Entry Search - 104200 120070 120131 203780 301050 303630 620536

Search: '104200 120070 120131 203780 301050 303630 620536 (Search in: MIM number)'

Results: 7 entries.

# 203780. ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2
Cytogenetic location: 2q36.3
Matching terms: 203780
► 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
2q36.3	Alport syndrome 2, autosomal recessive	203780	AR	3	COL4A4	120131

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Alport syndrome - PS301050 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q36.3	Alport syndrome 2, autosomal recessive	AR	3	203780	COL4A4	120131
2q36.3	Alport syndrome 3A, autosomal dominant	AD	3	104200	COL4A3	120070
2q36.3	Alport syndrome 3B, autosomal recessive	AR	3	620536	COL4A3	120070
Xq22.3	Alport syndrome 1, X-linked	XLD	3	301050	COL4A5	303630

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Links
Testing GTR EuroGentest Alport syndrome Autosomal recessive Alport…	Clinical Resources Clinical Trials EuroGentest Alport syndrome Autosomal recessive Alport… Gene Reviews GTR OrphaNet Alport syndrome Autosomal recessive Alport…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
ORPHA: 63, 88919 DO: 0110033

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# 301050. ALPORT SYNDROME 1, X-LINKED; ATS1
Cytogenetic location: Xq22.3
Matching terms: 301050
► 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
Xq22.3	Alport syndrome 1, X-linked	301050	XLD	3	COL4A5	303630

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Alport syndrome - PS301050 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q36.3	Alport syndrome 2, autosomal recessive	AR	3	203780	COL4A4	120131
2q36.3	Alport syndrome 3A, autosomal dominant	AD	3	104200	COL4A3	120070
2q36.3	Alport syndrome 3B, autosomal recessive	AR	3	620536	COL4A3	120070
Xq22.3	Alport syndrome 1, X-linked	XLD	3	301050	COL4A5	303630

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Links
Testing GTR EuroGentest Alport syndrome X-linked Alport syndrome	Clinical Resources Clinical Trials EuroGentest Alport syndrome X-linked Alport syndrome Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Alport syndrome X-linked Alport syndrome POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 717768004 ORPHA: 63, 88917 DO: 0110034

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# 104200. ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT; ATS3A
Cytogenetic location: 2q36.3
Matching terms: 104200
► 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
2q36.3	Alport syndrome 3A, autosomal dominant	104200	AD	3	COL4A3	120070

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Alport syndrome - PS301050 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q36.3	Alport syndrome 2, autosomal recessive	AR	3	203780	COL4A4	120131
2q36.3	Alport syndrome 3A, autosomal dominant	AD	3	104200	COL4A3	120070
2q36.3	Alport syndrome 3B, autosomal recessive	AR	3	620536	COL4A3	120070
Xq22.3	Alport syndrome 1, X-linked	XLD	3	301050	COL4A5	303630

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Links
Testing GTR EuroGentest Alport syndrome Autosomal dominant Alport …	Clinical Resources Clinical Trials EuroGentest Alport syndrome Autosomal dominant Alport … Gene Reviews GTR OrphaNet Alport syndrome Autosomal dominant Alport …	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 63, 88918 DO: 0110032

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* 120070. COLLAGEN, TYPE IV, ALPHA-3; COL4A3
TUMSTATIN, INCLUDED
Cytogenetic location: 2q36.3, Genomic coordinates (GRCh38): 2:227,164,624-227,314,792
Matching terms: 120070
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q36.3	Alport syndrome 3A, autosomal dominant	104200	AD	3
	Alport syndrome 3B, autosomal recessive	620536	AR	3
	Hematuria, benign familial, 2	620320	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 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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* 120131. COLLAGEN, TYPE IV, ALPHA-4; COL4A4
Cytogenetic location: 2q36.3, Genomic coordinates (GRCh38): 2:226,967,360-227,164,488
Matching terms: 120131
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q36.3	Alport syndrome 2, autosomal recessive	203780	AR	3
2q36.3	Hematuria, familial benign, 1	141200	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 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 ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 236418003

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* 303630. COLLAGEN, TYPE IV, ALPHA-5; COL4A5
Cytogenetic location: Xq22.3, Genomic coordinates (GRCh38): X:108,439,838-108,697,545
Matching terms: 303630
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xq22.3	Alport syndrome 1, X-linked	301050	XLD	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 Collagen, type IV, alpha 5… ALPORT syndrome and COL4A5… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene WBGene00001263 WBGene00002280 ZFin	Cellular Pathways KEGG Reactome

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# 620536. ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE; ATS3B
Cytogenetic location: 2q36.3
Matching terms: 620536
► 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
2q36.3	Alport syndrome 3B, autosomal recessive	620536	AR	3	COL4A3	120070

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Alport syndrome - PS301050 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q36.3	Alport syndrome 2, autosomal recessive	AR	3	203780	COL4A4	120131
2q36.3	Alport syndrome 3A, autosomal dominant	AD	3	104200	COL4A3	120070
2q36.3	Alport syndrome 3B, autosomal recessive	AR	3	620536	COL4A3	120070
Xq22.3	Alport syndrome 1, X-linked	XLD	3	301050	COL4A5	303630

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

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ICD+
ORPHA: 88919

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Search: 104200 120070 120131 203780 301050 303630 620536 (Search in: MIM number)

Results: 7 entries.

# 203780. ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2
Cytogenetic location: 2q36.3
Matching terms: 203780

# 301050. ALPORT SYNDROME 1, X-LINKED; ATS1
Cytogenetic location: Xq22.3
Matching terms: 301050

# 104200. ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT; ATS3A
Cytogenetic location: 2q36.3
Matching terms: 104200

* 120070. COLLAGEN, TYPE IV, ALPHA-3; COL4A3
TUMSTATIN, INCLUDED
Cytogenetic location: 2q36.3, Genomic coordinates (GRCh38): 2:227,164,624-227,314,792
Matching terms: 120070

* 120131. COLLAGEN, TYPE IV, ALPHA-4; COL4A4
Cytogenetic location: 2q36.3, Genomic coordinates (GRCh38): 2:226,967,360-227,164,488
Matching terms: 120131

* 303630. COLLAGEN, TYPE IV, ALPHA-5; COL4A5
Cytogenetic location: Xq22.3, Genomic coordinates (GRCh38): X:108,439,838-108,697,545
Matching terms: 303630

# 620536. ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE; ATS3B
Cytogenetic location: 2q36.3
Matching terms: 620536

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