Entry Search - 231300 600221 600975 601771 602091 613085 613086 617272

Search: '231300 600221 600975 601771 602091 613085 613086 617272 (Search in: MIM number)'

Results: 8 entries.

# 231300. GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
Cytogenetic location: 2p22.2
Matching terms: 231300
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2p22.2	Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset	231300	AR	3	CYP1B1	601771

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Links
Testing GTR EuroGentest Congenital glaucoma Juvenile glaucoma	Clinical Resources Clinical Trials EuroGentest Congenital glaucoma Juvenile glaucoma Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Congenital glaucoma Juvenile glaucoma	Animal Models Alliance Genome MGI Mouse Phenotype OMIA	Cell Lines Coriell

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ICD+
SNOMEDCT: 204113001, 413728006 ICD10CM: Q15.0 ICD9CM: 743.2, 743.20 ORPHA: 98976, 98977 DO: 11211

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% 613085. GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C
Cytogenetic location: 14q24.3, Genomic coordinates (GRCh38): 14:73,300,001-78,800,000
Matching terms: 613085
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q24.3	Glaucoma 3, primary congenital, C	613085		2

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Links
Testing EuroGentest	Gene Info BioGPS KEGG NCBI Gene	Clinical Resources Clinical Trials EuroGentest Gene Reviews OrphaNet

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ICD+
ORPHA: 98976 DO: 0050593

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# 613086. GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D
Cytogenetic location: 14q24.3
Matching terms: 613086
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
14q24.3	Glaucoma 3, primary congenital, D	613086		3	LTBP2	602091

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome OMIA

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ICD+
ORPHA: 98976 DO: 0050593

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# 617272. GLAUCOMA 3, PRIMARY CONGENITAL, E; GLC3E
Cytogenetic location: 9p21.2
Matching terms: 617272
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
9p21.2	Glaucoma 3, primary congenital, E	617272	AD	3	TEK	600221

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet

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ICD+
ORPHA: 98976

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* 600221. TEK TYROSINE KINASE, ENDOTHELIAL; TEK
Cytogenetic location: 9p21.2, Genomic coordinates (GRCh38): 9:27,109,225-27,230,174
Matching terms: 600221
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9p21.2	Glaucoma 3, primary congenital, E	617272	AD	3
9p21.2	Venous malformations, multiple cutaneous and mucosal	600195	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 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 KEGG Reactome

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ICD+
SNOMEDCT: 699301008

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% 600975. GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B
Cytogenetic location: 1p36.2-p36.1, Genomic coordinates (GRCh38): 1:7,100,001-27,600,000
Matching terms: 600975
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p36.2-p36.1	Glaucoma 3, primary infantile, B	600975	AR	2

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Links
Testing GTR EuroGentest	Gene Info BioGPS KEGG NCBI Gene	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models OMIA

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ICD+
ORPHA: 98976

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* 601771. CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
Cytogenetic location: 2p22.2, Genomic coordinates (GRCh38): 2:38,067,509-38,076,151
Matching terms: 601771
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p22.2	Anterior segment dysgenesis 6, multiple subtypes	617315	AR	3
2p22.2	Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset	231300	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 NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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* 602091. LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2
Cytogenetic location: 14q24.3, Genomic coordinates (GRCh38): 14:74,498,183-74,612,237
Matching terms: 602091
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q24.3	?Weill-Marchesani syndrome 3, recessive	614819	AR	3
	Glaucoma 3, primary congenital, D	613086		3
	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	251750	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB	Cellular Pathways Reactome

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Search: 231300 600221 600975 601771 602091 613085 613086 617272 (Search in: MIM number)

Results: 8 entries.

# 231300. GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
Cytogenetic location: 2p22.2
Matching terms: 231300

% 613085. GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C
Cytogenetic location: 14q24.3, Genomic coordinates (GRCh38): 14:73,300,001-78,800,000
Matching terms: 613085

# 613086. GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D
Cytogenetic location: 14q24.3
Matching terms: 613086

# 617272. GLAUCOMA 3, PRIMARY CONGENITAL, E; GLC3E
Cytogenetic location: 9p21.2
Matching terms: 617272

* 600221. TEK TYROSINE KINASE, ENDOTHELIAL; TEK
Cytogenetic location: 9p21.2, Genomic coordinates (GRCh38): 9:27,109,225-27,230,174
Matching terms: 600221

% 600975. GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B
Cytogenetic location: 1p36.2-p36.1, Genomic coordinates (GRCh38): 1:7,100,001-27,600,000
Matching terms: 600975

* 601771. CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
Cytogenetic location: 2p22.2, Genomic coordinates (GRCh38): 2:38,067,509-38,076,151
Matching terms: 601771

* 602091. LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2
Cytogenetic location: 14q24.3, Genomic coordinates (GRCh38): 14:74,498,183-74,612,237
Matching terms: 602091

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