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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **3101 - 3125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:9839	accommodative esotropia	ELOVL6	79071	Homo sapiens (human)	DisGeNET
DOID:0110210	Charcot-Marie-Tooth disease X-linked recessive 5 Aliases: CMT5X CMTX5 Charcot-Marie-Tooth neuropathy X-linked recessive 5 Rosenberg-Chutorian syndrome X-linked Charcot-Marie-Tooth disease type 5 optic atrophy, polyneuropathy, and deafness	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110403	retinitis pigmentosa 13 Aliases: RP13	PAFAH1B1	5048	Homo sapiens (human)	DisGeNET
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	9126	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8162	thyroid Hurthle cell adenoma Aliases: benign oncocytoma of the thyroid	NCAM1	4684	Homo sapiens (human)	DisGeNET
DOID:0110340	osteogenesis imperfecta type 4 Aliases: OI4 osteogenesis imperfecta type IV osteogenesis imperfecta with normal sclera	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0080484	peroxisome biogenesis disorder 10A Aliases: peroxisome biogenesis disorder 10A (Zellweger)	AGA	175	Homo sapiens (human)	DisGeNET
DOID:3205	melanotic neurilemmoma Aliases: Melanotic Schwannoma Pigmented Neurilemmoma Pigmented schwannoma	ARSA B3GAT1 CAT CD44 CYP2E1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN PTGS2 SIGLEC7 STS TMEM165 VCAN	1462 1571 27036 27087 410 412 4684 5290 5291 5293 5294 55858 5621 5728 5743 847 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0060055	popliteal pterygium syndrome Aliases: facio-genito-popliteal syndrome popliteal web syndrome	B3GLCT POFUT2	145173 23275	Homo sapiens (human)	DisGeNET
DOID:10047	nodular malignant melanoma Aliases: nodular melanoma	MTAP	4507	Homo sapiens (human)	DisGeNET
DOID:0050547	familial medullary thyroid carcinoma Aliases: THYROID CARCINOMA, FAMILIAL MEDULLARY	CEACAM5 FUT4 MCAT NTM	1048 2526 27349 50863	Homo sapiens (human)	DisGeNET
DOID:885	fascioliasis Aliases: Fasciola hepatica infection Infection by Fasciola Liver flukes Sheep liver fluke infection	HPGDS PSAP SLC17A5	26503 27306 5660	Homo sapiens (human)	DisGeNET
DOID:4944	gastroesophageal junction adenocarcinoma Aliases: adenocarcinoma of Cardioesophageal junction	HPGDS NEU1 PTEN PTGS2 SMUG1	23583 27306 4758 5728 5743	Homo sapiens (human)	DisGeNET
DOID:0080204	renal hypoplasia	B3GLCT COMT	1312 145173	Homo sapiens (human)	DisGeNET
DOID:4838	myoepithelial carcinoma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:9368	keratoconjunctivitis	ALOX12B ARSA CAT CD38 CERS3 CHI3L1 CLEC4E CLEC7A OLR1 PLA2G1B PLA2G2A PLA2G6 PLB1 PLD3 SIRT6 TLR2	1116 151056 204219 23646 242 26253 410 4973 51548 5319 5320 64581 7097 8398 847 952	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060868	leukoencephalopathy with vanishing white matter Aliases: CACH CACH/VWM childhood ataxia with central nervous system hypomyelination vanishing white matter leukodystrophy	ACOT12 APRT CHST11 GBA1 HAS2 MICA SCP2 SOAT1	100507436 134526 2629 3037 353 50515 6342 6646	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050797	peroxisomal acyl-CoA oxidase deficiency Aliases: Peroxisomal acyl-coenzyme A oxidase	ACOX1	51	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3074	giant cell glioblastoma Aliases: Monstrocellular sarcoma	ABO ACACA ACACB ACAT1 ACE ACOT7 ACSL5 ACSS2 AGXT AKR1B10 AKR1B1 ALDH1A3 ALDH3A1 ALDH7A1 ALG2 ALOX5 ALPI ALPP ANXA5 ANXA7 APRT ARF4 ARSA ART1 ASAH1 ATP6AP2 ATP6V0A2 B3GAT1 B3GNT5 B4GALNT1 BAAT BCAN BDH2 CALR CANX CAT CBR1 CD109 CD14 CD22 CD248 CD33 CD38 CD44 CD74 CD93 CDH13 CDS1 CEACAM5 CEACAM7 CERS2 CH25H CHAT CHI3L1 CHPT1 CHST15 CHSY1 CLEC18B CLEC5A CMAS CNTN2 CNTN3 CPT1A CPT1C CS CSPG4 CYB5R2 CYP17A1 CYP19A1 CYP1B1 CYP27A1 CYP27B1 CYP2B6 CYP2E1 CYP46A1 DAG1 DBT DCN DEGS1 DGKA DGKI DGKZ DHCR24 DHDDS DLD EBP ECHS1 EFNA2 ELOVL2 ENO1 ENO2 ENPP1 ENPP2 EXTL3 FADS2 FASN FBP1 FDFT1 FDPS FMOD FOLR1 FUT4 G6PC1 GALNT14 GALNT7 GAPDH GAS1 GFPT1 GLB1 GLO1 GLUL GML GOLPH3 GPC1 GPD1 GPI GPNMB GPX3 HACD1 HK1 HK2 HMMR HPGDS HPSE HSD3B7 HSPG2 ICAM1 IDH1 IDH2 IDUA IL18R1 INPP5B INPP5K INPPL1 KL KLRC3 KLRK1 