Entry Search - 118502 118504 118507 122560 600513 600928 601485 603204 605375 607072 608167 608965 614191 615005

Search: '118502 118504 118507 122560 600513 600928 601485 603204 605375 607072 608167 608965 614191 615005 (Search in: MIM number)'

Results: 14 entries.

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* 118502. CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; CHRNA2
Cytogenetic location: 8p21.2, Genomic coordinates (GRCh38): 8:27,459,756-27,479,261
Matching terms: 118502
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8p21.2	Epilepsy, nocturnal frontal lobe, type 4	610353	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 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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* 118504. CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4
Cytogenetic location: 20q13.33, Genomic coordinates (GRCh38): 20:63,343,223-63,361,349
Matching terms: 118504
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
20q13.33	{Nicotine addiction, susceptibility to}	188890		3
20q13.33	Epilepsy, nocturnal frontal lobe, 1	600513	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 OrthoDB Wormbase Gene WBGene00006765 WBGene00006774 WBGene00006797 ZFin	Cellular Pathways KEGG Reactome

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* 118507. CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2; CHRNB2
Cytogenetic location: 1q21.3, Genomic coordinates (GRCh38): 1:154,567,778-154,580,013
Matching terms: 118507
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q21.3	Epilepsy, nocturnal frontal lobe, 3	605375		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 FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00000047 WBGene00006774 WBGene00006797 ZFin	Cellular Pathways KEGG Reactome

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* 122560. CORTICOTROPIN-RELEASING HORMONE; CRH
Cytogenetic location: 8q13.1, Genomic coordinates (GRCh38): 8:66,176,376-66,178,464
Matching terms: 122560
► 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 ClinGen Validity GTR	Variation ClinVar 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 KEGG Reactome

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* 601485. SYNTAXIN 1B; STX1B
Cytogenetic location: 16p11.2, Genomic coordinates (GRCh38): 16:30,989,256-31,010,638
Matching terms: 601485
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
16p11.2	Generalized epilepsy with febrile seizures plus, type 9	616172	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 OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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% 603204. EPILEPSY, NOCTURNAL FRONTAL LOBE, 2; ENFL2
Cytogenetic location: 15q24, Genomic coordinates (GRCh38): 15:72,400,001-78,000,000
Matching terms: 603204
► Gene-Phenotype Relationships ► Phenotypic Series ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q24	Epilepsy, nocturnal frontal lobe, type 2	603204	AD	2

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Epilepsy, nocturnal frontal lobe - PS600513 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Epilepsy, nocturnal frontal lobe, 3		3	605375	CHRNB2	118507
8p21.2	Epilepsy, nocturnal frontal lobe, type 4	AD	3	610353	CHRNA2	118502
9q34.3	Epilepsy nocturnal frontal lobe, 5	AD	3	615005	KCNT1	608167
15q24	Epilepsy, nocturnal frontal lobe, type 2	AD	2	603204	ENFL2	603204
20q13.33	Epilepsy, nocturnal frontal lobe, 1	AD	3	600513	CHRNA4	118504

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Links
Testing GTR EuroGentest	Gene Info BioGPS KEGG NCBI Gene	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR GARD OrphaNet

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ICD+
ORPHA: 98784 DO: 0060683

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* 607072. NPR2-LIKE PROTEIN, GATOR1 COMPLEX SUBUNIT; NPRL2
Cytogenetic location: 3p21.31, Genomic coordinates (GRCh38): 3:50,347,330-50,350,775
Matching terms: 607072
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3p21.31	Epilepsy, familial focal, with variable foci 2	617116	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 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 ZFin	Cellular Pathways KEGG Reactome

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# 605375. EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3
Cytogenetic location: 1q21.3
Matching terms: 605375
► 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
1q21.3	Epilepsy, nocturnal frontal lobe, 3	605375		3	CHRNB2	118507

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Epilepsy, nocturnal frontal lobe - PS600513 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Epilepsy, nocturnal frontal lobe, 3		3	605375	CHRNB2	118507
8p21.2	Epilepsy, nocturnal frontal lobe, type 4	AD	3	610353	CHRNA2	118502
9q34.3	Epilepsy nocturnal frontal lobe, 5	AD	3	615005	KCNT1	608167
15q24	Epilepsy, nocturnal frontal lobe, type 2	AD	2	603204	ENFL2	603204
20q13.33	Epilepsy, nocturnal frontal lobe, 1	AD	3	600513	CHRNA4	118504

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 98784 DO: 0060684

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* 608167. POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 1; KCNT1
Cytogenetic location: 9q34.3, Genomic coordinates (GRCh38): 9:135,702,185-135,795,502
Matching terms: 608167
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9q34.3	Developmental and epileptic encephalopathy 14	614959	AD	3
9q34.3	Epilepsy nocturnal frontal lobe, 5	615005	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 FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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10:

* 608965. CALCIUM-BINDING PROTEIN 4; CABP4
Cytogenetic location: 11q13.2, Genomic coordinates (GRCh38): 11:67,452,403-67,461,752
Matching terms: 608965
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11q13.2	Cone-rod synaptic disorder, congenital nonprogressive	610427	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 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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Search: 118502 118504 118507 122560 600513 600928 601485 603204 605375 607072 608167 608965 614191 615005 (Search in: MIM number)

Results: 14 entries.

* 118502. CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; CHRNA2
Cytogenetic location: 8p21.2, Genomic coordinates (GRCh38): 8:27,459,756-27,479,261
Matching terms: 118502

* 118504. CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4
Cytogenetic location: 20q13.33, Genomic coordinates (GRCh38): 20:63,343,223-63,361,349
Matching terms: 118504

* 118507. CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2; CHRNB2
Cytogenetic location: 1q21.3, Genomic coordinates (GRCh38): 1:154,567,778-154,580,013
Matching terms: 118507

* 122560. CORTICOTROPIN-RELEASING HORMONE; CRH
Cytogenetic location: 8q13.1, Genomic coordinates (GRCh38): 8:66,176,376-66,178,464
Matching terms: 122560

* 601485. SYNTAXIN 1B; STX1B
Cytogenetic location: 16p11.2, Genomic coordinates (GRCh38): 16:30,989,256-31,010,638
Matching terms: 601485

% 603204. EPILEPSY, NOCTURNAL FRONTAL LOBE, 2; ENFL2
Cytogenetic location: 15q24, Genomic coordinates (GRCh38): 15:72,400,001-78,000,000
Matching terms: 603204

* 607072. NPR2-LIKE PROTEIN, GATOR1 COMPLEX SUBUNIT; NPRL2
Cytogenetic location: 3p21.31, Genomic coordinates (GRCh38): 3:50,347,330-50,350,775
Matching terms: 607072

# 605375. EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3
Cytogenetic location: 1q21.3
Matching terms: 605375

* 608167. POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 1; KCNT1
Cytogenetic location: 9q34.3, Genomic coordinates (GRCh38): 9:135,702,185-135,795,502
Matching terms: 608167

10:

* 608965. CALCIUM-BINDING PROTEIN 4; CABP4
Cytogenetic location: 11q13.2, Genomic coordinates (GRCh38): 11:67,452,403-67,461,752
Matching terms: 608965

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