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
Accession: DOID:2741
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 .
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ugt1a1j
UDP glucuronosyltransferase family 1 member A1, jaundice mutant
IAGP
RGD
PMID:15753292
RGD:1354702
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Ugt1a1j
UDP glucuronosyltransferase family 1 member A1, jaundice mutant
IAGP
RGD
PMID:20323028
RGD:1354701
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Alb
albumin
IEP
RGD
PMID:9161836
RGD:11036102
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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