ONTOLOGY REPORT - ANNOTATIONS |
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Term: | glycosphingolipid metabolic process |
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Accession: | GO:0006687
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browse the term
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Definition: | The chemical reactions and pathways involving glycosphingolipids, any compound with residues of sphingoid and at least one monosaccharide. |
Synonyms: | exact_synonym: | glycosphingolipid metabolism |
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ABCA2 |
ATP binding cassette subfamily A member 2 |
involved_in |
ISS |
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UniProt |
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GO_REF:0000024 |
NCBI chr 9:137,007,234...137,028,922
Ensembl chr 9:137,007,234...137,028,915
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B3GALNT1 |
beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr 3:161,083,883...161,105,349
Ensembl chr 3:161,083,883...161,105,411
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B4GALNT1 |
beta-1,4-N-acetyl-galactosaminyltransferase 1 |
acts_upstream_of_or_within involved_in |
ISO TAS IEA |
(MGI:3797995|PMID:18308723) (PMID:1601877) |
MGI PINC Ensembl |
PMID:1601877 PMID:18308723 |
GO_REF:0000107 MGI:3797995 |
NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
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BAX |
BCL2 associated X, apoptosis regulator |
acts_upstream_of_or_within involved_in |
ISO IEA |
(MGI:3797995|PMID:18308723) |
MGI Ensembl |
PMID:18308723 |
GO_REF:0000107 MGI:3797995 |
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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CERK |
ceramide kinase |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr22:46,684,410...46,738,252
Ensembl chr22:46,684,410...46,738,252
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CPTP |
ceramide-1-phosphate transfer protein |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr 1:1,324,802...1,328,896
Ensembl chr 1:1,324,756...1,328,896
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CREM |
cAMP responsive element modulator |
acts_upstream_of_or_within involved_in |
ISO IEA |
(MGI:3797995|PMID:18308723) |
MGI Ensembl |
PMID:18308723 |
GO_REF:0000107 MGI:3797995 |
NCBI chr10:35,126,846...35,212,958
Ensembl chr10:35,126,791...35,212,958
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ENPP7 |
ectonucleotide pyrophosphatase/phosphodiesterase 7 |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr17:79,730,943...79,742,219
Ensembl chr17:79,730,943...79,742,219
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GALC |
galactosylceramidase |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665
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GBA2 |
glucosylceramidase beta 2 |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
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GBA3 |
glucosylceramidase beta 3 (gene/pseudogene) |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr 4:22,692,937...22,819,569
Ensembl chr 4:22,692,914...22,819,575
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GLB1 |
galactosidase beta 1 |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
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GLTP |
glycolipid transfer protein |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr12:109,850,945...109,880,541
Ensembl chr12:109,850,945...109,880,541
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GM2A |
ganglioside GM2 activator |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440
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HEXB |
hexosaminidase subunit beta |
acts_upstream_of_or_within involved_in |
ISO IEA |
(MGI:78473|PMID:8789434) |
MGI Ensembl |
PMID:8789434 |
GO_REF:0000107 MGI:78473 |
NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647
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KIT |
KIT proto-oncogene, receptor tyrosine kinase |
acts_upstream_of_or_within involved_in |
