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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 **1851 - 1875** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:4015	sarcomatoid carcinoma Aliases: spindle cell carcinoma	ABO ACACA ACACB ACE ACSL1 ACSL5 ACSM1 AGXT AKR1B10 AKR1B1 AKR1C3 ALDH2 ALDH3A1 ALDH7A1 ALDOA ALOX15 ALOX15B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ARSA ASAH1 B3GAT1 B4GALNT2 BAAT C1GALT1 CACNA2D3 CALR CAT CBR1 CD109 CD14 CD1D CD248 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEACAM6 CEACAM7 CERS2 CHGA CHPT1 CPT1A CPT2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27B1 CYP2E1 CYP3A5 CYP3A7 CYP4F3 DAG1 DCN DCXR DHCR24 DHDH EFNA1 ENO1 ENO2 ENPP1 FASN FBP1 FCGR3B FH FOLR1 FUT1 FUT3 FUT4 FUT6 G6PC1 GALNT3 GALNT6 GAPDH GCNT1 GGT1 GLB1 GLO1 GLUL GOLPH3 GPC3 GPLD1 GPX2 GPX3 GUSB HAGH HAS1 HAS2 HAS3 HK2 HMGCS2 HMMR HPGDS HPSE HSD17B12 HSD3B1 HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 INPP4B ITLN1 L1CAM LDHA LDHB LGALS1 LGALS3 LGALS4 LGALS8 LGALS9 LMAN1 LPIN1 LPL LY6K LYPD5 LYPLA1 MAN2C1 MBD4 MCAT MDH2 MELTF MGAT5 MICA MINPP1 MMP25 MPG MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEIL1 NEU1 NEU3 NT5E NTHL1 OGG1 OPCML PARP1 PDHA1 PDIA3 PFKM PGAM1 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G2A PLA2G6 PLAUR PLCD1 PLCE1 PLCG1 PLD1 PLD2 PLPP2 PNP PPP1R3A PRKAA2 PRNP PRPS1 PTEN PTGDS PTGES3 PTGES PTGS1 PTGS2 PYGM QTRT1 RECK SCD SDC1 SELE SFTPC SHMT1 SIGLEC12 SIGLEC9 SIRT2 SIRT6 SLC2A2 SLC35A2 SMC3 SMUG1 SPHK1 SPHK2 SRGN ST3GAL4 ST3GAL6 ST6GAL1 ST8SIA4 STS TKT TKTL1 TM7SF2 TNKS TYMP UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT2B7 UMPS VCAN VTCN1	100507436 1012 10135 10232 1040 10402 10434 1048 10728 10825 10855 1087 1113 11226 116285 124872 128869 135228 1374 1376 142 1462 1543 1544 1545 1551 1571 1577 1586 1588 1591 1594 1604 1605 1634 1636 1718 189 1890 1942 2023 2026 217 218 2180 2194 2203 2215 226 2271 22933 231 23175 2348 23583 23600 240 246 247 248 250 2523 2525 2526 2528 2538 2591 2597 2650 2678 27087 27180 2719 2720 27294 27306 27349 2739 2752 28 2822 284348 2877 2878 2923 2990 29956 3029 3036 3037 3038 307 308 3099 31 3158 3161 32 3283 3339 3373 3383 3417 3418 353 3897 3939 3945 3956 3958 3960 3964 3965 3998 4023 4051 410 412 4123 4191 4241 4249 427 4350 4360 4507 4595 4680 4684 4758 4860 4907 4913 4968 4978 501 51144 51181 51196 51548 5160 5167 51703 5213 5223 5230 5289 5290 5291 5293 5294 5315 5319 5320 5329 5333 5335 5337 5338 54575 54576 54577 54578 54579 54600 54657 54658 54659 54742 5506 5552 55600 5563 55799 5621 5631 56848 56886 56913 56994 570 57016 57124 5728 5730 5742 5743 5837 6319 6382 6401 64083 64386 6440 6470 6480 6484 6514 7086 7108 7355 7364 7372 7903 79661 79679 811 81890 8277 8372 8398 8434 847 8612 8644 8658 8692 873 8821 8877 8930 89858 912 9126 929 952 9536 9562 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y Aliases: LGMD2Y autosomal recessive muscular dystrophy due to LAP1B deficiency autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2Y	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:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3113	papillary carcinoma	ASAH1 B3GAT1 CD44 CYP1A1 ENO2 FUT4 FUT8 GPC3 GPLD1 HPSE HSPG2 IDH2 LGALS1 LGALS3 NCAM1 NEU1 PIGU PIK3CA PTEN PTGS1 PTGS2 SDC2 SLC2A3 SMUG1 VTCN1	10855 128869 1543 2026 23583 2526 2530 27087 2719 2822 3339 3418 3956 3958 427 4684 4758 5290 5728 5742 5743 6383 6515 79679 960	Homo sapiens (human)	DisGeNET
