Entry Search - 253300 253400 253550 271150 600354 601627 602595 603519

Search: '253300 253400 253550 271150 600354 601627 602595 603519 (Search in: MIM number)'

Results: 8 entries.

* 600354. SURVIVAL OF MOTOR NEURON 1; SMN1
Cytogenetic location: 5q13.2, Genomic coordinates (GRCh38): 5:70,924,941-70,966,375
Matching terms: 600354
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q13.2	Spinal muscular atrophy-1	253300	AR	3
	Spinal muscular atrophy-2	253550	AR	3
	Spinal muscular atrophy-3	253400	AR	3
	Spinal muscular atrophy-4	271150	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 Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 128212001, 54280009, 64383006 ICD10CM: G12.0, G12.1 ICD9CM: 335.0, 335.11

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* 601627. SURVIVAL OF MOTOR NEURON 2; SMN2
Cytogenetic location: 5q13.2, Genomic coordinates (GRCh38): 5:70,049,523-70,090,528
Matching terms: 601627
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q13.2	{Spinal muscular atrophy, type III, modifier of}	253400	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 NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene	Cellular Pathways Reactome

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* 602595. GEM NUCLEAR ORGANELLE-ASSOCIATED PROTEIN 2; GEMIN2
Cytogenetic location: 14q21.1, Genomic coordinates (GRCh38): 14:39,114,323-39,136,973
Matching terms: 602595
► Links

Links
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	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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# 253300. SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
Cytogenetic location: 5q13.2
Matching terms: 253300
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
5q13.2	Spinal muscular atrophy-1	253300	AR	3	SMN1	600354

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Links
Testing GTR EuroGentest Proximal spinal muscular a… Proximal spinal muscular a…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Proximal spinal muscular a… Proximal spinal muscular a… Gene Reviews GTR Newborn Screening GARD Proximal spinal muscular a… Proximal spinal muscular a… OrphaNet Proximal spinal muscular a… Proximal spinal muscular a…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 64383006 ICD10CM: G12.0 ICD9CM: 335.0 ORPHA: 70, 83330 DO: 13137

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# 253400. SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
Cytogenetic locations: 5q13.2, 5q13.2
Matching terms: 253400
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
5q13.2	{Spinal muscular atrophy, type III, modifier of}	253400	AR	3	SMN2	601627
5q13.2	Spinal muscular atrophy-3	253400	AR	3	SMN1	600354

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Links
Testing GTR EuroGentest Proximal spinal muscular a… Proximal spinal muscular a…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Proximal spinal muscular a… Proximal spinal muscular a… Gene Reviews Genetic Alliance GTR Newborn Screening GARD Proximal spinal muscular a… Proximal spinal muscular a… OrphaNet Proximal spinal muscular a… Proximal spinal muscular a…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 54280009 ICD9CM: 335.11 ORPHA: 70, 83419 DO: 12376

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# 253550. SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
Cytogenetic location: 5q13.2
Matching terms: 253550
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
5q13.2	Spinal muscular atrophy-2	253550	AR	3	SMN1	600354

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Links
Testing GTR EuroGentest Proximal spinal muscular a… Proximal spinal muscular a…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Proximal spinal muscular a… Proximal spinal muscular a… Gene Reviews GTR Newborn Screening GARD Proximal spinal muscular a… Proximal spinal muscular a… OrphaNet Proximal spinal muscular a… Proximal spinal muscular a…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 128212001 ORPHA: 70, 83418 DO: 0050530

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# 271150. SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4
Cytogenetic location: 5q13.2
Matching terms: 271150
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
5q13.2	Spinal muscular atrophy-4	271150	AR	3	SMN1	600354

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Links
Testing GTR EuroGentest Proximal spinal muscular a… Proximal spinal muscular a…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Proximal spinal muscular a… Proximal spinal muscular a… Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet Proximal spinal muscular a… Proximal spinal muscular a…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
ICD10CM: G12.1 ORPHA: 70, 83420 DO: 0050529

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* 603519. SURVIVAL MOTOR NEURON DOMAIN-CONTAINING PROTEIN 1; SMNDC1
Cytogenetic location: 10q25.2, Genomic coordinates (GRCh38): 10:110,290,730-110,304,920
Matching terms: 603519
► Links

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 NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central 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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Search: 253300 253400 253550 271150 600354 601627 602595 603519 (Search in: MIM number)

Results: 8 entries.

* 600354. SURVIVAL OF MOTOR NEURON 1; SMN1
Cytogenetic location: 5q13.2, Genomic coordinates (GRCh38): 5:70,924,941-70,966,375
Matching terms: 600354

* 601627. SURVIVAL OF MOTOR NEURON 2; SMN2
Cytogenetic location: 5q13.2, Genomic coordinates (GRCh38): 5:70,049,523-70,090,528
Matching terms: 601627

* 602595. GEM NUCLEAR ORGANELLE-ASSOCIATED PROTEIN 2; GEMIN2
Cytogenetic location: 14q21.1, Genomic coordinates (GRCh38): 14:39,114,323-39,136,973
Matching terms: 602595

# 253300. SPINAL MUSCULAR ATROPHY, TYPE I; SMA1
Cytogenetic location: 5q13.2
Matching terms: 253300

# 253400. SPINAL MUSCULAR ATROPHY, TYPE III; SMA3
Cytogenetic locations: 5q13.2, 5q13.2
Matching terms: 253400

# 253550. SPINAL MUSCULAR ATROPHY, TYPE II; SMA2
Cytogenetic location: 5q13.2
Matching terms: 253550

# 271150. SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4
Cytogenetic location: 5q13.2
Matching terms: 271150

* 603519. SURVIVAL MOTOR NEURON DOMAIN-CONTAINING PROTEIN 1; SMNDC1
Cytogenetic location: 10q25.2, Genomic coordinates (GRCh38): 10:110,290,730-110,304,920
Matching terms: 603519

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Printed: June 1, 2024