Disease #00039 (PD (Parkinson’s disease))

Official abbreviation	PD
Name	Parkinson’s disease
OMIM ID	-
Inheritance	-
Individuals reported having this disease	13
Phenotype entries for this disease	7
Associated with 5 genes	DRD1, GBA, GRIN2B, PINK1, PRKN
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Gender: The gender of the reported individual.
All options:

? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male

Geographic origin: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Population: Additional information on the individual's population.

Remarks: Remarks about the individual.

Microattribution: An acknowledgment to data contributor to this database.

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
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>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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13 entries on 1 page. Showing entries 1 - 13.

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Individual ID	Reference	Gender	Geographic origin	Ethnic origin	Population	Remarks	Microattribution	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00000240	Nur Fadhlina Mohamad Pakarulrazy et al. (2020) (http://www.neurologyasia.org/articles/neuroasia-2020-25(1)-039.pdf)	-	Malaysia	-	-	-	-	PD	-	GBA	GBA	10	1	Nuur Athirah Binti Mohd Daud
00000412	Zainal Abidin et al.(2015)	-	(Kuala Lumpur)	-	-	-	-	PD	-	DRD1, DRD2, DRD3, DRD4, DRD5, GRIN2B	DRD1, DRD2, DRD3, DRD4, DRD5, GRIN2B	10	1	Nur Aisyah Athirah
00000476	Aroma Agape Gopalaiet al.(2019)	-	Malaysia	Malay	-	-	-	PD	-	LRRK2	LRRK2	2	1	Nur Aisyah Athirah
00000477	Aroma Agape Gopalai et al.(2019)	-	Malaysia	Chinese	-	-	-	PD	-	LRRK2	LRRK2	2	1	Nur Aisyah Athirah
00000478	Aroma Agape Gopalai et al.(2019)	-	Malaysia	Indian	-	-	-	PD	-	LRRK2	LRRK2	2	1	Nur Aisyah Athirah
00000484	Aroma Agape Gopalai et al.(2014)	-	Malaysia	-	-	-	-	PD	-	LRRK2	LRRK2	2	1	Nur Aisyah Athirah
00000617	Shen Yang Lim et al.(2021): https://www.neurology-asia.org/articles/neuroasia-2021-26(1)-161.pdf	F	Malaysia	Chinese	-	-	-	PD	Age at PD motor symptom onset: 13, Bradykinesia, Rigidity, Tremor, Gait difficulty, Gait freezing, Postural instability/Falls, Dystonia, Obvious asymmetry, Diurnal variation, Sleep benefit, Clear favourable response to dopaminergic medication, Motor fluctuations, LD-induced dyskinesias, Insomnia, Mild Depression, Anxiety, Mild cognitive impairment	PINK1, PRKN	PINK1, PRKN	2	1	Nur Aisyah Athirah
00000618	Shen-Yang Lim et al.(2020)	F	Malaysia	Chinese	-	-	-	PD	age diagnosed with PD: 37y/o, has moderate right laterocollis and severe rigidity at the neck, total CISI-PD score (performed blinded to the patient’s genetic result) was 16 (motor signs 6, disability 6, motor complications 0, cognitive status 4), ha "purposeless groaning".	LRRK2	LRRK2	1	1	Nur Aisyah Athirah
00000619	Shen-Yang Lim et al.(2020)	F	Malaysia	Chinese	-	-	-	PD	age diagnosed with PD: 58 y/o, reduced arm swing on the right, had mild-to-moderate severity motor fluctuations, developed mild-tomoderate slurring of speech, CISI-PD scores (conducted blinded to the patient’s genetic result) were 4/4/4/1, indicating “moderate” global PD severity.	LRRK2	LRRK2	1	1	Nur Aisyah Athirah
00000640	Ai Huey Tan et al.(2020)	M	Kuala Terengganu	Malay	-	-	-	PD	bilateral leg tremors at age 41 years, experiencing slowness in movement at age 46 years, have motor fluctuations (with leg cramping and dystonia during OFF-periods) and peak-dose dyskinesias, mild cognitive impairment (MoCA score 20/30; he had attended school for 9 years), visual hallucinations with loss of insight, RBD, and constipation	PINK1	PINK1	1	1	Nur Aisyah Athirah
00000641	Ai Huey Tan et al.(2020)	M	Kuala Terengganu	Malay	-	-	-	PD	developed bilateral fine hand tremors at age 40 years associated with slow movements, develop mild motor fluctuations and peak-dose dyskinesias, During OFF-periods, he was moderately bradykinetic with leg cramping and stiffness, but remained independent, had mild auditory hallucinations with retained insight.	PINK1	PINK1	1	1	Nur Aisyah Athirah
00000652	Shen-Yang Lim et al.(2021)	F	Malaysia	Indian	-	-	-	PD	Age at PD onset: 35, Bradykinesia, Rigidity, Tremor, Gait difficulty, Postural instability, hands Dystonia	PINK1	PINK1	1	1	Nur Aisyah Athirah
00000653	Shen-Yang Lim et al.(2021)	F	Malaysia	Indian	-	-	-	PD	Age at PD onset: 60, Bradykinesia, Rigidity, Gait difficulty, Postural instability, Foot Dystonia	PINK1	PINK1	1	1	Nur Aisyah Athirah

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