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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:A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine.
Synonyms:exact_synonym: Bilirubinemia;   bilirubinemias;   hyperbilirubinaemia;   hyperbilirubinemia;   hyperbilirubinemias
 primary_id: MESH:D006932
 alt_id: RDO:0005829
 xref: NCI:C84761;   OMIM:PS237450
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
ISO
IEP
CTD Direct Evidence: marker/mechanism
mRNA, protein:decreased expression:liver
CTD PMID:16611851, PMID:16899240, PMID:15846474, PMID:8662992 RGD:1598605, RGD:11081004, RGD:631914 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP mRNA:increased expression:liver RGD PMID:16543292 RGD:2301069 NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 IEP protein:decreased activity:liver: RGD PMID:8351413 RGD:11035235 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP protein:decreased expression:platelet (rat) RGD PMID:26459859 RGD:11522763 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Calb1 calbindin 1 IEP RGD PMID:12204357 RGD:633843 NCBI chr 5:29,538,380...29,562,774
Ensembl chr 5:29,538,380...29,562,773
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8602625 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G F12 coagulation factor XII ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:16638441 PMID:25741868 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G F7 coagulation factor VII IEP protein:decreased expression:serum (rat) RGD PMID:14724430 RGD:1304286 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:9073133 RGD:8548604 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hmbs hydroxymethylbilane synthase IEP protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:16638441 PMID:25741868 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
G Slco1b2 solute carrier organic anion transporter family member 1B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18296417 NCBI chr 4:175,814,118...175,881,775
Ensembl chr 4:175,814,118...175,881,768
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 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10379864 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
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
PMID:11061796 PMID:11182932 PMID:12208142 PMID:15304120 PMID:15712364 PMID:16269258 PMID:18004206 PMID:18414213 PMID:20194756 PMID:21983082 PMID:22325916 PMID:22514612 PMID:23290513 PMID:23950218 PMID:25370011 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26697581 PMID:26716871 PMID:26727668 PMID:27060662 PMID:28492532, PMID:21993917, PMID:15753292, PMID:10091405, PMID:16609363 RGD:6482854, RGD:1354702, RGD:10769337, RGD:6482855 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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:11061796 PMID:11182932 PMID:12208142 PMID:15304120 PMID:15712364 PMID:16269258 PMID:18004206 PMID:18414213 PMID:22325916 PMID:22514612 PMID:23290513 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,285,592...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:11061796 PMID:11182932 PMID:12208142 PMID:15304120 PMID:15712364 PMID:16269258 PMID:18004206 PMID:18414213 PMID:22325916 PMID:22514612 PMID:23290513 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,274,707...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:11061796 PMID:11182932 PMID:12208142 PMID:15304120 PMID:15712364 PMID:16269258 PMID:18004206 PMID:18414213 PMID:22325916 PMID:22514612 PMID:23290513 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,256,628...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:11061796 PMID:11182932 PMID:12208142 PMID:15304120 PMID:15712364 PMID:16269258 PMID:18004206 PMID:18414213 PMID:22325916 PMID:22514612 PMID:23290513 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,241,609...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:11061796 PMID:11182932 PMID:12208142 PMID:15304120 PMID:15712364 PMID:16269258 PMID:18004206 PMID:18414213 PMID:22325916 PMID:22514612 PMID:23290513 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,221,474...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:11061796 PMID:11182932 PMID:12208142 PMID:15304120 PMID:15712364 PMID:16269258 PMID:18004206 PMID:18414213 PMID:22325916 PMID:22514612 PMID:23290513 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,161,157...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 OMIM:606785
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar
OMIM
PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,285,592...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,274,707...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,256,628...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,241,609...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 ISO ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,221,474...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by synonym: Crigler-Najjar syndrome, type II
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
ClinVar Annotator: match by term: Crigler-Najjar syndrome, type II
ClinVar PMID:805737 PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:8706880 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11370628 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14550264 PMID:15304120 PMID:15712364 PMID:16636344 PMID:17229650 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19390945 PMID:22992668 PMID:23014115 PMID:23875061 PMID:24033692 PMID:24308720 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26229432 PMID:26604633 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,161,157...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 type 1
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar Annotator: match by OMIM:218800
