Entry Search - 224120 607465 615626 615631

Search: '224120 607465 615626 615631 (Search in: MIM number)'

Results: 4 entries.

# 615631. ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDAN1B
Cytogenetic location: 15q14
Matching terms: 615631
► 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
15q14	Dyserythropoietic anemia, congenital, type Ib	615631	AR	3	CDIN1	615626

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Anemia, congenital dyserythropoietic - PS224120 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
12q13.12	Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive	AR	3	619789	RACGAP1	604980
15q14	Dyserythropoietic anemia, congenital, type Ib	AR	3	615631	CDIN1	615626
15q15.2	Dyserythropoietic anemia, congenital, type Ia	AR	3	224120	CDAN1	607465
15q23	Anemia, congenital dyserythropoietic, type IIIA	AD	3	105600	KIF23	605064
19p13.13	Anemia, dyserythropoietic congenital, type IVa	AD	3	613673	KLF1	600599
19p13.13	Anemia, congenital dyserythropoietic, type IVb	AR	3	620969	KLF1	600599
20p11.23	Dyserythropoietic anemia, congenital, type II	AR	3	224100	SEC23B	610512

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Links
Testing GTR EuroGentest Congenital dyserythropoiet… Congenital dyserythropoiet…	Clinical Resources Clinical Trials EuroGentest Congenital dyserythropoiet… Congenital dyserythropoiet… Gene Reviews GTR OrphaNet Congenital dyserythropoiet… Congenital dyserythropoiet…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

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ICD+
ORPHA: 85, 98869 DO: 0111397

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# 224120. ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia; CDAN1A
Cytogenetic location: 15q15.2
Matching terms: 224120
► 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
15q15.2	Dyserythropoietic anemia, congenital, type Ia	224120	AR	3	CDAN1	607465

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Anemia, congenital dyserythropoietic - PS224120 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
12q13.12	Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive	AR	3	619789	RACGAP1	604980
15q14	Dyserythropoietic anemia, congenital, type Ib	AR	3	615631	CDIN1	615626
15q15.2	Dyserythropoietic anemia, congenital, type Ia	AR	3	224120	CDAN1	607465
15q23	Anemia, congenital dyserythropoietic, type IIIA	AD	3	105600	KIF23	605064
19p13.13	Anemia, dyserythropoietic congenital, type IVa	AD	3	613673	KLF1	600599
19p13.13	Anemia, congenital dyserythropoietic, type IVb	AR	3	620969	KLF1	600599
20p11.23	Dyserythropoietic anemia, congenital, type II	AR	3	224100	SEC23B	610512

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Links
Testing GTR EuroGentest Congenital dyserythropoiet… Congenital dyserythropoiet…	Clinical Resources Clinical Trials EuroGentest Congenital dyserythropoiet… Congenital dyserythropoiet… Gene Reviews MedlinePlus Genetics GTR OrphaNet Congenital dyserythropoiet… Congenital dyserythropoiet… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

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ICD+
SNOMEDCT: 59548005 ORPHA: 85, 98869 DO: 0111398

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* 615626. CDAN1-INTERACTING NUCLEASE 1; CDIN1
Cytogenetic location: 15q14, Genomic coordinates (GRCh38): 15:36,579,626-36,810,244
Matching terms: 615626
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q14	Dyserythropoietic anemia, congenital, type Ib	615631	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 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 HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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* 607465. CODANIN 1; CDAN1
Cytogenetic location: 15q15.2, Genomic coordinates (GRCh38): 15:42,723,544-42,737,128
Matching terms: 607465
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q15.2	Dyserythropoietic anemia, congenital, type Ia	224120	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 NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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Search: 224120 607465 615626 615631 (Search in: MIM number)

Results: 4 entries.

# 615631. ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDAN1B
Cytogenetic location: 15q14
Matching terms: 615631

# 224120. ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia; CDAN1A
Cytogenetic location: 15q15.2
Matching terms: 224120

* 615626. CDAN1-INTERACTING NUCLEASE 1; CDIN1
Cytogenetic location: 15q14, Genomic coordinates (GRCh38): 15:36,579,626-36,810,244
Matching terms: 615626

* 607465. CODANIN 1; CDAN1
Cytogenetic location: 15q15.2, Genomic coordinates (GRCh38): 15:42,723,544-42,737,128
Matching terms: 607465

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