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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, PMID:30311386 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 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 Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hyperbilirubinemia ClinVar PMID:16638441, PMID:25741868, PMID:30311386 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
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility
severity
ISO 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:10091405, PMID:16609363 RGD:6482854, 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 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:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, 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:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, 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:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, 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:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, 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:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, 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:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, 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:11013440, PMID:11061796, PMID:11182932, PMID:11968090, PMID:12208142, PMID:14616765, PMID:15304120, PMID:15712364, PMID:16269258, PMID:16504606, PMID:16610035, PMID:16712705, PMID:17098698, 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: Spherocytosis, Recessive
DNA:deletion:cds:
ClinVar 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:30311386, 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 Abcc2 ATP binding cassette subfamily C member 2 ISO ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
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, PMID:30311386 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, PMID:30311386 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 Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 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 ClinVar Annotator: match by term: Icterus ClinVar PMID:30311386 NCBI chr13:92,264,231...92,340,091
Ensembl chr13:92,264,231...92,340,083
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 treatment ISO RGD PMID:19585550 RGD:13432069 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
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 Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Neonatal jaundice ClinVar PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
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 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 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 16023
    Pathological Conditions, Signs and Symptoms 8754
      Pathologic Processes 6130
        bilirubin metabolic disorder 66
          Crigler-Najjar syndrome + 7
          Dubin-Johnson syndrome 6
          Gilbert syndrome 8
          Hereditary Hyperbilirubinemia + 14
          Jaundice + 36
          Neonatal Hyperbilirubinemia + 20
          kernicterus + 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            bilirubin metabolic disorder 66
              Crigler-Najjar syndrome + 7
              Dubin-Johnson syndrome 6
              Gilbert syndrome 8
              Hereditary Hyperbilirubinemia + 14
              Jaundice + 36
              Neonatal Hyperbilirubinemia + 20
              kernicterus + 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.