Entry Search - 138079 142994 176730 189907 600509 600733 600937 601656 601724 603941 604032 604612 606176 607194 610192 612659 618856 618857 618858

Search: '138079 142994 176730 189907 600509 600733 600937 601656 601724 603941 604032 604612 606176 607194 610192 612659 618856 618857 618858 (Search in: MIM number)'

Results: 19 entries.

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# 606176. DIABETES MELLITUS, PERMANENT NEONATAL, 1; PNDM1
Cytogenetic location: 7p13
Matching terms: 606176
► 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
7p13	Diabetes mellitus, permanent neonatal 1	606176	AR	3	GCK	138079

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Diabetes mellitus, permanent neonatal - PS606176 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
7p13	Diabetes mellitus, permanent neonatal 1	AR	3	606176	GCK	138079
11p15.5	Diabetes mellitus, permanent neonatal 4	AD, AR	3	618858	INS	176730
11p15.1	Diabetes, permanent neonatal 2, with or without neurologic features	AD	3	618856	KCNJ11	600937
11p15.1	Diabetes mellitus, permanent neonatal 3, with or without neurologic features	AD, AR	3	618857	ABCC8	600509

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Links
Testing GTR EuroGentest DEND syndrome Isolated permanent neonata…	Clinical Resources Clinical Trials EuroGentest DEND syndrome Isolated permanent neonata… Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet DEND syndrome Isolated permanent neonata… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 79134, 99885 DO: 0060639

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* 142994. MOTOR NEURON AND PANCREAS HOMEOBOX 1; MNX1
Cytogenetic location: 7q36.3, Genomic coordinates (GRCh38): 7:157,004,854-157,010,663
Matching terms: 142994
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7q36.3	Currarino syndrome	176450	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 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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ICD+
SNOMEDCT: 413936007

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* 610192. GLIS FAMILY ZINC FINGER PROTEIN 3; GLIS3
Cytogenetic location: 9p24.2, Genomic coordinates (GRCh38): 9:3,824,127-4,490,465
Matching terms: 610192
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9p24.2	Diabetes mellitus, neonatal, with congenital hypothyroidism	610199	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 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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* 612659. REGULATORY FACTOR X, 6; RFX6
Cytogenetic location: 6q22.1, Genomic coordinates (GRCh38): 6:116,877,242-116,932,161
Matching terms: 612659
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6q22.1	Mitchell-Riley syndrome	615710	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 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 KEGG Reactome

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* 600509. ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8
Cytogenetic location: 11p15.1, Genomic coordinates (GRCh38): 11:17,392,498-17,476,845
Matching terms: 600509
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11p15.1	Diabetes mellitus, noninsulin-dependent	125853	AD	3
	Diabetes mellitus, permanent neonatal 3, with or without neurologic features	618857	AD, AR	3
	Diabetes mellitus, transient neonatal 2	610374	AD	3
	Hyperinsulinemic hypoglycemia, familial, 1	256450	AD, AR	3
	Hypoglycemia of infancy, leucine-sensitive	240800	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 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 KEGG Reactome

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ICD+
SNOMEDCT: 44054006, 609580007, 62151007 ICD10CM: E11

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* 138079. GLUCOKINASE; GCK
Cytogenetic location: 7p13, Genomic coordinates (GRCh38): 7:44,143,213-44,189,439
Matching terms: 138079
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7p13	Diabetes mellitus, noninsulin-dependent, late onset	125853	AD	3
	Diabetes mellitus, permanent neonatal 1	606176	AR	3
	Hyperinsulinemic hypoglycemia, familial, 3	602485	AD	3
	MODY, type II	125851	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 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 KEGG Reactome

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ICD+
SNOMEDCT: 237604008, 44054006 ICD10CM: E11

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* 176730. INSULIN; INS
INS-IGF2 SPLICED READ-THROUGH TRANSCRIPTS, INCLUDED
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:2,159,779-2,161,209
Matching terms: 176730
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11p15.5	Diabetes mellitus, insulin-dependent, 2	125852	AD	3
	Diabetes mellitus, permanent neonatal 4	618858	AD, AR	3
	Hyperproinsulinemia	616214	AD	3
	Maturity-onset diabetes of the young, type 10	613370	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 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: 237613005, 609577006