L1CAM L2HGDH LDHA LGALS1 LGALS3 LGALS8 LGALS9 LSS MAN2A1 MCAT ME1 ME2 MGAT1 MGAT5 MICA MMP25 MMUT MPG MRC1 MSLN MTAP NAMPT NANS NCAM1 NDST1 NEIL3 NEU1 NEU3 NEU4 NT5E OCRL OGA OLR1 OPCML PAFAH1B1 PARG PARP1 PARP3 PCYT1A PDIA3 PFKFB2 PFKFB3 PFKFB4 PFKM PGAM1 PGK1 PI4K2A PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKD2 PKM PLA2G4A PLAUR PLCB1 PLCG1 PLD2 PLOD3 PLPP1 PLPP3 PNP POMGNT1 PPT1 PRKAA2 PRNP PRPS1 PSAP PTEN PTGDS PTGS1 PTGS2 RECK RTN4R SDC1 SDC2 SDHA SELP SGMS1 SIGLEC9 SIRT2 SIRT6 SLC2A3 SLC35F1 SLC37A4 SLC3A1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST8SIA1 ST8SIA4 STS SUCLG1 SULF1 SULF2 SYNJ1 SYNJ2 THEM4 TIGAR TKT TKTL1 TM7SF2 TNFRSF10C TNKS TPI1 TREH TUSC3 TYMP UGCG UGDH UGP2 ULBP1 UMOD UNG VCAM1 VNN2 VTCN1	10039 100507436 1012 10135 10159 10232 1040 10457 1048 10682 10724 10825 10855 10858 1087 1103 1116 11181 11332 117145 126129 129807 135228 1374 142 1431 1464 1545 1555 1571 1586 1588 1593 1594 1605 1606 1629 1634 1636 1718 1738 189 1890 1892 1943 2023 2026 2137 218 2194 220 2203 2222 2224 222553 22856 22914 22918 22933 231 23213 23236 2331 2348 23545 23583 23601 240 248 250 2526 2538 2542 2583 259230 2597 2619 2673 27087 27180 2720 27306 27349 2739 2752 2765 28 2817 2819 2821 2878 2923 29956 308 3098 3099 31 310 3161 32 3339 3340 3383 3417 3418 3425 353 3633 3636 378 38 3823 3897 3939 3956 3958 3964 3965 4047 410 412 4124 417 4199 4200 4245 4249 427 4350 4360 4507 4594 4684 4758 4860 4907 4952 497190 4973 4978 501 5048 5067 5130 51363 51548 5167 5168 51700 51703 51763 51809 5208 5209 5210 5213 5223 5230 5287 5289 5290 5291 5293 5294 5305 5310 5311 5315 5321 5329 5335 5338 54187 54898 55247 55361 5538 5552 55624 5563 55902 55907 55959 5621 5631 5660 56848 56898 56994 570 57016 57103 57124 5728 5730 5742 5743 6382 63827 6383 6389 6403 64083 64386 6480 6489 65078 6515 6519 6646 6900 7086 7108 7167 7357 7358 7360 7369 7374 7412 7903 79623 79679 7991 79944 79947 80270 80329 811 821 8277 84002 8434 847 8505 8525 85365 8560 8611 8613 8658 873 8794 8802 8809 8867 8871 8875 8877 8985 9023 9162 9200 929 933 9365 9415 945 952 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	GPI KL	2821 9365	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:303	substance-related disorder	ABAT ACACA ACE ACHE ACSS2 ADH1A ADH1C ADH4 ADH7 AKR1A1 ALDH2 AMY1A AMY1B AMY1C ARSD ARSF CD38 CDH13 CDS1 CEACAM5 CEACAM7 CEL CERS6 CHPT1 COLEC12 COMT CYP1A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 DBT DEGS1 DHDDS EHHADH ENO1 GAD1 GAL3ST1 GBA3 GPX1 GSK3B HACD1 HSD11B2 LGALS1 MACROD2 MAG MDH2 MGLL NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PLA2R1 PLCB1 PNP PTEN SARM1 SLC35A1 ST8SIA4 UGT2B17 XYLT1	1012 10327 1040 1048 10559 1056 1087 11343 124 126 127 131 1312 140733 1544 1555 1557 1559 1571 1629 1636 18 1962 2023 217 22925 23098 23236 23659 253782 2571 276 277 278 2876 2932 31 3291 3956 4099 414 416 4191 43 4684 4860 5290 5291 5293 5294 55902 56994 5728 57733 64131 7367 7903 79947 81035 83666 8560 9200 9514 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:14669	acrodysostosis	APRT ENO1	2023 353	Homo sapiens (human)	DisGeNET
DOID:9146	visceral leishmaniasis Aliases: Infection by visceral leishmaniasis Kala-Azar	ACSS2 APRT CD14 CD44 CYP51A1 DPAGT1 FCN2 FH G6PD GAPDH GCK H6PD INPP5D LGALS1 LGALS3 LPL MBL2 MPG MRC1 NCAM1 PIGZ PIK3CA PIK3CB PIK3CD PRKAA2 SELL SLC17A5 SMPD2 SMUG1 SOAT1 TNF UNG	1595 1798 2220 2271 23583 2539 2597 2645 26503 353 3635 3956 3958 4023 4153 4350 4360 4684 5290 5291 5293 5563 55902 6402 6610 6646 7124 7374 80235 929 9563 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060673	Peters anomaly	B3GALNT2 B3GLCT B4GAT1 CHST14 CRPPA CYP1B1 DAG1 EBP FKRP FKTN HSPG2 LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SC5D SMC3	10329 10585 10682 11041 113189 145173 148789 1545 1605 2218 29954 3339 55624 6309 729920 79147 84197 84892 9126 9215	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1252	trichuriasis Aliases: Infection by Trichuris trichura Trichuriasis infection Whipworm disease trichuris trichiura infection	ACACA	31	Homo sapiens (human)	DisGeNET

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