GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2801 - 2825** of **4621** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	CAT CNTN4 ELOVL4 ELOVL5 ENPP2 GLO1 HPGDS HSD17B6 MPI OGA PLA2G1B PLA2G2A PLA2G6 PLB1 PNPLA6 PRNP SDHC SPTLC3 SUMF1 TREH	10724 10908 11181 151056 152330 27306 2739 285362 4351 5168 5319 5320 55304 5621 60481 6391 6785 8398 847 8630	Homo sapiens (human)
DOID:6725	spinal stenosis Aliases: Spinal stenosis of lumbar region cervical spinal stenosis lumbar spinal stenosis	CAT COL9A2 GOLPH3 LSS PTGS2	1298 4047 5743 64083 847	Homo sapiens (human)
DOID:0110843	xeroderma pigmentosum group A Aliases: XP group A XP1 XPA xeroderma pigmentosum 1 xeroderma pigmentosum complementation group A	CAT COMT CYP1A1 CYP1B1 HPGDS HPRT1 OGG1 PARP1 PTEN PTGS2 SMUG1 TALDO1 XYLT2	1312 142 1543 1545 23583 27306 3251 4968 5728 5743 64132 6888 847	Homo sapiens (human)
DOID:0110845	xeroderma pigmentosum group D Aliases: XP group D XP group H XP4 XP8 XPD XPDC XPH xeroderma pigmentosum IV xeroderma pigmentosum VIII	CAT COMT CYP1B1 HPGDS HPRT1 ICAM1 OGG1 PTEN SLC35A2 SMUG1 TALDO1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 XYLT2	1312 1545 23583 27306 3251 3383 4968 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 5728 64132 6888 7355 847	Homo sapiens (human)
DOID:0110844	xeroderma pigmentosum group C Aliases: XP group C XP3 XPC XPCC xeroderma pigmentosum III	CAT COMT CYP1B1 HPGDS HPRT1 MPG OGG1 PIK3CA PIK3CD PIK3CG PTEN PTGS2 SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4350 4968 5290 5293 5294 5728 5743 64132 6888 847	Homo sapiens (human)
DOID:0110850	xeroderma pigmentosum group B Aliases: XP group B XPB XPBC	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:0050427	xeroderma pigmentosum	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:0110848	xeroderma pigmentosum group F Aliases: XP group F XP6 XPF xeroderma pigmentosum VI	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:0110846	xeroderma pigmentosum group E Aliases: XP group E XP5 XPE xeroderma pigmentosum V	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:0110847	xeroderma pigmentosum variant type Aliases: XPV photosensitivity with defective DNA synthesis xeroderma pigmentosum with normal DNA repair rates	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:0110849	xeroderma pigmentosum group G Aliases: XP group G XP7 XPG xeroderma pigmentosum VII	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:8741	seborrheic dermatitis Aliases: SKIN SEBORRHEIC Seborrhoeic dermatitis Seborrhoeic eczema seborrhea	CAT COMT LGALS3 NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG TLR2	1312 3958 4913 5290 5291 5293 5294 7097 847	Homo sapiens (human)
DOID:0090116	spondylocarpotarsal synostosis syndrome Aliases: SCT congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition	CAT CS G6PD ICAM1 VCAM1	1431 2539 3383 7412 847	Homo sapiens (human)
DOID:12528	lesion of sciatic nerve	CAT CYP11A1 CYP17A1 GFRA1 HSD3B1 ICAM1 MAG RGMA	1583 1586 2674 3283 3383 4099 56963 847	Homo sapiens (human)
DOID:47	prostate disease	CAT CYP17A1 CYP19A1 FMOD GLCE GPX1 PTEN SRD5A2 TM7SF2	1586 1588 2331 26035 2876 5728 6716 7108 847	Homo sapiens (human)
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	CAT CYP19A1 IGF2R TP53	1588 3482 7157 847	Homo sapiens (human)
DOID:0111228	Sveinsson chorioretinal atrophy Aliases: HPCD SCRA atrophia areata helicoid peripapillary chorioretinal degeneration peripapillary chorioretinal degeneration, Icelandic type	CAT CYP1B1 CYP2C19 ENO2 GAD1 GPNMB GPX3 IDS IGF2R MRC1 PIK3CA PIK3CD PIK3CG RPE	10457 1545 1557 2026 2571 2878 3423 3482 4360 5290 5293 5294 6120 847	Homo sapiens (human)
DOID:9663	aphthous stomatitis Aliases: Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer	CAT CYP21A2 ENO1 GTDC1 LGALS1 LYZ SLC37A4 VCAM1	1589 2023 2542 3956 4069 7412 79712 847	Homo sapiens (human)
DOID:355	mast-cell sarcoma	CAT CYP24A1	1591 847	Homo sapiens (human)
DOID:9637	stomatitis	CAT CYP2B6 FCGR3B MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PPT1 PSAP PTGS2 UGT1A1 UNG	100507436 142 1555 2215 5290 5291 5293 5294 54658 5538 5660 5743 7374 847	Homo sapiens (human)
DOID:14773	cartilage-hair hypoplasia Aliases: CHH McKusick type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type	CAT CYP3A4 EBP HS6ST1 KLB	10682 152831 1576 847 9394	Homo sapiens (human)
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	CAT CYP3A5 PTGES3 ST8SIA1	10728 1577 6489 847	Homo sapiens (human)
DOID:600	animal phobia Aliases: Fear of animals Zoophobia	CAT DDOST	1650 847	Homo sapiens (human)
DOID:599	specific phobia Aliases: simple phobia	CAT DDOST	1650 847	Homo sapiens (human)
DOID:2253	cervix disease	CAT DGCR2 HPGDS MMUT PIK3CA RECK ST6GALNAC5	27306 4594 5290 81849 8434 847 9993	Homo sapiens (human)

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