Entry Search - 230400 606999 230400 606999

Search: '230400 606999 230400 606999 (Search in: MIM number)'

Results: 2 entries.

* 606999. GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
GALT/IL11RA SPLICED READ-THROUGH TRANSCRIPT, INCLUDED
Cytogenetic location: 9p13.3, Genomic coordinates (GRCh38): 9:34,646,675-34,651,035
Matching terms: 606999
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9p13.3	Galactosemia	230400	AR	3

▲ Close

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 gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Galactose-1-Phosphate Urid… Galactosaemia NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene OMIA Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

▲ Close

ICD+
SNOMEDCT: 124354006, 398664009

▲ Close

# 230400. GALACTOSEMIA I; GALAC1
GALACTOSEMIA, DUARTE VARIANT, INCLUDED
Cytogenetic location: 9p13.3
Matching terms: 230400
► 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
9p13.3	Galactosemia	230400	AR	3	GALT	606999

▲ Close

Galactosemia - PS230400 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.11	Galactose epimerase deficiency	AR	3	230350	GALE	606953
2p22.1	Galactosemia IV	AR	3	618881	GALM	137030
9p13.3	Galactosemia	AR	3	230400	GALT	606999
17q25.1	Galactokinase deficiency with cataracts	AR	3	230200	GALK1	604313

▲ Close

Links
Testing GTR EuroGentest Galactosemia Classic galactosemia	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Galactosemia Classic galactosemia Gene Reviews Classic Galactosemia and C… Duarte Variant Galactosemia Genetic Alliance MedlinePlus Genetics GTR Newborn Screening ACMG ACT Sheet ACMG Algorithm GARD Classic galactosemia Galactosemia OrphaNet Galactosemia Classic galactosemia POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene OMIA Wormbase Disease Ontology	Cell Lines Coriell

▲ Close

ICD+
SNOMEDCT: 124354006, 398664009 ORPHA: 352, 79239 DO: 0111459

▲ Close

Search: 230400 606999 230400 606999 (Search in: MIM number)

Results: 2 entries.

# 230400. GALACTOSEMIA I; GALAC1
GALACTOSEMIA, DUARTE VARIANT, INCLUDED
Cytogenetic location: 9p13.3
Matching terms: 230400

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM^® and Online Mendelian Inheritance in Man^® are registered trademarks of the Johns Hopkins University.
Copyright^® 1966-2024 Johns Hopkins University.
Printed: April 24, 2024