Entry Search - 600512 600514 604619 607129 616436

Search: '600512 600514 604619 607129 616436 (Search in: MIM number)'

Results: 5 entries.

# 616436. EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7
Cytogenetic location: 7q22.1
Matching terms: 616436
► 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
7q22.1	{Epilepsy, familial temporal lobe, 7}	616436	AD	3	RELN	600514

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Epilepsy, familial temporal lobe - PS600512 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q25-q26	Epilepsy, familial temporal lobe, 6	AD	2	615697	ETL6	615697
4q13.2-q21.3	Epilepsy, familial temporal lobe, 3	AD	2	611630	ETL3	611630
7q22.1	{Epilepsy, familial temporal lobe, 7}	AD	3	616436	RELN	600514
8q13.2	Epilepsy, familial temporal lobe, 5	AD, AR	3	614417	CPA6	609562
9q21-q22	Epilepsy, familial temporal lobe, 4	AD	2	611631	ETL4	611631
10q23.33	Epilepsy, familial temporal lobe, 1	AD	3	600512	LGI1	604619
11q13.2	?Epilepsy, familial temporal lobe, 8	AD	3	616461	GAL	137035
12q22-q23.3	Epilepsy, familial temporal lobe, 2	AD	2	608096	ETL2	608096

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

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ICD+
ORPHA: 101046 DO: 0060751

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# 600512. EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
Cytogenetic location: 10q23.33
Matching terms: 600512
► 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
10q23.33	Epilepsy, familial temporal lobe, 1	600512	AD	3	LGI1	604619

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Epilepsy, familial temporal lobe - PS600512 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q25-q26	Epilepsy, familial temporal lobe, 6	AD	2	615697	ETL6	615697
4q13.2-q21.3	Epilepsy, familial temporal lobe, 3	AD	2	611630	ETL3	611630
7q22.1	{Epilepsy, familial temporal lobe, 7}	AD	3	616436	RELN	600514
8q13.2	Epilepsy, familial temporal lobe, 5	AD, AR	3	614417	CPA6	609562
9q21-q22	Epilepsy, familial temporal lobe, 4	AD	2	611631	ETL4	611631
10q23.33	Epilepsy, familial temporal lobe, 1	AD	3	600512	LGI1	604619
11q13.2	?Epilepsy, familial temporal lobe, 8	AD	3	616461	GAL	137035
12q22-q23.3	Epilepsy, familial temporal lobe, 2	AD	2	608096	ETL2	608096

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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	Cell Lines Coriell

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ICD+
SNOMEDCT: 784377008 ORPHA: 101046 DO: 0060748

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* 600514. REELIN; RELN
Cytogenetic location: 7q22.1, Genomic coordinates (GRCh38): 7:103,471,789-103,989,658
Matching terms: 600514
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7q22.1	{Epilepsy, familial temporal lobe, 7}	616436	AD	3
7q22.1	Lissencephaly 2 (Norman-Roberts type)	257320	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 IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 717977003

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* 604619. LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1
Cytogenetic location: 10q23.33, Genomic coordinates (GRCh38): 10:93,757,936-93,798,159
Matching terms: 604619
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
10q23.33	Epilepsy, familial temporal lobe, 1	600512	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 IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 784377008

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* 607129. MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING, 1; MICAL1
Cytogenetic location: 6q21, Genomic coordinates (GRCh38): 6:109,444,062-109,465,968
Matching terms: 607129
► 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 Monarch NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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Search: 600512 600514 604619 607129 616436 (Search in: MIM number)

Results: 5 entries.

# 616436. EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7
Cytogenetic location: 7q22.1
Matching terms: 616436

# 600512. EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
Cytogenetic location: 10q23.33
Matching terms: 600512

* 600514. REELIN; RELN
Cytogenetic location: 7q22.1, Genomic coordinates (GRCh38): 7:103,471,789-103,989,658
Matching terms: 600514

* 604619. LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1
Cytogenetic location: 10q23.33, Genomic coordinates (GRCh38): 10:93,757,936-93,798,159
Matching terms: 604619

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