Entry Search - 168600 230800 230900 231000 231005 606463 608013

Search: '168600 230800 230900 231000 231005 606463 608013 (Search in: MIM number)'

Results: 7 entries.

* 606463. GLUCOSIDASE, BETA, ACID; GBA
GLUCOCEREBROSIDASE PSEUDOGENE, INCLUDED; GBAP, INCLUDED
Cytogenetic location: 1q22, Genomic coordinates (GRCh38): 1:155,234,452-155,244,627
Matching terms: 606463
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q22	{Lewy body dementia, susceptibility to}	127750	AD	3
	{Parkinson disease, late-onset, susceptibility to}	168600	AD, Mu	3
	Gaucher disease, perinatal lethal	608013	AR	3
	Gaucher disease, type I	230800	AR	3
	Gaucher disease, type II	230900	AR	3
	Gaucher disease, type III	231000	AR	3
	Gaucher disease, type IIIC	231005	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene WBGene00008706 WBGene00021160 ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 12246008, 5963005, 62201009, 870313002

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# 230800. GAUCHER DISEASE, TYPE I; GD1
Cytogenetic location: 1q22
Matching terms: 230800
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q22	Gaucher disease, type I	230800	AR	3	GBA1	606463

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Links
Testing GTR EuroGentest Gaucher disease Gaucher disease type 1	Clinical Resources Clinical Trials EuroGentest Gaucher disease Gaucher disease type 1 Gene Reviews GTR Newborn Screening OrphaNet Gaucher disease Gaucher disease type 1 POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 62201009 ORPHA: 355, 77259 DO: 0110957

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# 608013. GAUCHER DISEASE, PERINATAL LETHAL
Cytogenetic location: 1q22
Matching terms: 608013
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q22	Gaucher disease, perinatal lethal	608013	AR	3	GBA1	606463

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Links
Testing GTR EuroGentest Gaucher disease Fetal Gaucher disease	Clinical Resources Clinical Trials EuroGentest Gaucher disease Fetal Gaucher disease Gene Reviews GTR Newborn Screening OrphaNet Gaucher disease Fetal Gaucher disease	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
SNOMEDCT: 870313002 ORPHA: 355, 85212 DO: 0110960

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# 168600. PARKINSON DISEASE, LATE-ONSET; PD
Cytogenetic locations: 1q22, 4q23, 6q27, 12q24.12, 13q21.33, 14q32.12, 17q21.31
Matching terms: 168600
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q22	{Parkinson disease, late-onset, susceptibility to}	168600	AD, Mu	3	GBA1	606463
4q23	{Parkinson disease, susceptibility to}	168600	AD, Mu	3	ADH1C	103730
6q27	{Parkinson disease, susceptibility to}	168600	AD, Mu	3	TBP	600075
12q24.12	{Parkinson disease, late-onset, susceptibility to}	168600	AD, Mu	3	ATXN2	601517
13q21.33	{Parkinson disease, susceptibility to}	168600	AD, Mu	3	ATXN8OS	603680
14q32.12	{Parkinson disease, late-onset, susceptibility to}	168600	AD, Mu	3	ATXN3	607047
17q21.31	{Parkinson disease, susceptibility to}	168600	AD, Mu	3	MAPT	157140

