Search Keyword : Parkinson Disease


Disease List

CUI Disease
C0030567 Parkinson Disease
C0752099 Autosomal Recessive Juvenile Parkinson Disease
C0752097 Autosomal Dominant Juvenile Parkinson Disease
 others no cui disease

Disease Information

CUI  C0030567
Disease Name  Parkinson Disease
Synonymous  Parkinson's Disease
DISEASE PARKINSON'S
Parkinson's disease, NOS
Parkinson's disease NOS
Parkinsons disease
Paralysis Agitans
Shaking palsy
PALSY, SHAKING
PALSY SHAKING
SYNDROME PARKINSON'S
PARKINSON'S SYNDROME
Idiopathic parkinsonism
Primary Parkinsonism
Parkinsonism, Primary
Lewy Body Parkinson Disease
Lewy Body Parkinson's Disease
Parkinson's Disease, Lewy Body
Idiopathic Parkinson Disease
Idiopathic Parkinson's disease
Parkinson's Disease, Idiopathic
Parkinson Disease, Idiopathic
PD - Parkinson's disease
PARALYSIS AGITANS PARKINSONISM
PARALYSIS AGITANS
Parkinson's disease NOS (disorder)
Parkinson's disease (disorder)
Parkinson`s disease
Description  A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)

progressive, degenerative disorder of the nervous system characterized by tremors, rigidity, bradykinesia, postural instability, and gait abnormalities; caused by a loss of neurons and a decrease of dopamine in the basal ganglia. 


Gene Information

CUI Disease Gene Symbol Table Name
 C0030567 Parkinson disease 4, autosomal dominant Lewy body, 605543 (3) SNCA  MorbidMap 
 C0030567 Parkinson disease 7, autosomal recessive early-onset, 606324 (3) PARK7  MorbidMap 
 C0030567 Parkinson disease, 168600 (2) PARK10  MorbidMap 
 C0030567 Parkinson disease, 168600 (3) MAPT  MorbidMap 
 C0030567 Parkinson disease, 168600 (3) SNCAIP  MorbidMap 
 C0030567 Parkinson disease, 168600 (3) TBP  MorbidMap 
 C0030567 Parkinson disease-8, 607060 (3) LRRK2  MorbidMap 
 C0030567 {Parkinson disease}, 168600 (3) NR4A2  MorbidMap 
 C0030567 PARKINSON DISEASE; PD PARKINSONISM, INCLUDED DBH  OMIM2Gene 
 C0030567 PARKINSON DISEASE; PD PARKINSONISM, INCLUDED MAPT  OMIM2Gene 
 C0030567 PARKINSON DISEASE; PD PARKINSONISM, INCLUDED NDUFV2  OMIM2Gene 
 C0030567 PARKINSON DISEASE; PD PARKINSONISM, INCLUDED NR4A2  OMIM2Gene 
 C0030567 PARKINSON DISEASE; PD PARKINSONISM, INCLUDED PARK3  OMIM2Gene 
 C0030567 PARKINSON DISEASE; PD PARKINSONISM, INCLUDED TBP  OMIM2Gene 
 C0030567 PARKINSON DISEASE; PD PARKINSONISM, INCLUDED UCHL1  OMIM2Gene 
 C0030567 PARKINSON DISEASE; PD PARKINSONISM, INCLUDED SNCAIP  OMIM2Gene 
 C0030567 PARKINSON DISEASE; PD PARKINSONISM, INCLUDED PARK10  OMIM2Gene 
 C0030567 PARKINSON DISEASE; PD PARKINSONISM, INCLUDED PARK12  OMIM2Gene 
 C0030567 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 PARK2  OMIM2Gene 
 C0030567 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4 SNCA  OMIM2Gene 
 C0030567 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4 PARK4  OMIM2Gene 
 C0030567 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 PARK7  OMIM2Gene 
 C0030567 PARKINSON DISEASE 8; PARK8 LRRK2  OMIM2Gene 
 C0030567 Parkinson's disease HFE  GAD 
 C0030567 Parkinson's disease GSTZ1  GAD 
 C0030567 Parkinson's disease GSTT1  GAD 
 C0030567 Parkinson's disease GSTT1  GAD 
 C0030567 Parkinson's disease GSTP1  GAD 
 C0030567 Parkinsons disease GSTO2  GAD 
 C0030567 Parkinson's disease GSTO1  GAD 

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SNP Information

CUI OMIM ID OMIM Variant ID Disease Gene Symbol Changes SNP ID Table Name
 C0030567 163890 0001 PARKINSON DISEASE 1 SNCA  ALA53THR  OMIM_Variant 
 C0030567 163890 0002 PARKINSON DISEASE 1 SNCA  ALA30PRO  OMIM_Variant 
 C0030567 163890 0003 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY SNCA  TRIPLICATION  OMIM_Variant 
 C0030567 163890 0005 PARKINSON DISEASE 1 SNCA  DUPLICATION  OMIM_Variant 
 C0030567 191342 0001 PARKINSON DISEASE UCHL1  ILE93MET  OMIM_Variant 
 C0030567 602533 0001 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET DJ1  14-KB DEL  OMIM_Variant 
 C0030567 602533 0002 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET DJ1  LEU166PRO  rs28938172  OMIM_Variant 
 C0030567 602533 0003 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET DJ1  MET26ILE  OMIM_Variant 
 C0030567 602533 0004 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET DJ1  ASP149ALA  OMIM_Variant 
 C0030567 602533 0005 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET DJ1  GLU64ASP  OMIM_Variant 
 C0030567 602544 0001 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  EX3-7DEL  OMIM_Variant 
 C0030567 602544 0002 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  EX4DEL  OMIM_Variant 
 C0030567 602544 0003 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  THR240ARG  OMIM_Variant 
 C0030567 602544 0004 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  GLN311TER  OMIM_Variant 
 C0030567 602544 0005 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  EX3DEL  OMIM_Variant 
 C0030567 602544 0006 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  EX8-9DEL  OMIM_Variant 
 C0030567 602544 0007 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  TRP453TER  OMIM_Variant 
 C0030567 602544 0008 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  LYS161ASN  OMIM_Variant 
 C0030567 602544 0009 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  1-BP DEL 202A  OMIM_Variant 
 C0030567 602544 0010 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  EX7DEL  OMIM_Variant 
 C0030567 602544 0011 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  ALA82GLU  OMIM_Variant 
 C0030567 602544 0012 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  CYS212TYR  OMIM_Variant 
 C0030567 602544 0013 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  VAL56GLU  OMIM_Variant 
 C0030567 602544 0014 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  1-BP DEL 255A  OMIM_Variant 
 C0030567 602544 0017 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  ARG275TRP  OMIM_Variant 
 C0030567 602544 0018 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  LYS211ASN  OMIM_Variant 
 C0030567 602544 0019 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  1-BP DEL 1072T  OMIM_Variant 
 C0030567 602544 0020 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  IVS1DS G-T +1  OMIM_Variant 
 C0030567 602544 0021 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  THR240MET  OMIM_Variant 
 C0030567 602544 0022 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PARK2  EX5-6 DEL  OMIM_Variant 

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