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 PMID:9039987 PMID:9497253 PMID:11061796 PMID:11182932 PMID:11968090 PMID:12208142 PMID:14616765 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:18004206 PMID:18414213 PMID:19325249 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24390994 PMID:25370011 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532, PMID:9497253, PMID:16337205, PMID:22765254, PMID:24285217, PMID:16019265, PMID:22094718 RGD:1600438, RGD:13432067, RGD:10769363, RGD:10769340, RGD:6482856, RGD:6482851 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 PMID:9039987 PMID:9497253 PMID:11061796 PMID:11182932 PMID:11968090 PMID:12208142 PMID:14616765 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:18004206 PMID:18414213 PMID:19325249 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24390994 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,285,592...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 PMID:9039987 PMID:9497253 PMID:11061796 PMID:11182932 PMID:11968090 PMID:12208142 PMID:14616765 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:18004206 PMID:18414213 PMID:19325249 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24390994 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,274,707...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 PMID:9039987 PMID:9497253 PMID:11061796 PMID:11182932 PMID:11968090 PMID:12208142 PMID:14616765 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:18004206 PMID:18414213 PMID:19325249 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24390994 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,256,628...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 PMID:9039987 PMID:9497253 PMID:11061796 PMID:11182932 PMID:11968090 PMID:12208142 PMID:14616765 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:18004206 PMID:18414213 PMID:19325249 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24390994 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,241,609...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 PMID:9039987 PMID:9497253 PMID:11061796 PMID:11182932 PMID:11968090 PMID:12208142 PMID:14616765 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:18004206 PMID:18414213 PMID:19325249 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24390994 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,221,474...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by synonym: Crigler Najjar syndrome, type 1
ClinVar Annotator: match by term: Crigler-Najjar syndrome type 1
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
ClinVar Annotator: match by term: Crigler Najjar syndrome, type 1
ClinVar PMID:1634050 PMID:1692835 PMID:7906695 PMID:7936809 PMID:8276413 PMID:9039987 PMID:9497253 PMID:11061796 PMID:11182932 PMID:11968090 PMID:12208142 PMID:14616765 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:18004206 PMID:18414213 PMID:19325249 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24390994 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26697581 PMID:26716871 PMID:26727668 PMID:28492532 NCBI chr 9:95,161,157...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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: Dubin-Johnson syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:237500
ClinVar
CTD
OMIM
PMID:9185779 PMID:9425227 PMID:9878557 PMID:10053008 PMID:10464142 PMID:11266082 PMID:11477083 PMID:11901087 PMID:12388192 PMID:12395335 PMID:12942343 PMID:15180328 PMID:15519273 PMID:15821043 PMID:16012956 PMID:16847695 PMID:16952291 PMID:18334920 PMID:18445995 PMID:18673259 PMID:18974617 PMID:20799350 PMID:20849526 PMID:20981092 PMID:21044052 PMID:21449672 PMID:21691255 PMID:22290738 PMID:22318656 PMID:23557583 PMID:24033266 PMID:25087612 PMID:25111166 PMID:25336012 PMID:25741868 PMID:27604170 PMID:27706244 PMID:27882152 PMID:28492532 PMID:28713894, PMID:10053008, PMID:8599091 RGD:1598616, RGD:69812 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcc3 ATP binding cassette subfamily C member 3 IEP RGD PMID:14731123 RGD:1598620 NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
JBrowse link
G Rdx radixin ISS OMIM:237500 MouseDO NCBI chr 8:56,570,728...56,612,851
Ensembl chr 8:56,585,396...56,610,612
JBrowse link
G Slco1a1 solute carrier organic anion transporter family, member 1a1 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:176,158,174...176,231,331
Ensembl chr 4:176,158,640...176,231,344
JBrowse link
G Slco1a4 solute carrier organic anion transporter family, member 1a4 IEP RGD PMID:14731123 RGD:1598620 NCBI chr 4:175,969,549...176,026,227
Ensembl chr 4:175,969,549...176,026,163
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's syndrome ClinVar NCBI chr 4:175,814,118...175,881,775
Ensembl chr 4:175,814,118...175,881,768
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 ISO ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar Annotator: match by OMIM:143500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10421657 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:11906189 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14616765 PMID:15180166 PMID:15297419 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:19414484 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 PMID:32860008 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:11906189 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14616765 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:19414484 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 PMID:32860008 NCBI chr 9:95,285,592...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:11906189 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14616765 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:19414484 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 PMID:32860008 NCBI chr 9:95,274,707...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:11906189 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14616765 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:19414484 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 PMID:32860008 NCBI chr 9:95,256,628...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:11906189 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14616765 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:19414484 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 PMID:32860008 NCBI chr 9:95,241,609...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:11906189 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14616765 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:19414484 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 PMID:32860008 NCBI chr 9:95,221,474...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: Gilbert's syndrome
ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE
ClinVar PMID:1692835 PMID:6480579 PMID:8276413 PMID:8528206 PMID:9621515 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:11906189 PMID:12181437 PMID:12208142 PMID:12402338 PMID:12502904 PMID:14616765 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:19414484 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24492252 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 PMID:32860008 NCBI chr 9:95,161,157...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 ClinVar Annotator: match by term: Rotor syndrome ClinVar
OMIM
PMID:21278621 PMID:22232210 PMID:25546334 PMID:25741868 PMID:27040692 PMID:27296017 PMID:27582484 PMID:28492532 NCBI chr 4:175,814,118...175,881,775
Ensembl chr 4:175,814,118...175,881,768
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 treatment ISO RGD PMID:15753292 RGD:1354702 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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: 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 PMID:8640229, PMID:14671619, PMID:9054656, PMID:23390527, PMID:19179303, PMID:23934996, PMID:21193012 RGD:1578350, RGD:11251681, RGD:11251680, RGD:11041609, RGD:11251676, RGD:11251675, RGD:11251674 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar PMID:1558976 RGD:1598910 NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
G Klf1 Kruppel like factor 1 ISO
ISS
DNA:missense mutation:exon:p.E339D (1065A>T) (human) MouseDO PMID:20691777 RGD:10769342 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis, Recessive ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO DNA:duplication:cds: (human)
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
PMID:1378323, PMID:8282779, PMID:9326249, PMID:9207478, PMID:8547122 RGD:1599007, RGD:10450510, RGD:10450506, RGD:10450491 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO DNA:polymorphisms:introns,exon:
ClinVar Annotator: match by term: Hereditary spherocytosis
ClinVar Annotator: match by term: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar PMID:25741868 PMID:28492532, PMID:15384986, PMID:11920196 RGD:11059521, RGD:11059522 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Sptb spectrin, beta, erythrocytic ISO mRNA:decreased expression:erythrocyte:
ClinVar Annotator: match by term: Spherocytosis, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8102379 PMID:19538529 PMID:25741868 PMID:28492532, PMID:19538529 RGD:11059526 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
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 4:117,691,294...117,887,556
Ensembl chr 4:117,743,710...117,882,464
JBrowse link
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: SPHEROCYTOSIS, HEREDITARY, 1
ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive
ClinVar Annotator: match by OMIM:182900
OMIM
ClinVar
PMID:1486040 PMID:7883994 PMID:8640229 PMID:9590147 PMID:11102985 PMID:11167760 PMID:12899723 PMID:15071790 PMID:16037067 PMID:17327413 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:73,681,422...73,912,605
Ensembl chr16:73,681,422...73,827,488
JBrowse link
G Epb42 erythrocyte membrane protein band 4.2 ISS OMIM:182900 MouseDO NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISS OMIM:182900 MouseDO NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
hereditary spherocytosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Spherocytosis type 2
ClinVar Annotator: match by term: Spectrin kissimmee
ClinVar Annotator: match by term: Spectrin durham
ClinVar
OMIM
PMID:1385736 PMID:3654760 PMID:6215583 PMID:7883966 PMID:8102379 PMID:8844207 PMID:9414314 PMID:9714702 PMID:11703334 PMID:19538529 PMID:25741868 NCBI chr 6:99,657,144...99,783,189
Ensembl chr 6:99,659,651...99,783,047
JBrowse link
hereditary spherocytosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Olr1597 olfactory receptor 1597 ISO ClinVar Annotator: match by term: Spherocytosis type 3 ClinVar NCBI chr13:92,342,255...92,343,196
Ensembl chr13:92,342,255...92,343,196
JBrowse link
G Spta1 spectrin, alpha, erythrocytic 1 ISO ClinVar Annotator: match by term: Spherocytosis type 3
ClinVar Annotator: match by term: Spherocytosis, type 3, autosomal recessive
ClinVar Annotator: match by OMIM:270970
OMIM
ClinVar
PMID:1638030 PMID:3785322 PMID:8081008 PMID:8370581 PMID:8941647 PMID:15071791 PMID:21212007 PMID:23241237 PMID:24033266 PMID:25741868 PMID:26002053 PMID:27667160 PMID:28492532 PMID:32581362 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
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 ClinVar Annotator: match by term: Spherocytosis type 4
ClinVar Annotator: match by OMIM:612653
OMIM
ClinVar
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:2146504 PMID:2196932 PMID:2527366 PMID:7530501 PMID:7812009 PMID:8011524 PMID:8206915 PMID:8282779 PMID:8343110 PMID:8471774 PMID:8547122 PMID:8567957 PMID:8608262 PMID:8704215 PMID:9207478 PMID:9312167 PMID:9734643 PMID:9973643 PMID:10745622 PMID:10942416 PMID:11155072 PMID:11380459 PMID:16227998 PMID:19229254 PMID:21039340 PMID:23255290 PMID:24033266 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:28492532 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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: Spherocytosis type 5