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Parkinson disease - PS168600 - 34 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.23	Parkinson disease 7, autosomal recessive early-onset	AR	3	606324	DJ1	602533
1p36.13	Kufor-Rakeb syndrome	AR	3	606693	ATP13A2	610513
1p36.12	Parkinson disease 6, early onset	AR	3	605909	PINK1	608309
1p32	{Parkinson disease 10}		2	606852	PARK10	606852
1p31.3	Parkinson disease 19b, early-onset	AR	3	615528	DNAJC6	608375
1p31.3	Parkinson disease 19a, juvenile-onset	AR	3	615528	DNAJC6	608375
1q22	{Parkinson disease, late-onset, susceptibility to}	AD, Mu	3	168600	GBA1	606463
1q32	{Parkinson disease 16}		2	613164	PARK16	613164
2p13	{Parkinson disease 3}		2	602404	PARK3	602404
2p13.1	{Parkinson disease 13}		3	610297	HTRA2	606441
2q37.1	{Parkinson disease 11}		3	607688	GIGYF2	612003
3q22	Parkinson disease 21	AD	2	616361	PARK21	616361
3q27.1	{Parkinson disease 18}	AD	3	614251	EIF4G1	600495
4p13	{?Parkinson disease 5, susceptibility to}	AD	3	613643	UCHL1	191342
4q22.1	Parkinson disease 4	AD	3	605543	SNCA	163890
4q22.1	Parkinson disease 1	AD	3	168601	SNCA	163890
4q23	{Parkinson disease, susceptibility to}	AD, Mu	3	168600	ADH1C	103730
6q24.3	{Parkinson disease 26, autosomal dominant, susceptibility to}	AD	3	620923	RAB32	612906
6q26	Parkinson disease, juvenile, type 2	AR	3	600116	PRKN	602544
6q27	{Parkinson disease, susceptibility to}	AD, Mu	3	168600	TBP	600075
7p11.2	Parkinson disease 22, autosomal dominant	AD	3	616710	CHCHD2	616244
9q34.11	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	AR	3	620482	PTPA	600756
10q22.1	{Parkinson disease 24, autosomal dominant, susceptibility to}	AD	3	619491	PSAP	176801
12q12	{Parkinson disease 8}	AD	3	607060	LRRK2	609007
12q24.12	{Parkinson disease, late-onset, susceptibility to}	AD, Mu	3	168600	ATXN2	601517
13q21.33	{Parkinson disease, susceptibility to}	AD, Mu	3	168600	ATXN8OS	603680
14q32.12	{Parkinson disease, late-onset, susceptibility to}	AD, Mu	3	168600	ATXN3	607047
15q22.2	Parkinson disease 23, autosomal recessive, early onset	AR	3	616840	VPS13C	608879
16q11.2	{Parkinson disease 17}	AD	3	614203	VPS35	601501
17q21.31	{Parkinson disease, susceptibility to}	AD, Mu	3	168600	MAPT	157140
21q22.11	Parkinson disease 20, early-onset	AR	3	615530	SYNJ1	604297
22q12.3	Parkinson disease 15, autosomal recessive	AR	3	260300	FBXO7	605648
22q13.1	Parkinson disease 14, autosomal recessive	AR	3	612953	PLA2G6	603604
Xq21-q25	{Parkinson disease 12}		2	300557	PARK12	300557

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Links
Testing GTR	Clinical Resources Clinical Trials Gene Reviews LRRK2 Parkinson Disease Parkinson Disease Overview Gaucher Disease GTR	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
DO: 0060892

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# 230900. GAUCHER DISEASE, TYPE II; GD2
Cytogenetic location: 1q22
Matching terms: 230900
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q22	Gaucher disease, type II	230900	AR	3	GBA1	606463

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Links
Testing GTR EuroGentest Gaucher disease Gaucher disease type 2	Clinical Resources Clinical Trials EuroGentest Gaucher disease Gaucher disease type 2 Gene Reviews Genetic Alliance GTR Newborn Screening OrphaNet Gaucher disease Gaucher disease type 2	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 12246008 ORPHA: 355, 77260 DO: 0110958

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# 231000. GAUCHER DISEASE, TYPE III; GD3
GAUCHER DISEASE, TYPE IIIA, INCLUDED
Cytogenetic location: 1q22
Matching terms: 231000
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q22	Gaucher disease, type III	231000	AR	3	GBA1	606463

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Links
Testing GTR EuroGentest Gaucher disease Gaucher disease type 3	Clinical Resources Clinical Trials EuroGentest Gaucher disease Gaucher disease type 3 Gene Reviews Genetic Alliance GTR Newborn Screening OrphaNet Gaucher disease Gaucher disease type 3	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 5963005 ORPHA: 355, 77261 DO: 0110959

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# 231005. GAUCHER DISEASE, TYPE IIIC; GD3C
Cytogenetic location: 1q22
Matching terms: 231005
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q22	Gaucher disease, type IIIC	231005	AR	3	GBA1	606463

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Links
Testing GTR EuroGentest Gaucher disease-ophthalmop… Gaucher disease	Clinical Resources Clinical Trials EuroGentest Gaucher disease-ophthalmop… Gaucher disease Gene Reviews Genetic Alliance MedlinePlus Genetics GTR Newborn Screening OrphaNet Gaucher disease-ophthalmop… Gaucher disease POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
ORPHA: 2072, 355 DO: 0112250

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Search: 168600 230800 230900 231000 231005 606463 608013 (Search in: MIM number)

Results: 7 entries.

# 230800. GAUCHER DISEASE, TYPE I; GD1
Cytogenetic location: 1q22
Matching terms: 230800

# 608013. GAUCHER DISEASE, PERINATAL LETHAL
Cytogenetic location: 1q22
Matching terms: 608013

# 168600. PARKINSON DISEASE, LATE-ONSET; PD
Cytogenetic locations: 1q22, 4q23, 6q27, 12q24.12, 13q21.33, 14q32.12, 17q21.31
Matching terms: 168600

# 230900. GAUCHER DISEASE, TYPE II; GD2
Cytogenetic location: 1q22
Matching terms: 230900

# 231000. GAUCHER DISEASE, TYPE III; GD3
GAUCHER DISEASE, TYPE IIIA, INCLUDED
Cytogenetic location: 1q22
Matching terms: 231000

# 231005. GAUCHER DISEASE, TYPE IIIC; GD3C
Cytogenetic location: 1q22
Matching terms: 231005

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Printed: March 5, 2025