PARK7, Parkinsonism associated deglycase, 11315

N. diseases: 161; N. variants: 15
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: C4732775
Disease: Leg dystonia
Leg dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.100 None 0
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
disease Nervous System Diseases Disease or Syndrome 4 7 0.970 None 1.000 25 6 2003 2017
Parkinson Disease 6, Autosomal Recessive Early-Onset
disease Nervous System Diseases Disease or Syndrome 9 25 0.100 None 0 1
CUI: C0278097
Disease: Abnormal male sexual function
Abnormal male sexual function
disease Mental or Behavioral Dysfunction 12 0.100 None 0
CUI: C1112443
Disease: Male sexual dysfunction
Male sexual dysfunction
disease Disease or Syndrome 12 0.100 None 0
CUI: C0376286
Disease: Avitaminosis
Avitaminosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2019 2019
CUI: C1510471
Disease: Vitamin Deficiency
Vitamin Deficiency
group Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2019 2019
CUI: C0338455
Disease: Dementia of frontal lobe type
Dementia of frontal lobe type
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 20 0.100 None 0
Parkinsonism with favorable response to dopaminergic medication
phenotype Nervous System Diseases Finding 21 2 0.100 None 0
CUI: C1112442
Disease: Female sexual dysfunction
Female sexual dysfunction
disease Mental or Behavioral Dysfunction 22 3 0.100 None 0
CUI: C0242423
Disease: Ramsay Hunt Paralysis Syndrome
Ramsay Hunt Paralysis Syndrome
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 2 2013 2015
Autosomal Dominant Juvenile Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 2 2013 2015
CUI: C0752101
Disease: Parkinsonism, Experimental
Parkinsonism, Experimental
disease Nervous System Diseases Experimental Model of Disease 28 0.300 None 1.000 2 2013 2015
CUI: C0752104
Disease: Familial Juvenile Parkinsonism
Familial Juvenile Parkinsonism
disease Nervous System Diseases Disease or Syndrome 28 0.300 None 1.000 2 2013 2015
CUI: C1846707
Disease: SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 17
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.020 None 1.000 2 2009 2010
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 31 7 0.100 None 0
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism
disease Nervous System Diseases Disease or Syndrome 33 1 0.350 None 1.000 7 1 2003 2016
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism
disease Nervous System Diseases Disease or Syndrome 34 3 0.300 None 1.000 2 2013 2015
Amyotrophic Lateral Sclerosis, Guam Form
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 None 0
CUI: C0752105
Disease: Parkinsonism, Juvenile
Parkinsonism, Juvenile
disease Nervous System Diseases Disease or Syndrome 40 2 0.300 None 1.000 2 2013 2015
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis
phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.300 None 1.000 1 2010 2010
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 40 4 0.100 None 0
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease
disease Nervous System Diseases Disease or Syndrome 51 32 0.100 None 1.000 20 4 2003 2019
CUI: C4721779
Disease: Ovarian cancer stage IV
Ovarian cancer stage IV
disease Neoplastic Process 51 0.010 None 1.000 1 2018 2018
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
Creutzfeldt-Jakob Disease, Sporadic
disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 57 23 0.010 None 1.000 1 2018 2018