LRRK1, leucine rich repeat kinase 1, 79705

N. diseases: 14; N. variants: 6
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.
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
disease Disease or Syndrome 1 1 0.430 None 1.000 3 1 2016 2020
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis
disease Musculoskeletal Diseases Disease or Syndrome 74 5 0.200 None 0
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness
phenotype Clinical Attribute 35 61 0.100 None 1.000 2 2 2016 2018
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0524957
Disease: Corneal Topography
Corneal Topography
phenotype Diagnostic Procedure 39 98 0.100 None 1.000 1 1 2013 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.080 None 1.000 8 2006 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.020 None 1.000 2 1 2007 2010
CUI: C0270736
Disease: Essential Tremor
Essential Tremor
disease Nervous System Diseases Disease or Syndrome 122 79 0.010 None < 0.001 1 1 2018 2018
CUI: C1318518
Disease: Infantile malignant osteopetrosis
Infantile malignant osteopetrosis
disease Musculoskeletal Diseases Congenital Abnormality 13 0.010 None 1.000 1 2018 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.010 None 1.000 1 2017 2017
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
disease Disease or Syndrome 247 76 0.010 None 1.000 1 2007 2007
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1
disease Nervous System Diseases Disease or Syndrome 46 27 0.010 None 1.000 1 2007 2007
CUI: C0005940
Disease: Bone Diseases
Bone Diseases
group Musculoskeletal Diseases Disease or Syndrome 317 10 0.010 None 1.000 1 2017 2017
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
disease Nervous System Diseases Disease or Syndrome 179 65 0.010 None < 0.001 1 2017 2017