Entry Search - 238300 238310 238330 605899

Search: '238300 238310 238330 605899 (Search in: MIM number)'

Results: 4 entries.

* 238330. GLYCINE CLEAVAGE SYSTEM H PROTEIN; GCSH
Cytogenetic location: 16q23.2, Genomic coordinates (GRCh38): 16:81,081,945-81,096,395
Matching terms: 238330
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
16q23.2	Multiple mitochondrial dysfunctions syndrome 7	620423	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 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 WBGene00008354 WBGene00009918 ZFin	Cellular Pathways KEGG Reactome

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* 238300. GLYCINE DECARBOXYLASE; GLDC
Cytogenetic location: 9p24.1, Genomic coordinates (GRCh38): 9:6,532,467-6,645,729
Matching terms: 238300
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9p24.1	Glycine encephalopathy1	605899	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 FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 237939006 ICD10CM: E72.51

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# 605899. GLYCINE ENCEPHALOPATHY 1; GCE1
HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED; TNH, INCLUDED
Cytogenetic location: 9p24.1
Matching terms: 605899
► 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
9p24.1	Glycine encephalopathy1	605899	AR	3	GLDC	238300

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Glycine encephalopathy - PS605899 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p21.31	Glycine encephalopathy 2	AR	3	620398	AMT	238310
9p24.1	Glycine encephalopathy1	AR	3	605899	GLDC	238300

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Links
Testing EuroGentest Neonatal glycine encephalo… Infantile glycine encephal… Atypical glycine encephalo… Glycine encephalopathy	Clinical Resources Clinical Trials EuroGentest Neonatal glycine encephalo… Infantile glycine encephal… Atypical glycine encephalo… Glycine encephalopathy Gene Reviews MedlinePlus Genetics OrphaNet Neonatal glycine encephalo… Infantile glycine encephal… Atypical glycine encephalo… Glycine encephalopathy	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
SNOMEDCT: 237939006, 51097006 ICD10CM: E72.51 ORPHA: 289857, 289860, 289863, 407 DO: 0070616

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* 238310. AMINOMETHYLTRANSFERASE; AMT
Cytogenetic location: 3p21.31, Genomic coordinates (GRCh38): 3:49,416,778-49,422,473
Matching terms: 238310
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3p21.31	Glycine encephalopathy 2	620398	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 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	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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Search: 238300 238310 238330 605899 (Search in: MIM number)

Results: 4 entries.

* 238330. GLYCINE CLEAVAGE SYSTEM H PROTEIN; GCSH
Cytogenetic location: 16q23.2, Genomic coordinates (GRCh38): 16:81,081,945-81,096,395
Matching terms: 238330

* 238300. GLYCINE DECARBOXYLASE; GLDC
Cytogenetic location: 9p24.1, Genomic coordinates (GRCh38): 9:6,532,467-6,645,729
Matching terms: 238300

# 605899. GLYCINE ENCEPHALOPATHY 1; GCE1
HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED; TNH, INCLUDED
Cytogenetic location: 9p24.1
Matching terms: 605899

* 238310. AMINOMETHYLTRANSFERASE; AMT
Cytogenetic location: 3p21.31, Genomic coordinates (GRCh38): 3:49,416,778-49,422,473
Matching terms: 238310

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