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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormality of the gallbladder
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Accession:HP:0005264 term browser browse the term
Definition:An abnormality of the gallbladder.
Synonyms:exact_synonym: Anomaly of the gallbladder
 xref: SNOMEDCT_US:253803008;   SNOMEDCT_US:49714001;   UMLS:C0266249


show annotations for term's descendants           Sort by:
Abnormality of the gallbladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 IAGP HPO ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO ORPHA:349 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:887 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
Abnormal gallbladder morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KEAP1 kelch like ECH associated protein 1 IAGP DNA:missense mutations, frameshift mutations:cds:multiple RGD PMID:18692501 RGD:6893398 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
Absent gallbladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO MIM:612284 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP HPO MIM:618500 ORPHA:556955 NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO ORPHA:210122 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO MIM:600001 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO MIM:617925 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Absent gallbladder ClinVar PMID:25741868 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G RFX6 regulatory factor X6 IAGP HPO MIM:615710 NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO MIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
Aplasia/Hypoplasia of the gallbladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA6 GATA binding protein 6 IAGP HPO ORPHA:2255 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
Bilobate gallbladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase IAGP HPO MIM:261540 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G SC5D sterol-C5-desaturase IAGP HPO MIM:607330 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
Black pigment gallstones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGD homogentisate 1,2-dioxygenase IAGP HPO ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
Cholecystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 IAGP HPO ORPHA:69665 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO MIM:600803 ORPHA:69663 ORPHA:69665 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP HPO MIM:611881 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G ARSA arylsulfatase A IAGP HPO MIM:250100 ORPHA:309256 ORPHA:309263 ORPHA:309271 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP HPO ORPHA:69665 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G CALR calreticulin IAGP HPO ORPHA:131 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:131 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G GPI glucose-6-phosphate isomerase IAGP HPO MIM:613470 NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413 		JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:235700 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790 		JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:131 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:778 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 IAGP HPO ORPHA:69665 NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414 		JBrowse link
G PKLR pyruvate kinase L/R IAGP HPO MIM:266200 NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POT1 protection of telomeres 1 IAGP HPO MIM:620367 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
G PSAP prosaposin IAGP HPO ORPHA:309256 ORPHA:309263 ORPHA:309271 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO MIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TPI1 triosephosphate isomerase 1 IAGP HPO MIM:615512 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948 		JBrowse link
Cholelithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB11 ATP binding cassette subfamily B member 11 IAGP HPO MIM:605479 NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324 		JBrowse link
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO MIM:600803 ORPHA:69663 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO MIM:611465 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AIRE autoimmune regulator IAGP HPO MIM:240300 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G ALAS2 5'-aminolevulinate synthase 2 IAGP HPO MIM:300752 NCBI chr  X:55,009,055...55,030,977
Ensembl chr  X:55,009,055...55,030,977 		JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP HPO MIM:611881 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G AMACR alpha-methylacyl-CoA racemase IAGP HPO ORPHA:79095 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104 		JBrowse link
G ANK1 ankyrin 1 IAGP HPO MIM:182900 ORPHA:822 NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 IAGP HPO MIM:211600 NCBI chr18:57,646,426...57,803,315
Ensembl chr18:57,646,426...57,803,315 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BLVRA biliverdin reductase A IAGP HPO MIM:614156 NCBI chr 7:43,758,122...43,807,342
Ensembl chr 7:43,758,680...43,807,342 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP HPO MIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO MIM:213700 ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293 		JBrowse link
G DMPK DM1 protein kinase IAGP HPO MIM:160900 NCBI chr19:45,769,717...45,782,490
Ensembl chr19:45,769,709...45,782,552 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 IAGP HPO ORPHA:288 NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046 		JBrowse link
G EPB42 erythrocyte membrane protein band 4.2 IAGP HPO ORPHA:822 NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018 		JBrowse link
G FECH ferrochelatase IAGP HPO MIM:177000 ORPHA:79278 NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:2072 ORPHA:77259 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GCGR glucagon receptor IAGP HPO ORPHA:438274 NCBI chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:3166 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GPI glucose-6-phosphate isomerase IAGP HPO MIM:613470 NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G GYPC glycophorin C (Gerbich blood group) IAGP HPO ORPHA:288 NCBI chr 2:126,656,158...126,696,667
Ensembl chr 2:126,656,133...126,696,667 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO MIM:603903 ORPHA:231222 ORPHA:232 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HK1 hexokinase 1 IAGP HPO MIM:235700 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO MIM:206700 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 IAGP HPO ORPHA:3202 NCBI chr19:43,766,533...43,780,973
Ensembl chr19:43,766,533...43,780,976 		JBrowse link
G KDM5C lysine demethylase 5C IAGP HPO MIM:300534 NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,277...53,225,422 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 IAGP HPO MIM:620646 NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517 		JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO MIM:614886 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PFKM phosphofructokinase, muscle IAGP HPO MIM:232800 NCBI chr12:48,105,353...48,146,404
Ensembl chr12:48,105,139...48,146,404 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO MIM:194380 ORPHA:3202 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:53035 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PKLR pyruvate kinase L/R IAGP HPO MIM:266200 NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:171876 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO ORPHA:171876 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO ORPHA:171876 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO MIM:224100 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO ORPHA:3202 ORPHA:822 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 IAGP HPO ORPHA:77293 NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998 		JBrowse link
G SPTA1 spectrin alpha, erythrocytic 1 IAGP HPO ORPHA:288 ORPHA:822 NCBI chr 1:158,610,704...158,686,715
Ensembl chr 1:158,610,704...158,686,715 		JBrowse link
G SPTB spectrin beta, erythrocytic IAGP HPO ORPHA:288 ORPHA:822 NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO MIM:188400 ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO MIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TPI1 triosephosphate isomerase 1 IAGP HPO MIM:615512 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 IAGP HPO MIM:618775 NCBI chr19:29,205,320...29,213,151
Ensembl chr19:29,205,320...29,213,151 		JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO MIM:263700 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G VPS4A vacuolar protein sorting 4 homolog A IAGP HPO MIM:619273 NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,336...69,326,939 		JBrowse link
Cholesterol gallstones 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 IAGP HPO MIM:600803 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G CYP7A1 cytochrome P450 family 7 subfamily A member 1 IAGP HPO ORPHA:209902 NCBI chr 8:58,490,178...58,500,163
Ensembl chr 8:58,490,178...58,500,163 		JBrowse link
Gallbladder dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSA arylsulfatase A IAGP HPO MIM:250100 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
Neoplasm of the gallbladder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSA arylsulfatase A IAGP HPO ORPHA:309271 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G LRP1B LDL receptor related protein 1B ameliorates IAGP DNA:mutations:multiple: RGD PMID:32898339 RGD:150429787 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G PSAP prosaposin IAGP HPO ORPHA:309271 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
Pigment gallstones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPI glucose-6-phosphate isomerase IAGP HPO MIM:613470 NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:232 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the digestive system 10578
        Abnormality of the abdominal organs 3303
          Abnormality of the liver 2669
            Abnormality of the biliary system 1352
              Abnormality of the gallbladder 424
                Abnormal gallbladder morphology + 404
                Abnormal gallbladder physiology + 21
paths to the root