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* 600733. PANCREAS/DUODENUM HOMEOBOX PROTEIN 1; PDX1
Cytogenetic location: 13q12.2, Genomic coordinates (GRCh38): 13:27,920,000-27,926,313
Matching terms: 600733
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
13q12.2	{Diabetes mellitus, type II, susceptibility to}	125853	AD	3
	MODY, type IV	606392		3
	Pancreatic agenesis 1	260370	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 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: 609571007

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* 600937. POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11
Cytogenetic location: 11p15.1, Genomic coordinates (GRCh38): 11:17,385,248-17,389,346
Matching terms: 600937
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11p15.1	Diabetes mellitus, transient neonatal 3	610582	AD	3
	Diabetes, permanent neonatal 2, with or without neurologic features	618856	AD	3
	Hyperinsulinemic hypoglycemia, familial, 2	601820	AD, AR	3
	Maturity-onset diabetes of the young, type 13	616329	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 WBGene00002149 WBGene00002150 ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 609581006

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10:

* 601656. GATA-BINDING PROTEIN 6; GATA6
Cytogenetic location: 18q11.2, Genomic coordinates (GRCh38): 18:22,169,589-22,202,528
Matching terms: 601656
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
18q11.2	Atrial septal defect 9	614475	AD	3
	Atrioventricular septal defect 5	614474	AD	3
	Pancreatic agenesis and congenital heart defects	600001	AD	3
	Persistent truncus arteriosus	217095		3
	Tetralogy of Fallot	187500	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 DECIPHER gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 61959006, 722206009, 787779000, 86299006 ICD10CM: Q20.0, Q21.3 ICD9CM: 745.0, 745.2

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Search: 138079 142994 176730 189907 600509 600733 600937 601656 601724 603941 604032 604612 606176 607194 610192 612659 618856 618857 618858 (Search in: MIM number)

Results: 19 entries.

# 606176. DIABETES MELLITUS, PERMANENT NEONATAL, 1; PNDM1
Cytogenetic location: 7p13
Matching terms: 606176

* 142994. MOTOR NEURON AND PANCREAS HOMEOBOX 1; MNX1
Cytogenetic location: 7q36.3, Genomic coordinates (GRCh38): 7:157,004,854-157,010,663
Matching terms: 142994

* 610192. GLIS FAMILY ZINC FINGER PROTEIN 3; GLIS3
Cytogenetic location: 9p24.2, Genomic coordinates (GRCh38): 9:3,824,127-4,490,465
Matching terms: 610192

* 612659. REGULATORY FACTOR X, 6; RFX6
Cytogenetic location: 6q22.1, Genomic coordinates (GRCh38): 6:116,877,242-116,932,161
Matching terms: 612659

* 600509. ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8
Cytogenetic location: 11p15.1, Genomic coordinates (GRCh38): 11:17,392,498-17,476,845
Matching terms: 600509

* 138079. GLUCOKINASE; GCK
Cytogenetic location: 7p13, Genomic coordinates (GRCh38): 7:44,143,213-44,189,439
Matching terms: 138079

* 176730. INSULIN; INS
INS-IGF2 SPLICED READ-THROUGH TRANSCRIPTS, INCLUDED
Cytogenetic location: 11p15.5, Genomic coordinates (GRCh38): 11:2,159,779-2,161,209
Matching terms: 176730

* 600733. PANCREAS/DUODENUM HOMEOBOX PROTEIN 1; PDX1
Cytogenetic location: 13q12.2, Genomic coordinates (GRCh38): 13:27,920,000-27,926,313
Matching terms: 600733

* 600937. POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11
Cytogenetic location: 11p15.1, Genomic coordinates (GRCh38): 11:17,385,248-17,389,346
Matching terms: 600937

10:

* 601656. GATA-BINDING PROTEIN 6; GATA6
Cytogenetic location: 18q11.2, Genomic coordinates (GRCh38): 18:22,169,589-22,202,528
Matching terms: 601656

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