ISO IEA |
(MGI:3797995|PMID:18308723) |
MGI Ensembl |
PMID:18308723 |
GO_REF:0000107 MGI:3797995 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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MAP7 |
microtubule associated protein 7 |
acts_upstream_of_or_within |
ISO |
(MGI:3797995|PMID:18308723) |
MGI |
PMID:18308723 |
MGI:3797995 |
NCBI chr 6:136,342,734...136,550,422
Ensembl chr 6:136,342,281...136,550,819
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NEU2 |
neuraminidase 2 |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr 2:233,032,672...233,035,057
Ensembl chr 2:233,032,672...233,035,057
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NEU3 |
neuraminidase 3 |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr11:74,980,515...75,020,676
Ensembl chr11:74,988,279...75,018,893
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SMPD1 |
sphingomyelin phosphodiesterase 1 |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998
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ST6GALNAC3 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 |
involved_in |
IDA |
(PMID:17123352) |
BHF-UCL |
PMID:17123352 |
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NCBI chr 1:76,074,746...76,637,339
Ensembl chr 1:76,074,746...76,634,603
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ST6GALNAC6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
involved_in |
IDA |
(PMID:17123352) |
BHF-UCL |
PMID:17123352 |
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NCBI chr 9:127,885,321...127,906,616
Ensembl chr 9:127,885,321...127,905,408
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SUMF1 |
sulfatase modifying factor 1 |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273
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UGCG |
UDP-glucose ceramide glucosyltransferase |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr 9:111,896,814...111,935,369
Ensembl chr 9:111,896,814...111,935,369
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UGT8 |
UDP glycosyltransferase 8 |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-1660662 |
NCBI chr 4:114,598,402...114,678,225
Ensembl chr 4:114,598,770...114,678,225
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B3GALT1 |
beta-1,3-galactosyltransferase 1 |
involved_in |
IDA |
(PMID:9582303) |
BHF-UCL |
PMID:9582303 |
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NCBI chr 2:167,293,001...167,874,045
Ensembl chr 2:167,293,001...167,874,045
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B3GALT2 |
beta-1,3-galactosyltransferase 2 |
involved_in |
IDA |
(PMID:9582303) |
BHF-UCL |
PMID:9582303 |
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NCBI chr 1:193,178,730...193,186,613
Ensembl chr 1:193,178,730...193,186,613
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B4GALT3 |
beta-1,4-galactosyltransferase 3 |
involved_in |
IDA IBA |
(PMID:9405390) (PMID:21873635) |
BHF-UCL GO_Central |
PMID:9405390 PMID:21873635 |
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NCBI chr 1:161,171,310...161,177,968
Ensembl chr 1:161,171,310...161,177,968
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FA2H |
fatty acid 2-hydroxylase |
involved_in |
IEA ISS |
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000041 GO_REF:0000107 |
NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
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GAL3ST1 |
galactose-3-O-sulfotransferase 1 |
acts_upstream_of_or_within involved_in |
ISO IEA IBA |
(MGI:1355015|PMID:10727929) (PMID:21873635) |
MGI Ensembl GO_Central |
PMID:10727929 PMID:21873635 |
GO_REF:0000107 MGI:1355015 |
NCBI chr22:30,554,635...30,574,665
Ensembl chr22:30,554,635...30,574,665
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UGT8 |
UDP glycosyltransferase 8 |
involved_in |
IEA IBA ISS |
(PMID:21873635) |
Ensembl GO_Central UniProt |
PMID:21873635 |
GO_REF:0000024 GO_REF:0000041 GO_REF:0000107 |
NCBI chr 4:114,598,402...114,678,225
Ensembl chr 4:114,598,770...114,678,225
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GALC |
