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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:bilirubin metabolic disorder
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Accession:DOID:2741 term browser browse the term
Definition:An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. (DO)
Synonyms:exact_synonym: bilirubinemia;   bilirubinemias;   hyperbilirubinaemia;   hyperbilirubinemia;   hyperbilirubinemias
 primary_id: MESH:D006932
 xref: NCI:C84761;   OMIM:PS237450
For additional species annotation, visit the Alliance of Genome Resources.



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bilirubin metabolic disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 treatment IDA
IEP
ISO
mRNA, protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16611851 PMID:16899240 PMID:8662992 PMID:15846474 RGD:1598605, RGD:631914, RGD:11081004 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP mRNA:increased expression:liver RGD PMID:16543292 RGD:2301069 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 IEP protein:decreased activity:liver: RGD PMID:8351413 RGD:11035235 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP protein:decreased expression:platelet (rat) RGD PMID:26459859 RGD:11522763 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Calb1 calbindin 1 IEP RGD PMID:12204357 RGD:633843 NCBI chr 5:29,375,624...29,402,532
Ensembl chr 5:29,375,642...29,402,431
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8602625 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:16638441 PMID:25741868 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
JBrowse link
G F7 coagulation factor VII IEP protein:decreased expression:serum (rat) RGD PMID:14724430 RGD:1304286 NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:9073133 RGD:8548604 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hmbs hydroxymethylbilane synthase IEP protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Slco1b2 solute carrier organic anion transporter family member 1B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18296417 NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO associated with acute lymphoblastic leukemia;DNA:SNP: :(rs4880)(human) RGD PMID:27019981 RGD:11060605 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10379864 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility
severity
ISO
IAGP
associated with Arthritis, Rheumatoid;DNA:polymorphisms
ClinVar Annotator: match by term: Hyperbilirubinemia
CTD Direct Evidence: marker/mechanism
associated with Beta-Thalassemia;DNA:repeat:promoter:(TA)
associated with HIV Infection;DNA:mutation: :p.G71R (human)
ClinVar
CTD
RGD
PMID:9630669 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11983459 More... RGD:6482854, RGD:1354702, RGD:10769337, RGD:6482855 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a1j UDP glucuronosyltransferase family 1 member A1, jaundice mutant IAGP RGD PMID:15753292 RGD:1354702
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:9630669 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11983459 More... NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:9630669 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11983459 More... NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:9630669 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11983459 More... NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:9630669 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11983459 More... NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:9630669 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11983459 More... NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
Crigler Najjar Syndrome, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 More... NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 More... NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 More... NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 More... NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 More... NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 | ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:7715297 PMID:7989595 More... NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
Crigler-Najjar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility
treatment
ISO
IMP
DNA:splice-site mutations
ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:7989045 More... RGD:1600438, RGD:13432067, RGD:10769363, RGD:10769340, RGD:6482856, RGD:6482851 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:7989045 More... NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:7989045 More... NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:7989045 More... NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:7989045 More... NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 ISO ClinVar Annotator: match by term: CRIGLER-NAJJAR SYNDROME, TYPE I | ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8102509 More... NCBI chr 9:88,727,094...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: Crigler-Najjar syndrome | ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1 | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:7989045 More... NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
Dubin-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 susceptibility ISO
IMP
ClinVar Annotator: match by term: ABCC2-related condition | ClinVar Annotator: match by term: Dubin-Johnson syndrome
