Entry Search - 203100 606933 606952

Search: '203100 606933 606952 (Search in: MIM number)'

Results: 3 entries.

* 606933. TYROSINASE; TYR
Cytogenetic location: 11q14.3, Genomic coordinates (GRCh38): 11:89,177,875-89,295,759
Matching terms: 606933
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11q14.3	[Skin/hair/eye pigmentation 3, blue/green eyes]	601800	AD	3
	[Skin/hair/eye pigmentation 3, light/dark/freckling skin]	601800	AD	3
	{Melanoma, cutaneous malignant, susceptibility to, 8}	601800	AD	3
	Albinism, oculocutaneous, type IA	203100	AR	3
	Albinism, oculocutaneous, type IB	606952	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 Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Albinism Database Mutations of the Tyrosinas… NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene WBGene00009001 WBGene00010661 WBGene00015332 WBGene00016419 WBGene00021553 ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 6483008, 82342003 ICD10CM: E70.320

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# 606952. ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED
Cytogenetic location: 11q14.3
Matching terms: 606952
► 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
11q14.3	Albinism, oculocutaneous, type IB	606952	AR	3	TYR	606933

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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 IB	AR	3	606952	TYR	606933
11q14.3	Albinism, oculocutaneous, type IA	AR	3	203100	TYR	606933
13q32.1	Oculocutaneous albinism, type VIII	AR	3	619165	DCT	191275
15q12-q13.1	Albinism, oculocutaneous, type II	AR	3	203200	OCA2	611409
15q12-q13.1	Albinism, brown oculocutaneous	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 Oculocutaneous albinism ty… Temperature-sensitive ocul… Oculocutaneous albinism ty…	Clinical Resources Clinical Trials EuroGentest Oculocutaneous albinism ty… Temperature-sensitive ocul… Oculocutaneous albinism ty… Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Oculocutaneous albinism ty… Temperature-sensitive ocul… Oculocutaneous albinism ty…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
SNOMEDCT: 82342003 ORPHA: 352731, 352737, 79434 DO: 0070095

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# 203100. ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A
Cytogenetic location: 11q14.3
Matching terms: 203100
► 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
11q14.3	Albinism, oculocutaneous, type IA	203100	AR	3	TYR	606933

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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 IB	AR	3	606952	TYR	606933
11q14.3	Albinism, oculocutaneous, type IA	AR	3	203100	TYR	606933
13q32.1	Oculocutaneous albinism, type VIII	AR	3	619165	DCT	191275
15q12-q13.1	Albinism, oculocutaneous, type II	AR	3	203200	OCA2	611409
15q12-q13.1	Albinism, brown oculocutaneous	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 Oculocutaneous albinism ty… Oculocutaneous albinism ty…	Clinical Resources Clinical Trials EuroGentest Oculocutaneous albinism ty… Oculocutaneous albinism ty… Gene Reviews GTR OrphaNet Oculocutaneous albinism ty… Oculocutaneous albinism ty… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 6483008, 765146000 ICD10CM: E70.320 ORPHA: 352731, 79431 DO: 0070094

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Search: 203100 606933 606952 (Search in: MIM number)

Results: 3 entries.

* 606933. TYROSINASE; TYR
Cytogenetic location: 11q14.3, Genomic coordinates (GRCh38): 11:89,177,875-89,295,759
Matching terms: 606933

# 606952. ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED
Cytogenetic location: 11q14.3
Matching terms: 606952

# 203100. ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A
Cytogenetic location: 11q14.3
Matching terms: 203100

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