galactosylceramidase |
acts_upstream_of_or_within involved_in |
ISO IBA ISS IDA IEA |
(MGI:2183819|PMID:11371512) (PMID:21873635) (PMID:8399327) |
MGI GO_Central UniProt InterPro Ensembl |
PMID:8399327 PMID:11371512 PMID:21873635 |
GO_REF:0000002 GO_REF:0000024 GO_REF:0000107 MGI:2183819 |
NCBI chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665
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GBA3 |
glucosylceramidase beta 3 (gene/pseudogene) |
involved_in |
IDA |
(PMID:17595169) |
UniProt |
PMID:17595169 |
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NCBI chr 4:22,692,937...22,819,569
Ensembl chr 4:22,692,914...22,819,575
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PSAP |
prosaposin |
acts_upstream_of_or_within |
ISO |
(MGI:2183819|PMID:11371512) |
MGI |
PMID:11371512 |
MGI:2183819 |
NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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GAL3ST1 |
galactose-3-O-sulfotransferase 1 |
involved_in |
ISS IEA |
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr22:30,554,635...30,574,665
Ensembl chr22:30,554,635...30,574,665
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B3GALT4 |
beta-1,3-galactosyltransferase 4 |
involved_in |
IDA |
(PMID:9582303) |
BHF-UCL |
PMID:9582303 |
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NCBI chr 6:33,277,123...33,278,825
Ensembl chr 6:33,277,123...33,284,832
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B4GALNT1 |
beta-1,4-N-acetyl-galactosaminyltransferase 1 |
acts_upstream_of_or_within involved_in |
ISO IDA IMP IBA IEA |
(MGI:1331265|PMID:10021458) (PMID:7487055), (PMID:7890749) (PMID:1601877) (PMID:21873635) |
MGI UniProt GO_Central Ensembl |
PMID:1601877 PMID:7487055 PMID:7890749 PMID:10021458 PMID:21873635 |
GO_REF:0000107 MGI:1331265 |
NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
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ST3GAL5 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
involved_in |
IC |
(PMID:9822625) |
UniProt |
PMID:9822625 |
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NCBI chr 2:85,837,120...85,889,034
Ensembl chr 2:85,837,120...85,905,199
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ST6GALNAC3 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 |
involved_in |
IBA |
(PMID:21873635) |
GO_Central |
PMID:21873635 |
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NCBI chr 1:76,074,746...76,637,339
Ensembl chr 1:76,074,746...76,634,603
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ST6GALNAC4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
involved_in |
IBA |
(PMID:21873635) |
GO_Central |
PMID:21873635 |
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NCBI chr 9:127,907,886...127,917,041
Ensembl chr 9:127,907,886...127,917,041
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ST6GALNAC5 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 |
involved_in |
IBA |
(PMID:21873635) |
GO_Central |
PMID:21873635 |
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NCBI chr 1:76,867,480...77,067,546
Ensembl chr 1:76,867,480...77,067,546
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ST6GALNAC6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
acts_upstream_of_or_within involved_in |
ISO IEA ISS IBA |
(MGI:1354410|PMID:10702226) (PMID:21873635) |
MGI Ensembl BHF-UCL GO_Central |
PMID:10702226 PMID:21873635 |
GO_REF:0000024 GO_REF:0000107 MGI:1354410 |
NCBI chr 9:127,885,321...127,906,616
Ensembl chr 9:127,885,321...127,905,408
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ST8SIA2 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 |
involved_in |
IDA |
(PMID:10766765) |
BHF-UCL |
PMID:10766765 |
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NCBI chr15:92,393,881...92,468,728
Ensembl chr15:92,393,881...92,468,728
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ST8SIA3 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 |
involved_in |
IDA IEA |
(PMID:10766765) |
BHF-UCL Ensembl |
PMID:10766765 |
GO_REF:0000107 |
NCBI chr18:57,352,557...57,368,931