DNA:missense mutation, deletions:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:9185779 PMID:9425227 PMID:9536098 PMID:9878557 PMID:10053008 More... RGD:1598616, RGD:150429696, RGD:69812 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP RGD PMID:14731123 RGD:1598620 NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
JBrowse link
G Rdx radixin ISS OMIM:237500 MouseDO NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:174,877,045...174,950,900
Ensembl chr 4:174,876,593...174,950,873
JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573
JBrowse link
Gilbert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slco1b2 solute carrier organic anion transporter family member 1B2 ISO ClinVar Annotator: match by term: Gilbert syndrome ClinVar NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE ClinVar PMID:1692835 PMID:6480579 PMID:7715297 PMID:7906695 PMID:7989045 More... NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
Hereditary Hyperbilirubinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slco1b2 solute carrier organic anion transporter family member 1B2 ISO
IMP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperbilirubinemia, Rotor type | ClinVar Annotator: match by term: Rotor syndrome | ClinVar Annotator: match by term: SLCO1B3-related condition
OMIM
CTD
ClinVar
RGD
PMID:21278621 PMID:22232210 PMID:25546334 PMID:25741868 PMID:27040692 More... RGD:150521535 NCBI chr 4:174,551,463...174,619,988
Ensembl chr 4:174,551,480...174,619,981
JBrowse link
G Slco1b2em1Myliu solute carrier organic anion transporter family member 1B2; CRISPR/Case9 induced mutant 1, Myliu IMP RGD PMID:32528832 RGD:150521535
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 treatment ISO RGD PMID:15753292 RGD:1354702 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
hereditary spherocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 severity ISO ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
DNA:deletion mutation:exon:
DNA:deletion:cds:
DNA:mutation: :
DNA:transversion mutation:splice site:1674G>C(mouse)
DNA:transition mutation:intron:
DNA:mutation:exon:p.E924X(mouse)
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:8640229 PMID:14671619 PMID:9054656 More... RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar
RGD
PMID:28492532 PMID:1558976 RGD:1598910 NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
JBrowse link
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: Hereditary spherocytosis ClinVar PMID:25741868 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
JBrowse link
G Klf1 KLF transcription factor 1 ISO
ISS
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO
RGD
PMID:20691777 RGD:10769342 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:duplication:cds: (human)
ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
mRNA:splicing error:intron:IVS8+1G>T (human)
DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)
DNA:missense mutation:cds:p.G771D (human)
ClinVar
CTD
RGD
PMID:1378323 PMID:25741868 PMID:28492532 PMID:36231035 PMID:8282779 More... RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Congenital spherocytosis | ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Recessive
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant | ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar
RGD
PMID:8941647 PMID:15384986 PMID:24033266 PMID:25741868 PMID:27292444 More... RGD:11059521, RGD:11059522 NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532 PMID:29396846 More... RGD:11059526 NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
JBrowse link
hereditary spherocytosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add2 adducin 2 ISS OMIM:182900 MouseDO NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505
JBrowse link
G Ank1 ankyrin 1 ISO
ISS
ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
OMIM:182900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9536098 PMID:9590147 More... NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg3 pleckstrin homology and RhoGEF domain containing G3 ISO ClinVar Annotator: match by term: SPTB-related condition ClinVar PMID:25741868 NCBI chr 6:95,265,756...95,308,952
Ensembl chr 6:95,266,058...95,310,359
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 2 | ClinVar Annotator: match by term: SPTB-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1391962 PMID:1498324 PMID:6426236 PMID:7883966 PMID:8018926 More... NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Or10z1 olfactory receptor family 10 subfamily Z member 1 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 3 ClinVar NCBI chr13:86,281,535...86,282,476
Ensembl chr13:86,278,626...86,283,642
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO
ISS
ClinVar Annotator: match by term: Hereditary spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis type 3 | ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
OMIM:270970
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 More... NCBI chr13:86,203,504...86,279,371
Ensembl chr13:86,203,504...86,279,371
JBrowse link
hereditary spherocytosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spherocytosis type 4 | ClinVar Annotator: match by term: Spherocytosis type 4
OMIM:612653
CTD
ClinVar
MouseDO
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
hereditary spherocytosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Hereditary spherocytosis type 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 More... NCBI chr 3:107,979,709...107,997,932
