Entry Search - 237450 604843 605495

Search: '237450 604843 605495 (Search in: MIM number)'

Results: 3 entries.

* 604843. SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1
Cytogenetic location: 12p12.1, Genomic coordinates (GRCh38): 12:21,131,194-21,239,796
Matching terms: 604843
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12p12.1	Hyperbilirubinemia, Rotor type, digenic	237450	DR	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 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 WBGene00009023 WBGene00018566	Cellular Pathways KEGG Reactome

▲ Close

* 605495. SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B3; SLCO1B3
SLCO1B3-SLCO1B7 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED; SLCO1B3-SLCO1B7, INCLUDED
Cytogenetic location: 12p12.2, Genomic coordinates (GRCh38): 12:20,810,705-20,916,911
Matching terms: 605495
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12p12.2	Hyperbilirubinemia, Rotor type, digenic	237450	DR	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 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 OMIA OrthoDB Wormbase Gene WBGene00009023 WBGene00012531 WBGene00018566 WBGene00018568	Cellular Pathways KEGG Reactome

▲ Close

# 237450. HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR
Cytogenetic locations: 12p12.2, 12p12.1
Matching terms: 237450
► 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
12p12.2	Hyperbilirubinemia, Rotor type, digenic	237450	DR	3	SLCO1B3	605495
12p12.1	Hyperbilirubinemia, Rotor type, digenic	237450	DR	3	SLCO1B1	604843

▲ Close

Hyperbilirubinemia - PS237450 - 7 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q37.1	[Gilbert syndrome]	AR	3	143500	UGT1A1	191740
2q37.1	Crigler-Najjar syndrome, type II	AR	3	606785	UGT1A1	191740
2q37.1	Hyperbilirubinemia, familial transient neonatal	AD, AR	3	237900	UGT1A1	191740
2q37.1	Crigler-Najjar syndrome, type I	AR	3	218800	UGT1A1	191740
10q24.2	Dubin-Johnson syndrome	AR	3	237500	ABCC2	601107
12p12.2	Hyperbilirubinemia, Rotor type, digenic	DR	3	237450	SLCO1B3	605495
12p12.1	Hyperbilirubinemia, Rotor type, digenic	DR	3	237450	SLCO1B1	604843

▲ Close

Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet	Animal Models OMIA

▲ Close

ICD+
SNOMEDCT: 32891000 ICD10CM: E80.6 ORPHA: 3111

▲ Close

Search: 237450 604843 605495 (Search in: MIM number)

Results: 3 entries.

* 604843. SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1
Cytogenetic location: 12p12.1, Genomic coordinates (GRCh38): 12:21,131,194-21,239,796
Matching terms: 604843

# 237450. HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR
Cytogenetic locations: 12p12.2, 12p12.1
Matching terms: 237450

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: June 6, 2024