Ensembl chr18:57,352,557...57,371,731
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ST8SIA4 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 |
involved_in |
IDA |
(PMID:10766765) |
BHF-UCL |
PMID:10766765 |
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NCBI chr 5:100,806,933...100,903,282
Ensembl chr 5:100,806,933...100,903,282
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ST8SIA6 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 |
involved_in |
IEA ISS |
(PMID:11980897) |
Ensembl BHF-UCL |
PMID:11980897 |
GO_REF:0000107 |
NCBI chr10:17,315,421...17,454,595
Ensembl chr10:17,315,421...17,454,595
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B4GALT5 |
beta-1,4-galactosyltransferase 5 |
involved_in |
ISS IEA |
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr20:49,632,945...49,713,878
Ensembl chr20:49,632,945...49,713,878
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B4GALT6 |
beta-1,4-galactosyltransferase 6 |
involved_in |
IEA ISS |
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Ensembl UniProt |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr18:31,622,246...31,724,641
Ensembl chr18:31,622,246...31,685,836
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C20orf173 |
chromosome 20 open reading frame 173 |
involved_in |
IBA |
(PMID:21873635) |
GO_Central |
PMID:21873635 |
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NCBI chr20:35,520,741...35,529,652
Ensembl chr20:35,523,186...35,529,652
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ST3GAL1 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 1 |
involved_in |
IDA IBA IEA |
(PMID:8027041) (PMID:21873635) |
UniProt GO_Central Ensembl |
PMID:8027041 PMID:21873635 |
GO_REF:0000107 |
NCBI chr 8:133,454,848...133,571,887
Ensembl chr 8:133,454,848...133,571,926
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ST3GAL2 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 2 |
involved_in |
IEA IBA IDA |
(PMID:21873635) (PMID:8920913) |
Ensembl GO_Central UniProt |
PMID:8920913 PMID:21873635 |
GO_REF:0000107 |
NCBI chr16:70,375,977...70,439,100
Ensembl chr16:70,375,977...70,439,237
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ST3GAL3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
involved_in |
IEA |
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Ensembl |
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GO_REF:0000107 |
NCBI chr 1:43,707,536...43,931,159
Ensembl chr 1:43,705,824...43,931,165
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GM2A |
ganglioside GM2 activator |
acts_upstream_of_or_within involved_in |
ISO IEA IBA |
(MGI:894862|PMID:9223328) (PMID:21873635) |
MGI Ensembl GO_Central InterPro |
PMID:9223328 PMID:21873635 |
GO_REF:0000002 GO_REF:0000107 MGI:894862 |
NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440
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HEXA |
hexosaminidase subunit alpha |
acts_upstream_of_or_within involved_in |
ISO IEA IDA IBA |
(MGI:69059|PMID:7937929), (MGI:894862|PMID:9223328) (PMID:8123671), (PMID:8672428), (PMID:9694901) (PMID:21873635) (MGI:1271008|PMID:9645704), (MGI:78473|PMID:8789434) |
MGI Ensembl UniProt GO_Central |
PMID:7937929 PMID:8123671 PMID:8672428 PMID:8789434 PMID:9223328 PMID:9645704 PMID:9694901 PMID:21873635 More...
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GO_REF:0000107 MGI:1271008 MGI:69059 MGI:78473 MGI:894862 |
NCBI chr15:72,340,924...72,376,014
Ensembl chr15:72,340,924...72,376,420
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HEXB |
hexosaminidase subunit beta |
acts_upstream_of_or_within involved_in |
ISO IBA IDA IEA |
(MGI:1271008|PMID:9645704), (MGI:78473|PMID:8789434) (PMID:21873635) (PMID:8123671), (PMID:8672428) (MGI:1331265|PMID:10021458), (MGI:2670850|PMID:12756243), (MGI:3041658|PMID:12657883), (MGI:3573807|PMID:15748167), (MGI:894862|PMID:9223328) (MGI:76816|PMID:8566348) |
MGI GO_Central UniProt Ensembl |
PMID:8123671 PMID:8566348 PMID:8672428 PMID:8789434 PMID:9223328 PMID:9645704 PMID:10021458 PMID:12657883 PMID:12756243 PMID:15748167 PMID:21873635 More...
