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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 **2826 - 2850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	CHST3 FAM20B PGM3 XYLT1 XYLT2	5238 64131 64132 9469 9917	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090023	split hand-foot malformation 4 Aliases: SHFM4	QTRT1 UGT8	7368 81890	Homo sapiens (human)	DisGeNET
DOID:0040099	livedoid vasculitis Aliases: livedoid vasculopathy	AGA FUCA1 NEU1 PTEN	175 2517 4758 5728	Homo sapiens (human)	DisGeNET
DOID:3765	pseudohermaphroditism Aliases: Indeterminate sex and pseudohermaphroditism	AKR1C1 AKR1C2 AKR1C3 AKR1C4 CDIPT CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP2B6 DHCR24 DHRS11 GAS1 HSD17B3 HSD17B7 HSD3B1 HSD3B2 MECR PGD PKD2 PRSS21 SRD5A2	10423 10942 1109 1555 1583 1584 1586 1588 1589 1645 1646 1718 2619 3283 3284 3293 51102 51478 5226 5311 6716 79154 8644	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:3635	congenital myasthenic syndrome	ACHE AGRN ALG14 ALG2 B3GAT1 CHAT DPAGT1 GFPT1 GMPPB SEMA7A SLC25A1	1103 1798 199857 2673 27087 29925 375790 43 6576 8482 85365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:422	congenital structural myopathy	ACHE B4GAT1 CD38 CHAT CHKB CLEC10A CYP19A1 FKRP FKTN GFPT1 GMPPB HACD1 IDS LARGE1 MTM1 MTMR14 MTMR1 MTMR2 OVGP1 POMGNT1 POMT1 SIRT4 SLC2A4	10462 10585 1103 11041 1120 1588 2218 23409 2673 29925 3423 43 4534 5016 55624 64419 6517 79147 8776 8898 9200 9215 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070119	Meckel syndrome 5 Aliases: MKS5 Meckel-Gruber syndrome, type 5	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)	DisGeNET
DOID:1856	cherubism	ACAN APRT B3GALT6 B3GAT1 DCN EXT1 EXT2 EXTL3 HPSE IDH1 IDH2 PLCG2 PTEN PTGS2 SMUG1 TNKS	10855 126792 1634 176 2131 2132 2137 23583 27087 3417 3418 353 5336 5728 5743 8658	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J Aliases: LGMD2J muscular dystrophy, limb-girdle, type 2J	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110241	cataract 41 Aliases: CTRCT41 congenital nuclear type cataract 41	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)	DisGeNET
DOID:0070128	congenital nongoitrous hypothyroidism 6 Aliases: CHNG6	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)	DisGeNET
DOID:0110245	cataract 38 Aliases: CATC5 CTRCT38 autosomal recessive congenital cataract 5	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)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:7763	carcinoma of supraglottis Aliases: Supraglottic carcinoma	PTEN	5728	Homo sapiens (human)	DisGeNET
DOID:0111453	2-aminoadipic 2-oxoadipic aciduria Aliases: AMOXAD alpha-aminoadipic aciduria	DHTKD1	55526	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081122	Catel Manzke syndrome Aliases: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Micrognathia digital syndrome	TGDS	23483	Homo sapiens (human)	Alliance of Genome Resources
DOID:4488	sarcomatoid mesothelioma Aliases: malignant fibrous mesothelioma spindled mesothelioma	MTAP	4507	Homo sapiens (human)	DisGeNET
