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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 **2551 - 2575** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110474	autosomal recessive nonsyndromic deafness 18B Aliases: DFNB18B autosomal recessive deafness 18B	Otog	18419	Mus musculus (house mouse)
DOID:13207	proliferative diabetic retinopathy Aliases: PDR	Rbp4	25703	Rattus norvegicus (Norway rat)
DOID:0070256	congenital disorder of glycosylation type IId Aliases: CDG IId CDG2D CDGIId	b4galt1 b4galt1l	550425 768123	Danio rerio (zebrafish)
DOID:0110264	cataract 33 Aliases: CTRCT33	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2 Aliases: EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 Ehlers-Danlos syndrome progeroid type	beta3GalTII	35848	Drosophila melanogaster (fruit fly)
DOID:0060260	ptosis Aliases: blepharoptosis drooping eyelid	ADPRS AGRN ALDOA ALG14 ALG2 ATP6V1A B3GLCT CHAT COLEC10 COLEC11 COMT DLAT DPAGT1 EBP ECHS1 GCK GFPT1 GMPPB HACD1 HS6ST1 IDS INPP5E MASP1 MTM1 MTMR14 NGLY1 PDHA1 PIGL PIGQ PLCB4 PTEN SC5D SDHA SDHD SGPL1 SLC17A5 SLC3A1 SMC3 SUCLA2 SYNJ1 TYMP	10584 10682 1103 1312 145173 1737 1798 1890 1892 199857 226 2645 26503 2673 29925 3423 375790 4534 5160 523 5332 54936 55768 5648 56623 5728 6309 6389 6392 64419 6519 78989 85365 8803 8867 8879 9091 9126 9200 9394 9487	Homo sapiens (human)
DOID:0110637	muscular dystrophy-dystroglycanopathy type B6 Aliases: MDC1D MDDGB6 congenital muscular dystrophy LARGE-related congenital muscular dystrophy type 1D muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	large1	100498555	Xenopus tropicalis (tropical clawed frog)
DOID:13902	white piedra Aliases: Tinea blanca	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1	1557 1595 28 30835 3956 4153 4360 51267 523 64581 847 929	Homo sapiens (human)
DOID:8283	peritonitis Aliases: Retractile mesenteritis acute generalized peritonitis primary bacterial peritonitis sclerosing mesenteritis	ALDOB GUSB TNF	229 2990 7124	Homo sapiens (human)
DOID:2987	familial mediterranean fever Aliases: FMF benign paroxysmal peritonitis	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:9970	obesity	AACS ABO ACACA ACACB ACADM ACADVL ACAN ACAT1 ACE ACHE ACLY ACOX1 ACSL1 ACSL4 ACSL5 ACSM3 ACSS2 ADH1B ADIPOQ ADRB3 AGPAT2 AKR1A1 AKR1B1 AKR1C1 AKR1C2 AKR1C3 AKT2 ALDH1B1 ALDH2 ALDH6A1 ALDOB ALG13 ALOX12 ALOX5 ALPL AMACR AMY1A AMY1B AMY1C APOD APRT ARSA ARSD ASAH1 ASAH2 ATP6AP2 ATRN B4GALT5 BAAT BAD CA4 CALR CANX CAT CBR1 CD14 CD1D CD248 CD33 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEL CEPT1 CERK CERS6 CHGA CHI3L1 CHIT1 CHPT1 CHST3 CLEC7A CMAS CNTN3 CNTN4 COMT CPT1A CPT1C CPT2 CS CYP11A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP4F2 CYP4F3 CYP7A1 DAG1 DCN DEGS1 DEGS2 