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GO_REF:0000107 MGI:1271008 MGI:1331265 MGI:2670850 MGI:3041658 MGI:3573807 MGI:76816 MGI:78473 MGI:894862 |
NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647
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NEU1 |
neuraminidase 1 |
involved_in |
IBA |
(PMID:21873635) |
GO_Central |
PMID:21873635 |
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NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
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NEU2 |
neuraminidase 2 |
involved_in |
IDA IBA |
(PMID:14613940), (PMID:22228546) (PMID:21873635) |
UniProt GO_Central |
PMID:14613940 PMID:21873635 PMID:22228546 |
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NCBI chr 2:233,032,672...233,035,057
Ensembl chr 2:233,032,672...233,035,057
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NEU3 |
neuraminidase 3 |
involved_in |
IDA IBA IEA |
(PMID:10861246), (PMID:11298736), (PMID:15847605), (PMID:17334392) (PMID:21873635) |
UniProt GO_Central Ensembl |
PMID:10861246 PMID:11298736 PMID:15847605 PMID:17334392 PMID:21873635 |
GO_REF:0000107 |
NCBI chr11:74,980,515...75,020,676
Ensembl chr11:74,988,279...75,018,893
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NEU4 |
neuraminidase 4 |
involved_in |
IEA IDA IBA |
(PMID:15213228), (PMID:15847605) (PMID:21873635) |
Ensembl UniProt GO_Central |
PMID:15213228 PMID:15847605 PMID:21873635 |
GO_REF:0000107 |
NCBI chr 2:241,809,193...241,817,413
Ensembl chr 2:241,809,065...241,817,413
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ABCA2 |
ATP binding cassette subfamily A member 2 |
involved_in |
ISS |
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UniProt |
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GO_REF:0000024 |
NCBI chr 9:137,007,234...137,028,922
Ensembl chr 9:137,007,234...137,028,915
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CLN6 |
CLN6 transmembrane ER protein |
involved_in |
IMP |
(PMID:16857350) |
UniProt |
PMID:16857350 |
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NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211
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GM2A |
ganglioside GM2 activator |
involved_in |
ISO IEA |
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RGD Ensembl |
PMID:9770472 |
GO_REF:0000107 RGD:1598995 |
NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440
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ITGB8 |
integrin subunit beta 8 |
acts_upstream_of_or_within involved_in |
ISO IEA |
(MGI:3607039|PMID:16251442) |
MGI Ensembl |
PMID:16251442 |
GO_REF:0000107 MGI:3607039 |
NCBI chr 7:20,329,766...20,415,754
Ensembl chr 7:20,330,702...20,415,754
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G |
NAGLU |
N-acetyl-alpha-glucosaminidase |
acts_upstream_of_or_within involved_in |
ISO IEA |
(MGI:4950812|PMID:21408219) |
MGI Ensembl |
PMID:21408219 |
GO_REF:0000107 MGI:4950812 |
NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449
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G |
A4GALT |
alpha 1,4-galactosyltransferase (P blood group) |
acts_upstream_of_or_within involved_in |
ISO IEA |
(MGI:5445364|PMID:22875802) (MGI:3623723|PMID:16476743) |
MGI Ensembl |
PMID:16476743 PMID:22875802 |
GO_REF:0000107 MGI:3623723 MGI:5445364 |
NCBI chr22:42,692,121...42,721,301
Ensembl chr22:42,692,121...42,721,298
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G |
ST3GAL2 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 2 |
involved_in |
IDA |
(PMID:12716912) |
UniProt |
PMID:12716912 |
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NCBI chr16:70,375,977...70,439,100
Ensembl chr16:70,375,977...70,439,237
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G |
GBGT1 |
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) |
involved_in |
ISO |
(PMID:8855242) |
UniProt |
PMID:8855242 |
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NCBI chr 9:133,152,948...133,163,914
Ensembl chr 9:133,152,948...133,163,933
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G |
FA2H |
fatty acid 2-hydroxylase |
involved_in |
IEA ISS |
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Ensembl UniProt |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
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G |
UGCG |
UDP-glucose ceramide glucosyltransferase |
involved_in |
IEA IDA IBA |
(PMID:8643456) (PMID:21873635) |
Ensembl UniProt GO_Central |
PMID:8643456 PMID:21873635 |
GO_REF:0000107 |
NCBI chr 9:111,896,814...111,935,369
Ensembl chr 9:111,896,814...111,935,369
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G |
GBA1 |
glucosylceramidase beta 1 |
involved_in |
IDA IBA IMP IEA |
(PMID:16293621), (PMID:24211208), (PMID:9201993) (PMID:21873635) (PMID:19279011), (PMID:21700325), (PMID:24022302) |
UniProt GO_Central ParkinsonsUK-UCL Ensembl |
PMID:9201993 PMID:16293621 PMID:19279011 PMID:21700325 PMID:21873635 PMID:24022302 PMID:24211208 More...
