Entry Search - 134637 134638 601762 601859 603909

Search: '134637 134638 601762 601859 603909 (Search in: MIM number)'

Results: 5 entries.

* 601762. CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10
CASPASE 10, ISOFORM B, INCLUDED; CASP10B, INCLUDED
Cytogenetic location: 2q33.1, Genomic coordinates (GRCh38): 2:201,183,141-201,229,406
Matching terms: 601762
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q33.1	Autoimmune lymphoproliferative syndrome, type II	603909	AD	3
	Gastric cancer, somatic	613659		3
	Lymphoma, non-Hodgkin, somatic	605027		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 gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs CASP10base: Mutation regis… CCHMC - Human Genetics Mut… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase MARRVEL NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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# 601859. AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, INCLUDED; ALPS1A, INCLUDED
Cytogenetic locations: 1q24.3, 10q23.31,
Matching terms: 601859
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q24.3	Autoimmune lymphoproliferative syndrome, type IB	601859	AD	3	FASLG	134638
10q23.31	Autoimmune lymphoproliferative syndrome, type IA	601859	AD	3	FAS	134637
10q23.31	{Autoimmune lymphoproliferative syndrome}	601859	AD	3	FAS	134637

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

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ICD+
SNOMEDCT: 702444009 ICD10CM: D89.82 ICD9CM: 279.41 ORPHA: 3261 DO: 6688

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* 134637. FAS CELL SURFACE DEATH RECEPTOR; FAS
Cytogenetic location: 10q23.31, Genomic coordinates (GRCh38): 10:88,964,050-89,017,059
Matching terms: 134637
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
10q23.31	{Autoimmune lymphoproliferative syndrome}	601859	AD	3
	Autoimmune lymphoproliferative syndrome, type IA	601859	AD	3
	Squamous cell carcinoma, burn scar-related, somatic			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 MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Autoimmune Lymphoprolifera… CCHMC - Human Genetics Mut… 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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* 134638. FAS LIGAND; FASLG
Cytogenetic location: 1q24.3, Genomic coordinates (GRCh38): 1:172,659,103-172,666,876
Matching terms: 134638
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q24.3	{Lung cancer, susceptibility to}	211980	AD, SMu	3
1q24.3	Autoimmune lymphoproliferative syndrome, type IB	601859	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 gnomAD GWAS Central HGMD Locus Specific DBs FASLGbase: Mutation regist… CCHMC - Human Genetics Mut… NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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# 603909. AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A
Cytogenetic location: 2q33.1
Matching terms: 603909
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2q33.1	Autoimmune lymphoproliferative syndrome, type II	603909	AD	3	CASP10	601762

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 3261 DO: 0110115

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Search: 134637 134638 601762 601859 603909 (Search in: MIM number)

Results: 5 entries.

# 601859. AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, INCLUDED; ALPS1A, INCLUDED
Cytogenetic locations: 1q24.3, 10q23.31,
Matching terms: 601859

* 134637. FAS CELL SURFACE DEATH RECEPTOR; FAS
Cytogenetic location: 10q23.31, Genomic coordinates (GRCh38): 10:88,964,050-89,017,059
Matching terms: 134637

* 134638. FAS LIGAND; FASLG
Cytogenetic location: 1q24.3, Genomic coordinates (GRCh38): 1:172,659,103-172,666,876
Matching terms: 134638

# 603909. AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A
Cytogenetic location: 2q33.1
Matching terms: 603909

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