DGAT1 DGAT2 DGKE DGKG EBP ECHS1 ELOVL5 ELOVL6 ENO2 ENPP1 ENPP2 FADS1 FADS2 FASN FCGR3B FDFT1 FDPS G6PC1 G6PD GAD2 GAL3ST1 GALNT2 GAPDH GCK GFPT1 GGT1 GHRL GK GLB1 GLDC GLO1 GLUL GNPDA2 GPAM GPAT3 GPCPD1 GPD1 GPIHBP1 GPX1 GPX3 H6PD HADH HADHA HAS2 HEXA HGSNAT HJV HK1 HK2 HMGCS1 HPGDS HPSE HS6ST1 HS6ST3 HSD11B1 HSD11B2 HSD17B12 HSD17B1 HSD17B3 HSD17B4 HSPG2 HTR2A ICAM1 IDH3A IDH3B IL1R1 IL1RAP IL1RAPL1 INPP5E INPPL1 ITLN1 KHK KL KLB LALBA LCAT LCT LEP LEPR LGALS1 LGALS3 LIPA LIPC LIPG LPGAT1 LPIN1 LPIN2 LPIN3 LPL LY75 MACROD2 MBL2 MBOAT7 MCAT ME1 MGAM MGAT1 MGAT2 MGLL MIOX MLYCD MMUT MOGS MRC1 MSMO1 MTMR14 NAAA NAMPT NANS NCAM1 NDUFAB1 NEIL1 NPY1R OGA OGG1 OGT OLR1 OXCT1 PARP1 PARP2 PARP9 PC PCK1 PCK2 PDX1 PEMT PFKFB3 PFKP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G15 PLA2G2A PLA2G2E PLA2G4A PLA2G5 PLA2G7 PLAUR PLB1 PLCB1 PLCB2 PLCB3 PLD1 PNLIP PNPLA2 PNPLA3 PNPLA6 POMGNT1 PPARA PPARGC1A PPP1R3B PPP1R3G PRKAA1 PRKAA2 PRNP PTEN PTGDS PTGES2 PTGES PTGS1 PTGS2 RBP4 RENBP RGMA SCD SCP2 SDC1 SDC2 SDC3 SELP SERPINA12 SFTPA1 SFTPA2 SFTPD SGMS2 SGPL1 SI SIGLEC12 SIRT2 SIRT4 SIRT6 SLC17A5 SLC27A5 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35B2 SLC35D3 SLC35G1 SLC37A4 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRD5A1 ST6GAL1 STS SUCLA2 SULF2 SULT1E1 TIGAR TKTL1 TLR4 TM7SF2 TNF TNKS UCP2 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 VCAM1 WDTC1 XXYLT1 XYLT2	10038 1012 10135 10159 10327 10390 10400 1048 10555 10559 1056 10682 10724 10855 10891 10908 10998 1113 11141 1116 1118 11343 120227 123099 125 126129 1312 132789 1374 1376 138050 140733 142 1431 145264 148738 151056 152002 152330 152831 1543 1544 1545 155 1555 1559 1571 1576 1581 1583 1588 1589 1591 1593 159371 1594 1605 1608 1634 1636 1645 1646 166929 176 1892 2026 208 217 2180 2182 219 2194 2215 2222 2224 229 22933 23038 231 23175 23236 23409 23417 23583 23600 23659 239 240 249 253782 2538 2539 2542 2572 2590 2597 2645 26503 266722 2673 2678 2710 27163 2720 27306 2731 27349 2739 2752 276 277 278 28 2819 2876 2878 3030 3033 3037 3073 30814 3098 3099 31 3157 32 3290 3291 3292 3293 3295 3339 3356 3383 338328 34 340146 3419 3420 347 347734 353 3554 3556 3636 3651 37 3795 38 3906 3931 3938 3952 3953 3956 3958 3988 3990 3992 4023 4051 4065 410 412 414 4153 4199 4245 4247 427 43 4329 4360 4594 4684 47 4706 4886 4968 4973 5019 5067 5091 51 5105 5106 51144 51548 5167 5168 51703 51738 5209 5214 5290 5291 5293 5294 5310 5315 5320 5321 5322 5329 5330 5331 5337 5406 54187 54575 54576 54577 54578 54579 54600 5465 54657 54658 54659 55586 55600 5562 55624 5563 55902 55907 55959 5621 56261 56623 56624 56848 56963 56994 570 57103 57104 57124 572 5728 5730 5742 5743 57678 5950 5973 60481 6296 6307 6319 6342 6382 6383 6403 64132 6441 64419 64581 6476 64781 6480 648791 64900 6513 6514 6515 6517 6518 6523 653509 65985 6609 6646 6715 6783 7099 7108 7124 729238 7351 7412 762 7841 79071 79143 7941 79660 79661 79868 80142 80339 811 821 8277 83666 8455 84649 847 8473 84803 8526 8529 8560 8644 8658 8694 873 8803 8877 8879 8972 89858 912 9197 929 9334 9365 9370 9388 9394 9415 945 9469 9514 952 9536 9563 960 962 9663 9672 972 9926	Homo sapiens (human)