DOID:0110980	Joubert syndrome 1 Aliases: CORS1 CPD4 JBTS1 cerebellooculorenal syndrome 1 cerebelloparenchymal disorder IV	GYS2 INPP5B INPP5E SYNJ1 SYNJ2	2998 3633 56623 8867 8871	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:5517	stomach carcinoma Aliases: cancer of the stomach carcinoma of stomach gastric carcinoma	A4GNT ABO ACACA ACE ACHE ACLY ACO2 ACSL4 ACSS2 ACSS3 ACYP2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AGA AKR1A1 AKR1B10 AKR1B1 AKR1C3 ALDH1A3 ALDH2 ALDH7A1 ALDOB ALOX12 ALOX15 ALOX5 ALPP AMY2A ANXA4 ANXA5 ANXA7 APRT ARSF ARSI ATP6V1A BAAT BST2 CACNA2D1 CACNA2D3 CALR CANX CAT CBR1 CD14 CD177 CD1D CD248 CD33 CD44 CD55 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS6 CHGA CHI3L1 CHPT1 CLEC1B CNTN1 COG2 COG8 COMT CPT1A CYP19A1 CYP1A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 CYP3A4 CYP4F3 DCN DHDDS DHRS11 DLD DPAGT1 EBP ECHS1 EFNA1 EFNA2 ENO1 ENOSF1 FADS1 FADS2 FASN FBP1 FBP2 FBXO2 FH FKTN FOLR1 FOLR2 FUT1 FUT2 FUT3 FUT4 FUT5 FUT6 GAL3ST1 GALE GALNS GALNT1 GALNT2 GALNT5 GALNT6 GAPDH GAS1 GBA3 GFPT1 GGT1 GLB1 GLDC GLO1 GLUL GOLPH3 GPAA1 GPC3 GPI GPNMB GPX1 GPX2 GPX3 GUSB HACD1 HAS1 HK1 HK2 HMMR HPGDS HPSE HS6ST2 HSD11B2 HSD17B1 HSD17B2 HSD17B7 HSD3B1 ICAM1 ICAM2 IDH1 IDH2 IDH3B IDUA IGF2R IL18R1 IL1RL1 INPP5K INPPL1 ISYNA1 ITLN1 KLRK1 L1CAM LDHA LGALS1 LGALS2 LGALS3 LGALS9 LIPF LMAN2 LYPD5 LYZ MBD4 MBL2 MBOAT7 MCAT MDGA2 MELTF MGAT5 MICA MMP25 MMUT MRC1 MSLN MTAP MTMR2 MTMR3 MUTYH NAGLU NAMPT NANS NCAM1 NEIL1 NEIL2 NEU1 NEU2 NGLY1 NT5E NTHL1 OARD1 OGG1 OGT OPCML PARP1 PCCA PDHA1 PDIA3 PFKFB3 PFKFB4 PGAM1 PGAP3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PIP5KL1 PKD1 PKM PLA2G2A PLCD1 PLCE1 PLD1 PLPP1 PNPLA2 PPAT PRKAA2 PRNP PSAP PSMD10 PTEN PTGDS PTGS1 PTGS2 RECK RPN2 SARM1 SDC1 SDHB SDHC SDHD SELE SGPP1 SGPP2 SHMT2 SIRT2 SIRT4 SIRT6 SLC26A2 SLC2A4 SLC35B4 SLC3A2 SMUG1 SOAT1 SPHK1 ST3GAL3 ST6GAL1 ST6GALNAC1 STS SUCLG1 SULF1 SULF2 SULT1E1 TDG TIGAR TKT TKTL1 TM7SF2 TMED6 TNKS TPI1 TYMP UGCG UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT2B15 ULBP1 UMPS UPP1 VCAM1 VCAN VTCN1	100507436 1012 10135 10232 10327 10457 1048 10682 10855 1087 10960 1113 1116 11226 11227 124 125 126 127 1272 128 130 130367 131 1312 1374 138429 142 1462 146456 1543 1544 1555 1557 1571 1576 1588 1604 161357 1634 1636 1738 175 1798 1836 1890 1892 1942 1943 2023 217 2182 2194 220 2203 221443 2218 2271 22796 229 22914 22933 23098 231 23213 23409 2348 2350 23583 239 240 246 250 2523 2524 2525 2526 2527 2528 252969 253782 2582 2588 2589 2590 2597 2619 26232 2673 2678 2719 2720 27306 2731 27349 2739 2752 279 28 2821 284348 2876 2877 2878 2923 2990 3036 307 308 3098 3099 31 310 3161 3283 3291 3292 3294 3383 3384 340075 3417 3418 3420 3425 3482 353 3636 3897 3939 3956 3957 3958 3965 3992 4051 4069 412 4153 416 4241 4249 43 4360 4507 4594 4595 4669 4680 4684 47 4758 4759 4907 4913 4968 4978 50 501 5095 51146 51196 51266 51477 51478 51548 5160 51763 5209 5210 5223 523 5230 5290 5291 5293 5294 5310 5315 5320 5333 5337 54187 54575 54576 54577 54578 54657 54658 5471 55556 55600 5563 55768 55799 55808 55902 55959 5621 5660 56994 570 57016 57103 57104 57124 57126 5716 57214 5728 5730 5742 5743 57733 6185 6382 6390 6391 6392 6401 64083 64386 6472 6480 6487 6517 6520 6646 6783 684 6996 7086 7108 7167 7357 7366 7372 7378 7412 781 79143 79154 79611 79661 79679 79947 80329 811 81537 821 8277 8434 84342 847 8473 84912 8513 8611 8644 8658 873 8733 8789 8802 8809 8877 8897 8898 8930 90161 912 9173 9200 929 93210 9415 945 9514 960 972 98	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4465	papillary renal cell carcinoma Aliases: Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma	ACACA ACADM ACAT1 ACAT2 ACE ACHE ACLY ACOT7 ACSL1 ACSS1 ACSS2 ACYP2 ADH7 AGK AGRN AKR1A1 AKR1C2 AKR1C3 ALDH1A3 ALDH3B1 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 B4GALNT3 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CERS1 CERS2 CHI3L1 CHI3L2 CHPT1 CHSY1 CLEC1B CMAS COMT CPT1C CRPPA CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN DHCR24 DHDDS