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GO_REF:0000107 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
GBA2 |
glucosylceramidase beta 2 |
involved_in |
IMP IDA IEA |
(PMID:30308956) (PMID:17080196) |
UniProt InterPro Ensembl |
PMID:17080196 PMID:30308956 |
GO_REF:0000002 GO_REF:0000107 |
NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
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G |
GBA3 |
glucosylceramidase beta 3 (gene/pseudogene) |
NOT|involved_in |
IDA IMP |
(PMID:20728381) (PMID:26724485) (PMID:17595169) |
UniProt |
PMID:17595169 PMID:20728381 PMID:26724485 |
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NCBI chr 4:22,692,937...22,819,569
Ensembl chr 4:22,692,914...22,819,575
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G |
GBA1 |
glucosylceramidase beta 1 |
acts_upstream_of_or_within involved_in |
ISO IEA |
(MGI:3762988|PMID:17954912), (MGI:3795074|PMID:18346921) |
MGI Ensembl |
PMID:17954912 PMID:18346921 |
GO_REF:0000107 MGI:3762988 MGI:3795074 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
PSAP |
prosaposin |
acts_upstream_of_or_within |
ISO |
(MGI:3711591|PMID:17353235) |
MGI |
PMID:17353235 |
MGI:3711591 |
NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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G |
A3GALT2 |
alpha 1,3-galactosyltransferase 2 |
involved_in acts_upstream_of_or_within |
ISO IEA |
(MGI:5445364|PMID:22875802) PMID:10854427 |
RGD Ensembl MGI |
PMID:10854427 PMID:22875802 |
GO_REF:0000107 MGI:5445364 RGD:1299594 |
NCBI chr 1:33,306,766...33,321,098
Ensembl chr 1:33,306,766...33,321,098
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G |
A4GALT |
alpha 1,4-galactosyltransferase (P blood group) |
involved_in |
NAS |
(PMID:10748143) |
UniProt |
PMID:10748143 |
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NCBI chr22:42,692,121...42,721,301
Ensembl chr22:42,692,121...42,721,298
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G |
B4GALNT1 |
beta-1,4-N-acetyl-galactosaminyltransferase 1 |
involved_in |
ISO |
PMID:1606358 |
UniProt |
PMID:1606358 |
RGD:21201272 |
NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
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G |
B4GALT6 |
beta-1,4-galactosyltransferase 6 |
involved_in |
ISO IEA IBA |
(PMID:21873635) |
RGD Ensembl GO_Central |
PMID:9593693 PMID:21873635 |
GO_REF:0000107 RGD:70807 |
NCBI chr18:31,622,246...31,724,641
Ensembl chr18:31,622,246...31,685,836
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G |
FUT4 |
fucosyltransferase 4 |
involved_in |
IDA |
(PMID:29593094) |
UniProt |
PMID:29593094 |
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NCBI chr11:94,543,921...94,549,895
Ensembl chr11:94,543,921...94,549,895
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G |
FUT6 |
fucosyltransferase 6 |
involved_in |
IDA |
(PMID:29593094) |
UniProt |
PMID:29593094 |
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NCBI chr19:5,830,408...5,839,702
Ensembl chr19:5,830,408...5,839,722
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G |
FUT9 |
fucosyltransferase 9 |
involved_in |
IDA |
(PMID:29593094) |
UniProt |
PMID:29593094 |
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NCBI chr 6:96,015,974...96,215,612
Ensembl chr 6:96,015,974...96,215,612
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G |
LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
involved_in |
TAS |
(PMID:9892679) |
UniProt |
PMID:9892679 |
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NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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G |
ST3GAL5 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
involved_in |
TAS |
(PMID:10092602) |
PINC |
PMID:10092602 |
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NCBI chr 2:85,837,120...85,889,034
Ensembl chr 2:85,837,120...85,905,199
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G |
ST6GALNAC5 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 |
involved_in |
ISS |
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BHF-UCL |
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GO_REF:0000024 |
NCBI chr 1:76,867,480...77,067,546
Ensembl chr 1:76,867,480...77,067,546
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G |
ST8SIA1 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 |
involved_in |
TAS |
(PMID:8195250) |
PINC |