DOID:0080037	Worth syndrome Aliases: Worth's syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis benign form of Worth hyperostosis corticalis generalisata with torus platinus	LRP5	4041	Homo sapiens (human)
DOID:0110498	autosomal recessive nonsyndromic deafness 4 Aliases: DFNB4 autosomal recessive deafness 4 with enlarged vestibular aqueduct	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP RENBP SMUG1 TECTA	135228 146183 220074 22856 23583 25839 340990 410 50 51 5660 5973 7007	Homo sapiens (human)
DOID:219	colon cancer	Akt1 Bad Gsk3b Hs3st2 Prkaa1	24185 293451 64639 65248 84027	Rattus norvegicus (Norway rat)
DOID:4195	hyperglycemia	Adrb1 Akr1b1 Gck Htr2a Ldha Lepr Pdx1 Pklr Ppargc1a	24192 24385 24533 24536 24651 24925 29535 29595 83516	Rattus norvegicus (Norway rat)
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	BRAF CFC1	55997 673	Homo sapiens (human)
DOID:9741	biliary tract disease	CD14 CYP3A4 LYZ PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 VCAM1	10908 1576 4069 5290 5291 5293 5294 7412 929	Homo sapiens (human)
DOID:13141	uveitis	Tl	43222	Drosophila melanogaster (fruit fly)
DOID:0050524	maturity-onset diabetes of the young Aliases: MODY Mason-type diabetes	Hex-t1	117364	Drosophila melanogaster (fruit fly)
DOID:2537	inflammatory and toxic neuropathy	Htr2a	29595	Rattus norvegicus (Norway rat)
DOID:3892	insulinoma Aliases: Insulin-Producing tumor of Islet cells Islet cell adenoma	Ins1 Ins2	16333 16334	Mus musculus (house mouse)
DOID:0110704	hypotrichosis 7 Aliases: Hypt7 Lah2 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis,	GLB1 PTGS2	2720 5743	Homo sapiens (human)
DOID:9245	Alagille syndrome Aliases: Alagille-Watson syndrome Arteriohepatic dysplasia	N	31293	Drosophila melanogaster (fruit fly)
DOID:9296	cleft lip Aliases: Labium leporinum cheiloschisis cleft lip, unilateral, complete complete unilateral cleft lip hare lip	pomt1	448433	Xenopus tropicalis (tropical clawed frog)
DOID:7327	pseudosarcomatous fibromatosis Aliases: Fasciitis - nodular Pseudosarcomatous Fasciitis nodular fasciitis	ACADM ACADVL CPT2 CYP2C8 DCN DPAGT1 FKRP HADHA HADHB HSPG2 LDHA PFKM PGAM2 PGK1 PLA2G2A PLA2G6 PTGS2 PYGM SOAT1	1376 1558 1634 1798 3030 3032 3339 34 37 3939 5213 5224 5230 5320 5743 5837 6646 79147 8398	Homo sapiens (human)

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