Entry Search - 137142 137192 176270 182279 600161 600233 601491 601623 602117 603856 603857 605283 605436 605837 605855 609837 610922 611215 611409

Search: '137142 137192 176270 182279 600161 600233 601491 601623 602117 603856 603857 605283 605436 605837 605855 609837 610922 611215 611409 (Search in: MIM number)'

Results: 19 entries.

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* 605283. MAGE-LIKE 2; MAGEL2
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:23,643,549-23,647,867
Matching terms: 605283
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q11.2	Schaaf-Yang syndrome	615547	AD	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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 1229946007

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* 605436. SMALL NUCLEOLAR RNA, C/D BOX, 116-1; SNORD116-1
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:25,051,476-25,051,572
Matching terms: 605436
► Links

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein Human Protein Atlas	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar gnomAD GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome MARRVEL NCBI Orthologs OrthoDB

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* 605837. HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2
Cytogenetic location: 15q13.1, Genomic coordinates (GRCh38): 15:28,111,040-28,322,179
Matching terms: 605837
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q13.1	[Skin/hair/eye pigmentation 1, blond/brown hair]	227220	AR	3
	[Skin/hair/eye pigmentation 1, blue/nonblue eyes]	227220	AR	3
	Intellectual developmental disorder, autosomal recessive 38	615516	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 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 ZFin	Cellular Pathways KEGG Reactome

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* 605855. ATPase, PHOSPHOLIPID-TRANSPORTING, 10A; ATP10A
Cytogenetic location: 15q12, Genomic coordinates (GRCh38): 15:25,672,237-25,865,088
Matching terms: 605855
► Links

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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00012360 WBGene00020784 ZFin	Cellular Pathways Reactome

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* 609837. SMALL NUCLEOLAR RNA, C/D BOX, 115-1; SNORD115-1
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:25,170,723-25,170,804
Matching terms: 609837
► Links

Links
Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein Human Protein Atlas	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL NCBI Gene UCSC	Variation ClinVar gnomAD GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome MARRVEL NCBI Orthologs OrthoDB

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* 610922. NUCLEAR PORE ASSOCIATED PROTEIN 1; NPAP1
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:24,675,775-24,683,393
Matching terms: 610922
► Links

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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome MARRVEL NCBI Orthologs OrthoDB	Cellular Pathways Reactome

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* 611215. PRADER-WILLI REGION NONCODING RNA 1; PWRN1
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:24,558,157-24,587,780
Matching terms: 611215
► Links

Links
Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein Human Protein Atlas	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome MARRVEL NCBI Orthologs OrthoDB

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* 611409. OCA2 MELANOSOMAL TRANSMEMBRANE PROTEIN; OCA2
Cytogenetic location: 15q12-q13.1, Genomic coordinates (GRCh38): 15:27,719,008-28,099,315
Matching terms: 611409
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q12-q13.1	[Skin/hair/eye pigmentation 1, blond/brown hair]	227220	AR	3
	[Skin/hair/eye pigmentation 1, blue/nonblue eyes]	227220	AR	3
	Albinism, brown oculocutaneous	203200	AR	3
	Albinism, oculocutaneous, type II	203200	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 Albinism Database Mutations of the P-Gene NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 11160000, 26336006 ICD10CM: E70.321

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* 600161. PRADER-WILLI/ANGELMAN REGION RNA 1; PWAR1
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:25,135,642-25,138,053
Matching terms: 600161
► Links

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl NCBI RefSeq UCSC Genome Browser	Protein Human Protein Atlas	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar gnomAD GWAS Central NHLBI EVS	Animal Models Alliance Genome MARRVEL NCBI Orthologs OrthoDB

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10:

* 600233. GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-3; GABRG3
Cytogenetic location: 15q12, Genomic coordinates (GRCh38): 15:26,971,181-27,541,984
Matching terms: 600233
► Links

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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00008551 WBGene00013914 ZFin	Cellular Pathways KEGG Reactome

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Search: 137142 137192 176270 182279 600161 600233 601491 601623 602117 603856 603857 605283 605436 605837 605855 609837 610922 611215 611409 (Search in: MIM number)

Results: 19 entries.

* 605283. MAGE-LIKE 2; MAGEL2
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:23,643,549-23,647,867
Matching terms: 605283

* 605436. SMALL NUCLEOLAR RNA, C/D BOX, 116-1; SNORD116-1
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:25,051,476-25,051,572
Matching terms: 605436

* 605837. HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2
Cytogenetic location: 15q13.1, Genomic coordinates (GRCh38): 15:28,111,040-28,322,179
Matching terms: 605837

* 605855. ATPase, PHOSPHOLIPID-TRANSPORTING, 10A; ATP10A
Cytogenetic location: 15q12, Genomic coordinates (GRCh38): 15:25,672,237-25,865,088
Matching terms: 605855

* 609837. SMALL NUCLEOLAR RNA, C/D BOX, 115-1; SNORD115-1
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:25,170,723-25,170,804
Matching terms: 609837

* 610922. NUCLEAR PORE ASSOCIATED PROTEIN 1; NPAP1
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:24,675,775-24,683,393
Matching terms: 610922

* 611215. PRADER-WILLI REGION NONCODING RNA 1; PWRN1
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:24,558,157-24,587,780
Matching terms: 611215

* 611409. OCA2 MELANOSOMAL TRANSMEMBRANE PROTEIN; OCA2
Cytogenetic location: 15q12-q13.1, Genomic coordinates (GRCh38): 15:27,719,008-28,099,315
Matching terms: 611409

* 600161. PRADER-WILLI/ANGELMAN REGION RNA 1; PWAR1
Cytogenetic location: 15q11.2, Genomic coordinates (GRCh38): 15:25,135,642-25,138,053
Matching terms: 600161

10:

* 600233. GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-3; GABRG3
Cytogenetic location: 15q12, Genomic coordinates (GRCh38): 15:26,971,181-27,541,984
Matching terms: 600233

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Printed: March 5, 2025