Entry Search - 606202 606574

Search: '606202 606574 (Search in: MIM number)'

Results: 2 entries.

* 606202. SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2
Cytogenetic location: 5p13.2, Genomic coordinates (GRCh38): 5:33,944,623-33,984,693
Matching terms: 606202
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5p13.2	[Skin/hair/eye pigmentation 5, black/nonblack hair]	227240	AR	3
	[Skin/hair/eye pigmentation 5, dark/fair skin]	227240	AR	3
	[Skin/hair/eye pigmentation 5, dark/light eyes]	227240	AR	3
	Albinism, oculocutaneous, type IV	606574	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 MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Albinism Database Mutations of the Membrane-… NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene OMIA ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 715632003

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# 606574. ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4
Cytogenetic location: 5p13.2
Matching terms: 606574
► 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
5p13.2	Albinism, oculocutaneous, type IV	606574	AR	3	SLC45A2	606202

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Oculocutaneous albinism - PS203100 - 12 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
4q24	Albinism, oculocutaneous, type V	AR	2	615312	OCA5	615312
5p13.2	Albinism, oculocutaneous, type IV	AR	3	606574	SLC45A2	606202
9p23	Albinism, oculocutaneous, type III	AR	3	203290	TYRP1	115501
10q22.2-q22.3	Albinism, oculocutaneous, type VII	AR	3	615179	LRMDA	614537
11q14.3	Albinism, oculocutaneous, type IA	AR	3	203100	TYR	606933
11q14.3	Albinism, oculocutaneous, type IB	AR	3	606952	TYR	606933
13q32.1	Oculocutaneous albinism, type VIII	AR	3	619165	DCT	191275
15q12-q13.1	Albinism, brown oculocutaneous	AR	3	203200	OCA2	611409
15q12-q13.1	Albinism, oculocutaneous, type II	AR	3	203200	OCA2	611409
15q21.1	Albinism, oculocutaneous, type VI	AR	3	113750	SLC24A5	609802
15q21.1	[Skin/hair/eye pigmentation 4, fair/dark skin]	AR	3	113750	SLC24A5	609802
16q24.3	{Albinism, oculocutaneous, type II, modifier of}	AR	3	203200	MC1R	155555

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Oculocutaneous Albinism Ty… Oculocutaneous Albinism an… Genetic Alliance GTR GARD OrphaNet	Animal Models MGI Mouse Phenotype NCBI HomoloGene OMIA

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ICD+
SNOMEDCT: 715632003 ORPHA: 79435 DO: 0070098

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Search: 606202 606574 (Search in: MIM number)

Results: 2 entries.

* 606202. SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2
Cytogenetic location: 5p13.2, Genomic coordinates (GRCh38): 5:33,944,623-33,984,693
Matching terms: 606202

# 606574. ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4
Cytogenetic location: 5p13.2
Matching terms: 606574

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Printed: May 4, 2024