Entry Search - 212720 600118 602207 602536 609275 611663 614222 614225 615663

Search: '212720 600118 602207 602536 609275 611663 614222 614225 615663 (Search in: MIM number)'

Results: 9 entries.

# 600118. WARBURG MICRO SYNDROME 1; WARBM1
Cytogenetic location: 2q21.3
Matching terms: 600118
► 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
2q21.3	Warburg micro syndrome 1	600118	AR	3	RAB3GAP1	602536

▲ Close

Warburg micro syndrome - PS600118 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Warburg micro syndrome 2	AR	3	614225	RAB3GAP2	609275
2q21.3	Warburg micro syndrome 1	AR	3	600118	RAB3GAP1	602536
10p12.1	Warburg micro syndrome 3	AR	3	614222	RAB18	602207
20p13	Warburg micro syndrome 4	AR	3	615663	TBC1D20	611663

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

▲ Close

ICD+
SNOMEDCT: 772224009 ORPHA: 2510 DO: 0110716

▲ Close

* 609275. RAB3 GTPase-ACTIVATING PROTEIN, NONCATALYTIC SUBUNIT; RAB3GAP2
Cytogenetic location: 1q41, Genomic coordinates (GRCh38): 1:220,148,293-220,272,453
Matching terms: 609275
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q41	Martsolf syndrome 1	212720	AR	3
1q41	Warburg micro syndrome 2	614225	AR	3

▲ Close

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 NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

▲ Close

# 614222. WARBURG MICRO SYNDROME 3; WARBM3
Cytogenetic location: 10p12.1
Matching terms: 614222
► 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
10p12.1	Warburg micro syndrome 3	614222	AR	3	RAB18	602207

▲ Close

Warburg micro syndrome - PS600118 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Warburg micro syndrome 2	AR	3	614225	RAB3GAP2	609275
2q21.3	Warburg micro syndrome 1	AR	3	600118	RAB3GAP1	602536
10p12.1	Warburg micro syndrome 3	AR	3	614222	RAB18	602207
20p13	Warburg micro syndrome 4	AR	3	615663	TBC1D20	611663

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 2510 DO: 0110718

▲ Close

# 614225. WARBURG MICRO SYNDROME 2; WARBM2
Cytogenetic location: 1q41
Matching terms: 614225
► 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
1q41	Warburg micro syndrome 2	614225	AR	3	RAB3GAP2	609275

▲ Close

Warburg micro syndrome - PS600118 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Warburg micro syndrome 2	AR	3	614225	RAB3GAP2	609275
2q21.3	Warburg micro syndrome 1	AR	3	600118	RAB3GAP1	602536
10p12.1	Warburg micro syndrome 3	AR	3	614222	RAB18	602207
20p13	Warburg micro syndrome 4	AR	3	615663	TBC1D20	611663

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 2510 DO: 0110717

▲ Close

* 611663. TBC1 DOMAIN FAMILY, MEMBER 20; TBC1D20
Cytogenetic location: 20p13, Genomic coordinates (GRCh38): 20:435,480-462,533
Matching terms: 611663
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
20p13	Warburg micro syndrome 4	615663	AR	3

▲ Close

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 MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

▲ Close

# 615663. WARBURG MICRO SYNDROME 4; WARBM4
Cytogenetic location: 20p13
Matching terms: 615663
► 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
20p13	Warburg micro syndrome 4	615663	AR	3	TBC1D20	611663

▲ Close

Warburg micro syndrome - PS600118 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Warburg micro syndrome 2	AR	3	614225	RAB3GAP2	609275
2q21.3	Warburg micro syndrome 1	AR	3	600118	RAB3GAP1	602536
10p12.1	Warburg micro syndrome 3	AR	3	614222	RAB18	602207
20p13	Warburg micro syndrome 4	AR	3	615663	TBC1D20	611663

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 2510 DO: 0110719

▲ Close

# 212720. MARTSOLF SYNDROME 1; MARTS1
Cytogenetic location: 1q41
Matching terms: 212720
► 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
1q41	Martsolf syndrome 1	212720	AR	3	RAB3GAP2	609275

▲ Close

Martsolf syndrome - PS212720 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q41	Martsolf syndrome 1	AR	3	212720	RAB3GAP2	609275
2q21.3	Martsolf syndrome 2	AR	3	619420	RAB3GAP1	602536

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
SNOMEDCT: 722380003 ORPHA: 1387 DO: 0111586

▲ Close

* 602207. RAS-ASSOCIATED PROTEIN RAB18; RAB18
Cytogenetic location: 10p12.1, Genomic coordinates (GRCh38): 10:27,504,304-27,542,239
Matching terms: 602207
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
10p12.1	Warburg micro syndrome 3	614222	AR	3

▲ Close

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 Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

▲ Close

* 602536. RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1
Cytogenetic location: 2q21.3, Genomic coordinates (GRCh38): 2:135,052,292-135,176,396
Matching terms: 602536
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q21.3	Martsolf syndrome 2	619420	AR	3
2q21.3	Warburg micro syndrome 1	600118	AR	3

▲ Close

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 NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

▲ Close

Search: 212720 600118 602207 602536 609275 611663 614222 614225 615663 (Search in: MIM number)

Results: 9 entries.

# 600118. WARBURG MICRO SYNDROME 1; WARBM1
Cytogenetic location: 2q21.3
Matching terms: 600118

* 609275. RAB3 GTPase-ACTIVATING PROTEIN, NONCATALYTIC SUBUNIT; RAB3GAP2
Cytogenetic location: 1q41, Genomic coordinates (GRCh38): 1:220,148,293-220,272,453
Matching terms: 609275

# 614222. WARBURG MICRO SYNDROME 3; WARBM3
Cytogenetic location: 10p12.1
Matching terms: 614222

# 614225. WARBURG MICRO SYNDROME 2; WARBM2
Cytogenetic location: 1q41
Matching terms: 614225

* 611663. TBC1 DOMAIN FAMILY, MEMBER 20; TBC1D20
Cytogenetic location: 20p13, Genomic coordinates (GRCh38): 20:435,480-462,533
Matching terms: 611663

# 615663. WARBURG MICRO SYNDROME 4; WARBM4
Cytogenetic location: 20p13
Matching terms: 615663

# 212720. MARTSOLF SYNDROME 1; MARTS1
Cytogenetic location: 1q41
Matching terms: 212720

* 602207. RAS-ASSOCIATED PROTEIN RAB18; RAB18
Cytogenetic location: 10p12.1, Genomic coordinates (GRCh38): 10:27,504,304-27,542,239
Matching terms: 602207

* 602536. RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1
Cytogenetic location: 2q21.3, Genomic coordinates (GRCh38): 2:135,052,292-135,176,396
Matching terms: 602536

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM^® and Online Mendelian Inheritance in Man^® are registered trademarks of the Johns Hopkins University.
Copyright^® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025