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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Parkinson Disease (D010300)
..Starting node ..Parkinson Disease 13 (C565204)
Child Nodes:
Sister Nodes:
..AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
..Paralysis Agitans, Juvenile, Of Hunt (C562469)
..PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
..Parkinson Disease 10 (C564653)
..Parkinson Disease 11 (C564345)
..PARKINSON DISEASE 11, AUTOSOMAL DOMINANT (OMIM:607688)
..Parkinson Disease 12 (C564486)
..Parkinson Disease 13 (C565204)
..PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
..PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
..Parkinson Disease 16 (C567726)
..Parkinson disease 3 (C537176)
..Parkinson Disease 3, Autosomal Dominant Lewy Body (C566552)
..Parkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
..PARKINSON DISEASE 5, AUTOSOMAL DOMINANT (OMIM:613643)
..Parkinson Disease 6, Autosomal Recessive Early-Onset (C565276)
..Parkinson Disease 7, Autosomal Recessive Early-Onset (C565238)
..PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
..Parkinson Disease, Familial, Type 1 (C566823)
..PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
..Parkinson Disease, Mitochondrial (C564015)
..Parkinsonism, early onset with mental retardation (C537179)
..Parkinsonism-Dystonia, Infantile (C567730)
..Progressive supranuclear palsy atypical (C537240)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8654

Name:

Parkinson Disease 13

Definition:

Alternative IDs:

ParentIDs:

MESH:D010300

TreeNumbers:

C10.228.140.079.862.500/C565204 |C10.228.662.600.400/C565204 |C10.574.812/C565204

Synonyms:

PARK13

Slim Mappings:

Nervous system disease

Reference:

MedGen: C565204
MeSH: C565204
OMIM: 610297;

Genes: HTRA2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002067	Bradykinesia
3	HP:0002548	Parkinsonism with favorable response to dopaminergic medication
4	HP:0002063	Rigidity
5	HP:0001337	Tremor

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_013247.4(HTRA2):c.1195G>A (p.Gly399Ser)	-1	-	risk factor	72470545	RCV000004589;	N	MedGen:C1853202,OMIM:610297	2	74759825	74759825	NM_013247.4:c.1195G>A	NP_037379.1:p.Gly399Ser	NC_000002.11:g.74759825G>A	OMIM Allelic Variant:606441.0001	C1853202 610297 Parkinson disease 13
NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser)	27429	HTRA2	risk factor	72470544	RCV000004590;	N	MedGen:C1853202,OMIM:610297	2	74757554	74757554	NM_013247.4:c.421G>T	NP_037379.1:p.Ala141Ser	NC_000002.11:g.74757554G>T	OMIM Allelic Variant:606441.0002	C1853202 610297 Parkinson disease 13
NM_013247.4(HTRA2):c.427C>G (p.Pro143Ala)	27429	HTRA2	risk factor	387906942	RCV000023546;	N	MedGen:C1853202,OMIM:610297	2	74757560	74757560	NM_013247.4:c.427C>G	NP_037379.1:p.Pro143Ala	NC_000002.11:g.74757560C>G	OMIM Allelic Variant:606441.0003	C1853202 610297 Parkinson disease 13