PMID:8195250 |
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NCBI chr12:22,193,391...22,334,707
Ensembl chr12:22,063,773...22,437,041
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G |
ST8SIA3 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 |
involved_in |
TAS |
(PMID:9073076) |
PINC |
PMID:9073076 |
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NCBI chr18:57,352,557...57,368,931
Ensembl chr18:57,352,557...57,371,731
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G |
ST8SIA5 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 |
involved_in |
ISS IEA TAS |
(PMID:9199191) |
UniProt Ensembl PINC |
PMID:9199191 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr18:46,667,821...46,757,053
Ensembl chr18:46,667,821...46,759,257
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G |
TM9SF2 |
transmembrane 9 superfamily member 2 |
involved_in |
IMP |
(PMID:30660999) |
UniProt |
PMID:30660999 |
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NCBI chr13:99,501,472...99,564,048
Ensembl chr13:99,446,311...99,564,048
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G |
GLA |
galactosidase alpha |
involved_in |
IMP TAS IDA |
(PMID:10838196) (PMID:2160973) (PMID:8804427) |
UniProt |
PMID:2160973 PMID:8804427 PMID:10838196 |
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NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012
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G |
GBA3 |
glucosylceramidase beta 3 (gene/pseudogene) |
involved_in |
IBA |
(PMID:21873635) |
GO_Central |
PMID:21873635 |
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NCBI chr 4:22,692,937...22,819,569
Ensembl chr 4:22,692,914...22,819,575
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G |
GLA |
galactosidase alpha |
acts_upstream_of_or_within involved_in |
ISO ISS |
(MGI:1860035|PMID:10840053), (MGI:3525994|PMID:15629890) (MGI:1859538|PMID:10841515), (MGI:2155538|PMID:11752062), (MGI:86774|PMID:9122231) |
MGI UniProt |
PMID:9122231 PMID:10840053 PMID:10841515 PMID:11752062 PMID:15629890 |
GO_REF:0000024 MGI:1859538 MGI:1860035 MGI:2155538 MGI:3525994 MGI:86774 |
NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012
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G |
LCT |
lactase |
involved_in |
ISS |
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UniProt |
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GO_REF:0000024 |
NCBI chr 2:135,787,850...135,837,184
Ensembl chr 2:135,787,850...135,837,184
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G |
ST6GALNAC3 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 |
involved_in |
IDA |
(PMID:17123352) |
BHF-UCL |
PMID:17123352 |
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NCBI chr 1:76,074,746...76,637,339
Ensembl chr 1:76,074,746...76,634,603
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G |
ST6GALNAC6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
involved_in |
IDA |
(PMID:17123352) |
BHF-UCL |
PMID:17123352 |
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NCBI chr 9:127,885,321...127,906,616
Ensembl chr 9:127,885,321...127,905,408
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G |
B4GALT4 |
beta-1,4-galactosyltransferase 4 |
involved_in |
IDA |
(PMID:9792633) |
UniProt |
PMID:9792633 |
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NCBI chr 3:119,211,742...119,240,878
Ensembl chr 3:119,211,732...119,240,946
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G |
B4GALT6 |
beta-1,4-galactosyltransferase 6 |
involved_in |
IDA |
(PMID:10320813) |
BHF-UCL |
PMID:10320813 |
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NCBI chr18:31,622,246...31,724,641
Ensembl chr18:31,622,246...31,685,836
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G |
PRKAA1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
involved_in |
NAS |
(PMID:11165240) |
UniProt |
PMID:11165240 |
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NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
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G |
PRKCD |
protein kinase C delta |
involved_in |
IMP |
(PMID:19279011) |
BHF-UCL |
PMID:19279011 |
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NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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Term paths to the root
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