ClinVar Annotator: match by OMIM:612690
OMIM
ClinVar
PMID:1558976 PMID:2386772 PMID:7772513 PMID:7803799 PMID:8319790 PMID:8528207 PMID:10406914 PMID:12176912 PMID:19508687 PMID:25741868 PMID:28492532 NCBI chr 3:112,967,095...112,985,318
Ensembl chr 3:112,965,653...112,985,318
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 OMIM:237900
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
ClinVar Annotator: match by term: Hyperbilirubinemia transient familial neonatal
ClinVar
OMIM
PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,285,592...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,274,707...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,256,628...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,241,609...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 ISO ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,221,474...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 ISO ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
ClinVar Annotator: match by term: Hyperbilirubinemia transient familial neonatal
ClinVar PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 NCBI chr 9:95,161,157...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 OMIM:614156 OMIM
ClinVar
PMID:19580635 PMID:21278388 NCBI chr 3:119,552,550...119,577,796
Ensembl chr 3:119,561,290...119,577,806
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ccl25 C-C motif chemokine ligand 25 IEP mRNA:decreased expression:ileum RGD PMID:18592157 RGD:5130926 NCBI chr12:2,429,492...2,438,928
Ensembl chr12:2,429,509...2,438,817
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Jaundice ClinVar PMID:25407461 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 IEP RGD PMID:8502229 RGD:11576308 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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 8:62,451,360...62,458,244
Ensembl chr 8:62,451,329...62,458,301
JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Jaundice ClinVar PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:17875872 PMID:23364466 PMID:24033266 PMID:25741868 PMID:26280465 PMID:28054335 PMID:28093505 NCBI chr18:59,941,992...59,975,192
Ensembl chr18:59,941,992...59,975,192
JBrowse link
G Hbb hemoglobin subunit beta ISO RGD PMID:10870887 RGD:1600896 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:lung (rat) RGD PMID:19034056 RGD:4145521 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 treatment ISO
IAGP
RGD PMID:19585550, PMID:20323028 RGD:13432069, RGD:1354701 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Hmox1 heme oxygenase 1 IMP RGD PMID:19646271 RGD:4145302 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:28167773 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28167773 NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO DNA:polymorphism: :211G>A(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:28167773, PMID:21592495 RGD:10769330 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22371261 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Neonatal jaundice ClinVar PMID:32666583 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
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 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Adm adrenomedullin IEP protein:increased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Alb albumin IEP RGD PMID:9161836 RGD:11036102 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IDA RGD PMID:15573249 RGD:8549649 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd14 CD14 molecule IEP mRNA:increased expression:ileum, liver, lung, spleen RGD PMID:25093541 RGD:9685190 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cfh complement factor H IEP protein:decreased expression:plasma: RGD PMID:20132852 RGD:7364952 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Hmbs hydroxymethylbilane synthase EXP Protein:increased activity:liver (rat) RGD PMID:3963818 RGD:4144803 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hmgb1 high mobility group box 1 IEP protein:increased expression:liver, plasma RGD PMID:21737101 RGD:10402168 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Irf5 interferon regulatory factor 5 IEP mRNA,protein:increased expression:liver,nucleus: RGD PMID:21737101 RGD:10402168 NCBI chr 4:56,804,477...56,816,271
Ensembl chr 4:56,805,132...56,820,543
JBrowse link
G Lbp lipopolysaccharide binding protein IEP mRNA:increased expression:liver RGD PMID:25093541 RGD:9685190 NCBI chr 3:154,786,232...154,812,910
Ensembl chr 3:154,786,215...154,813,464
JBrowse link
G Pcna proliferating cell nuclear antigen treatment IEP RGD PMID:12917765 RGD:10448973 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO RGD PMID:29366780 RGD:15090858 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Ucp2 uncoupling protein 2 IEP RGD PMID:19632092 RGD:7204429 NCBI chr 1:165,506,375...165,512,744
Ensembl chr 1:165,506,361...165,512,744
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Pathological Conditions, Signs and Symptoms 8834
      Pathologic Processes 6208
        bilirubin metabolic disorder 67
          Crigler-Najjar syndrome + 7
          Dubin-Johnson syndrome 6
          Gilbert syndrome 8
          Hereditary Hyperbilirubinemia + 14
          Jaundice + 38
          Neonatal Hyperbilirubinemia + 19
          kernicterus + 2
Path 2
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8455
        genetic disease 7972
          inherited metabolic disorder 2241
            bilirubin metabolic disorder 67
              Crigler-Najjar syndrome + 7
              Dubin-Johnson syndrome 6
              Gilbert syndrome 8
              Hereditary Hyperbilirubinemia + 14
              Jaundice + 38
              Neonatal Hyperbilirubinemia + 19
              kernicterus + 2
paths to the root