Ensembl chr 3:107,979,713...107,997,932
JBrowse link
Hyperbilirubinemia, Transient Familial Neonatal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 More... NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
Hyperbiliverdinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blvra biliverdin reductase A ISO ClinVar Annotator: match by term: Hyperbiliverdinemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19580635 PMID:21278388 PMID:25741868 NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033
JBrowse link
Jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Biliary Atresia; protein:increased expression:serum RGD PMID:21356120 RGD:5686894 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ccl25 C-C motif chemokine ligand 25 IEP mRNA:decreased expression:ileum RGD PMID:18592157 RGD:5130926 NCBI chr12:2,707,398...2,716,571
Ensembl chr12:2,707,398...2,716,554
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Jaundice ClinVar PMID:24178751 PMID:25407461 PMID:25741868 PMID:26092869 PMID:28125082 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 IEP RGD PMID:8502229 RGD:11576308 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 IEP mRNA:decreased expression:liver RGD PMID:18442205 PMID:8502229 RGD:2303375, RGD:11576308 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Jaundice ClinVar PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 More... NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
JBrowse link
G Hbb hemoglobin subunit beta ISO RGD PMID:10870887 RGD:1600896 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:lung (rat) RGD PMID:19034056 RGD:4145521 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Invs inversin ISO RGD PMID:10421642 RGD:155791685 NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
JBrowse link
G Rbp4 retinol binding protein 4 disease_progression ISO associated with biliary atresia; protein:decreased expression:blood serum (human) RGD PMID:21484122 RGD:329845870 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 treatment ISO
IAGP
RGD PMID:19585550 PMID:20323028 RGD:13432069, RGD:1354701 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
G Ugt1a1j UDP glucuronosyltransferase family 1 member A1, jaundice mutant IAGP RGD PMID:20323028 RGD:1354701
kernicterus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20194756 PMID:28167773 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
Neonatal Hyperbilirubinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO protein:decreased activity:blood RGD PMID:25092943 RGD:10449110 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Hmox1 heme oxygenase 1 IMP RGD PMID:19646271 RGD:4145302 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28167773 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28167773 NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO DNA:polymorphism: :211G>A(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:28167773 PMID:21592495 RGD:10769330 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
JBrowse link
neonatal jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO DNA:point mutation: :563C>T (human) RGD PMID:24460025 RGD:10449116 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22371261 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
JBrowse link
obstructive jaundice term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22022477 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link
G Adm adrenomedullin IEP protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Alb albumin IEP RGD PMID:9161836 RGD:11036102 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IDA RGD PMID:15573249 RGD:8549649 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd14 CD14 molecule IEP mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cfh complement factor H IEP protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Gpt glutamic--pyruvic transaminase IEP RGD PMID:9161836 RGD:11036102 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
JBrowse link
G Hmbs hydroxymethylbilane synthase EXP Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
G Hmgb1 high mobility group box 1 IEP protein:increased expression:liver, plasma RGD PMID:21737101 RGD:10402168 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565
JBrowse link
G Irf5 interferon regulatory factor 5 IEP mRNA,protein:increased expression:liver,nucleus: RGD PMID:21737101 RGD:10402168 NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
JBrowse link
G Lbp lipopolysaccharide binding protein IEP mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
JBrowse link
G Pcna proliferating cell nuclear antigen treatment IEP RGD PMID:12917765 RGD:10448973 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Ucp2 uncoupling protein 2 IEP RGD PMID:19632092 RGD:7204429 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Pathologic Processes 7982
        bilirubin metabolic disorder 73
          Crigler-Najjar syndrome + 7
          Gilbert syndrome 7
          Hereditary Hyperbilirubinemia + 16
          Jaundice + 44
          Neonatal Hyperbilirubinemia + 18
          kernicterus + 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            bilirubin metabolic disorder 73
              Crigler-Najjar syndrome + 7
              Gilbert syndrome 7
              Hereditary Hyperbilirubinemia + 16
              Jaundice + 44
              Neonatal Hyperbilirubinemia + 18
              kernicterus + 2
paths to the root