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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:galactosemia
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Accession:DOID:9870 term browser browse the term
Definition:A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. (DO)
Synonyms:exact_synonym: DEFICIENCY OF UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;   UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency;   UTP Hexose 1 Phosphate Uridylyltransferase Deficiency;   UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease;   galactosaemia;   galactose intolerance;   galactosemias
 narrow_synonym: GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT;   Hereditary Galactokinase Deficiencies;   Hereditary Galactokinase Deficiency
 primary_id: MESH:D005693
 xref: GARD:2424;   ICD10CM:E74.21;   ICD9CM:271.1;   NCI:C84723;   OMIM:PS230400;   ORDO:352


show annotations for term's descendants           Sort by:
galactosemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1b1 aldo-keto reductase family 1 member B1 IEP protein:increased expression:endothelial cell, lens RGD PMID:16936110 RGD:1599728 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aptx aprataxin ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Cryaa crystallin, alpha A IEP mRNA:decreased expression:lens RGD PMID:1707863 RGD:1600994 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP Protein:increased expression:lens epithelium RGD PMID:16936110 RGD:1599728 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080 		JBrowse link
G Gale UDP-galactose-4-epimerase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25526675 NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Galk1 galactokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670469 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar Annotator: match by term: Galactosemia		 CTD
MouseDO
ClinVar		 PMID:1301925 PMID:1373122 PMID:1427861 PMID:1610789 PMID:1766867 More... NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:11286505 PMID:15841485 PMID:17079880 PMID:22944367 PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Smu1 SMU1, DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase ClinVar PMID:28492532 NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300 		JBrowse link
classic galactosemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: GALT-related condition OMIM
ClinVar		 PMID:1766867 PMID:1897530 PMID:2011574 PMID:4759900 PMID:7550229 More... NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
galactokinase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galk1 galactokinase 1 ISO ClinVar Annotator: match by term: Deficiency of galactokinase | ClinVar Annotator: match by term: GALK1-related condition OMIM
ClinVar		 PMID:7670469 PMID:9536098 PMID:10521295 PMID:10570908 PMID:10790206 More... NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Deficiency of galactokinase ClinVar PMID:10790206 PMID:11328943 PMID:16199547 PMID:16473856 PMID:23496044 More... NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
galactose epimerase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency OMIM
ClinVar		 PMID:6408303 PMID:7305435 PMID:9326324 PMID:9536098 PMID:9538513 More... NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency ClinVar NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068 		JBrowse link
Galactosemia IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Galm galactose mutarotase ISO ClinVar Annotator: match by term: GALACTOSE MUTAROTASE DEFICIENCY | ClinVar Annotator: match by term: GALACTOSEMIA IV | ClinVar Annotator: match by term: GALM-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30451973 PMID:30910422 NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          carbohydrate metabolic disorder 3265
            galactosemia 94
              Galactosemia IV 1
              classic galactosemia 1
              galactokinase deficiency 2
              galactose epimerase deficiency 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                galactosemia 94
                  Galactosemia IV 1
                  classic galactosemia 1
                  galactokinase deficiency 2
                  galactose epimerase deficiency 2
paths to the root