 1 2006 2006
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: C0519066
Disease: Acute Q fever
Acute Q fever
disease Infections Disease or Syndrome 10 3 0.300 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: 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: C0266539
Disease: Congenital total cataract
Congenital total cataract
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 16 0.300 None 0
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp
phenotype Finding 12 1 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair
phenotype Finding 57 0.100 None 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow
phenotype Finding 68 8 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes
phenotype Finding 60 4 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0