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	ALG12 DPM1 PMM2	5373 79087 8813	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0080844	omodysplasia 1	GPC6	10082	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060221	Maffucci syndrome	EXT1 EXT2 IDH1 IDH2	2131 2132 3417 3418	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5076	mixed glioma Aliases: mixed Neuroglial tumor mixed gliomas	ACAT1 ACE ACOD1 ACOT7 ACSBG1 ACSL1 ACSL3 ACSL4 ACSL5 ACSS2 ACYP2 AGK AGPS AKR1B1 ALDH1A3 AMACR ANXA5 ANXA7 APRT ART1 ATP6AP2 ATP6V0A2 ATRN B4GALT5 BCAN BDH1 CACNA2D3 CALR CAT CD109 CD44 CD48 CD74 CD93 CDH13 CEACAM5 CERS1 CHI3L1 CHKA CHPF CHPT1 CHSY3 CLC CLEC5A CNTFR CNTN1 CNTN2 COL9A2 CSPG4 CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 CYP2J2 DAG1 DBT DCN DCTD DHCR24 DHDDS DPEP1 EBP EFNA1 ELOVL2 ENO1 ENOSF1 EXT1 FASN FBP1 FBXO17 FIG4 FMOD FUT4 G6PD GAD1 GAL3ST1 GALNT2 GALNT7 GAPDH GAS1 GLB1 GLDC GLO1 GLUL GOLPH3 GPC1 GPC5 GPD1 GPD2 GPI GPIHBP1 GPNMB GPX1 HAS2 HEXA HEXB HK1 HK2 HMMR HPGDS HPSE HSPG2 HYAL1 HYAL2 HYAL3 ICAM1 IDH1 IDH2 IL18R1 IMPA1 ISYNA1 ITPKA KHK KLRK1 L1CAM LAYN LDHA LGALS1 LGALS3 LGALS9 LPL LSS LYZ MAG MBD4 MBL2 ME1 MELTF MGAT1 MGAT5 MICA MMUT MPG MPI MRC1 MSLN MTAP MTMR3 MUTYH NAMPT NANS NT5E OPCML OXCT1 PARP1 PDIA3 PFKFB4 PGAM1 PGK1 PIK3C2B PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G4C PLA2G5 PLAUR PLCB1 PLCG1 PLD1 PLD2 PLEKHA8 PLOD3 PNLIP PNPLA2 PRKAA2 PRNP PRSS8 PSAP PSMD10 PTEN PTGES PTGS1 PTGS2 QPRT RECK RTN4R SCD SDC1 SDC2 SDHC SDHD SEMA7A SGMS1 SGMS2 SHMT2 SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A5 SLC35A1 SLC35A3 SLC37A4 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC1 SRD5A1 SRGN ST6GAL1 ST6GALNAC5 ST8SIA1 STS SUCLG1 SULF2 THEM4 TIGAR TKT TKTL1 TM7SF2 TMED5 TNFRSF10C TPI1 TREH TUSC3 TYMP UGP2 UGT8 VCAM1 VCAN	100507436 1012 10135 10159 10232 10457 1048 10558 10559 10682 10715 10855 1116 11181 1119 11332 115290 117145 1178 1271 1272 1298 135228 142 143903 1462 1464 1543 1545 1555 1559 1571 1573 1586 1588 1594 1605 1629 1634 1635 1636 166929 1718 1800 1890 1942 2023 2131 2180 2181 2182 2194 220 2203 2262 22914 22918 22933 231 23205 23236 2331 23443 23475 23545 23583 23600 23601 2526 2539 2542 2571 2590 259230 2597 2619 27036 2720 27306 2731 2739 2752 2817 2819 2820 2821 2876 2923 3037 3073 3074 308 3098 3099 310 3161 3339 3373 337876 3383 338328 3417 3418 353 3612 3706 3795 38 3897 3939 3956 3958 3965 4023 4047 4069 4099 412 4153 417 4199 4241 4245 4249 4350 4351 4360 4507 4594 4595 4907 4978 5019 50999 51477 51548 51703 51809 5210 5223 5230 5287 5290 5291 5293 5294 5310 5311 5315 5322 5329 5335 5337 5338 5406 54187 54898 5552 55556 5563 55750 55799 55902 55959 5621 5652 5660 56848 56994 57103 57104 5716 5728 5742 5743 622 6319 6382 63827 6383 6391 6392 64083 6472 6480 6489 65078 6515 6518 6609 6646 6715 6900 7086 7108 7167 730249 7360 7368 