DLD DLST EBP ECHS1 EFNA1 ELOVL2 ENO1 ENO2 ENPP2 ENPP3 FASN FBP1 FCER2 FCGR3B FH FPGT FUCA1 FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GALNT2 GALNT3 GAPDH GAS1 GGT1 GLA GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 GUSB HAO2 HAS1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B2 HSD17B6 ICAM1 IDH1 IDUA IL18R1 IL1R1 IMPA2 INPP4B INPPL1 KDSR KHK KL KLB KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MDH2 MGAT3 MGAT5 MGAT5B MICA MINPP1 MMUT MPPE1 MRC1 MTAP NAMPT NCAM1 NDST1 NEU1 NEU3 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARG PARP1 PC PCYT1A PDHB PDIA3 PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2G1B PLA2G2A PLA2G6 PLA2R1 PLAUR PLD1 PLD2 POGLUT3 PPAT PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGDS PTGES3 PTGES PTGIS PTGS1 PTGS2 RECK RGN RPIA SCD SDC1 SDC3 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SHMT1 SIRT2 SIRT6 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC35G2 SMUG1 SOAT1 SORD SPHK1 SPHK2 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TKTL1 TM7SF2 TMED3 TMED9 TPI1 TUSC3 TYMP UGCG UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10715 10728 10825 10855 1087 1116 11164 1117 11332 120227 126129 126792 131 1312 142 143888 1462 146664 152831 1543 1545 1577 1588 1591 1594 1605 1634 1636 1646 170384 1718 1738 1743 1890 1892 1942 197257 2023 2026 2180 2194 220 2203 2208 221 2215 223 226 2271 22856 229 22925 22933 22934 23423 23583 23600 23659 23761 239 240 242 248 250 2517 2525 2526 2531 2538 2539 2571 2583 2590 2591 2597 26033 2619 2678 27087 2717 2719 27306 27349 2821 283358 284348 2876 2878 2923 2990 29956 3036 307 308 30835 3099 31 3161 3251 3291 3340 3383 34 3417 3425 353 3554 3613 3636 375790 3795 38 3821 3897 39 3939 3945 3948 3956 3958 3964 3965 3988 412 4191 4248 4249 43 4329 4360 4507 4594 4680 4684 47 4758 4907 4968 5048 5091 51179 51266 5130 51548 5162 5168 5169 5230 5236 5290 5291 5293 5294 5315 5319 5320 5329 5337 5338 54658 5471 54732 54898 5563 55750 55902 55907 55959 5621 5652 56848 56994 57103 57134 5716 57214 5728 5730 5740 5742 5743 58530 6319 6382 6385 6389 6390 6391 6392 6401 6402 6403 64083 6470 6483 6484 6514 6515 6517 6518 65258 6646 6652 684 7108 7167 729920 7357 7412 7512 762 7903 79158 79679 79888 7991 79944 79947 80723 811 81562 8277 8398 8434 84532 847 8473 8505 8630 8644 8790 8809 8821 8877 9104 912 929 9365 9514 952 9536 9562 960 9672 972 98	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050568	spondylocostal dysostosis Aliases: Jarcho-Levin syndrome costovertebral dysplasia spondylothoracic dysostosis spondylothoracic dysplasia	LFNG SLC35A3	23443 3955	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:607	paraplegia Aliases: Paraplegia, lower	AKT1 ALDH3A2 B3GALT6 B4GALNT1 CEACAM5 CNTN3 CPT1C CYP27A1 CYP2U1 CYP7B1 GALC GBA2 GBE1 HS6ST1 HSD17B6 L1CAM MAG PDHX PNPLA6 PRPS1 PSAP SLC33A1	1048 10908 113612 126129 126792 1593 207 224 2581 2583 2632 3897 4099 5067 5631 5660 57704 8050 8630 9197 9394 9420	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:13316	exocrine pancreatic insufficiency Aliases: EPI	ATP6AP1 CEL CTNS HPGDS HSD17B6 OGG1	1056 1497 27306 4968 537 8630	Homo sapiens (human)	DisGeNET
DOID:1795	malignant exocrine pancreas neoplasm Aliases: malignant neoplasm of the Exocrine pancreas malignant tumor of exocrine pancreas malignant tumour of exocrine pancreas	ABO PC	28 5091	Homo sapiens (human)	DisGeNET
DOID:9602	necrotizing fasciitis	GALNS RECK	2588 8434	Homo sapiens (human)	DisGeNET

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