7412 79586 7991 79947 811 81849 8277 8372 8434 8455 847 84725 8482 8540 8605 8692 8794 8802 8809 8877 8897 8930 8985 9334 9514 9536 960 962 972 98 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110453	dilated cardiomyopathy 1EE Aliases: CMD1EE	ACADVL ACE BDH1 CHKB CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:11198	DiGeorge syndrome Aliases: 22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome	ARSA COMT CPO DGCR2 GBA1 NAAA NDST1 PLA2G6 SLC25A1 SULT1E1	130749 1312 2629 27163 3340 410 6576 6783 8398 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0090053	episodic kinesigenic dyskinesia 1 Aliases: Paroxysmal kinesigenic choreoathetosis	ACE APRT COMT GAL3ST1 INPP5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1A PKD1 PKD1L3 PKD2 PKLR PTEN SELE SLC35A1	10559 1312 1636 342372 353 5130 5290 5291 5293 5294 5310 5311 5313 56623 5728 6401 8394 9514	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110778	hereditary spastic paraplegia 27 Aliases: SPG27 autosomal recessive spastic paraplegia 27 autosomal recessive spastic paraplegia type 27	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET
DOID:0110151	Charcot-Marie-Tooth disease type 1C Aliases: CMT slow nerve conduction type C CMT1C Charcot-Marie-Tooth neuropathy type 1C HMSN IC HMSN1C neuropathy hereditary motor and sensory type 1C	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
DOID:2301	atrophy of prostate	AMACR	23600	Homo sapiens (human)	DisGeNET
DOID:0060746	basal laminar drusen Aliases: cuticular drusen drusen of bruch membrane early adult-onset grouped drusen	RPE	6120	Homo sapiens (human)	DisGeNET
DOID:0110811	hereditary spastic paraplegia 6 Aliases: FSP3 SPG6 autosomal dominant familial spastic paraplegia type 3 autosomal dominant spastic paraplegia 6 autosomal dominant spastic paraplegia type 6	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)	DisGeNET
DOID:0110523	autosomal recessive nonsyndromic deafness 74 Aliases: DFNB74 autosomal recessive deafness 74	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)	DisGeNET
DOID:6245	renal oncocytoma Aliases: Oncocytoma of kidney renal epithelial Oncocytic tumor	AMACR CD44 HMMR HYAL4 LDHA PIK3CA PRSS8 PTGS2 SDC1 SLC2A2 SLC2A4	23553 23600 3161 3939 5290 5652 5743 6382 6514 6517 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080047	pseudoachondroplasia Aliases: SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC pseudoachondroplastic dysplasia	ACAN CANX COL9A2 DCN	1298 1634 176 821	Homo sapiens (human)	DisGeNET
DOID:3227	tracheal stenosis Aliases: Stenosis of trachea	EBP IDUA	10682 3425	Homo sapiens (human)	DisGeNET
DOID:0111217	autosomal dominant centronuclear myopathy Aliases: AD-CNM	MTM1 MTMR14	4534 64419	Homo sapiens (human)	DisGeNET
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	DAG1 MTMR4 PNPLA6	10908 1605 9110	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:6404	metanephric adenoma	B3GAT1	27087	Homo sapiens (human)	DisGeNET
DOID:11156	anhidrosis Aliases: Adiaphoresis absence of sweating	ALOX12B CEACAM5 CERS3 COG6 CTNS ELOVL4 FUCA1 GAL3ST1 GLA HEXB NGLY1 SLC35A1 SPTLC2 STS	1048 10559 1497 204219 242 2517 2717 3074 412 55768 57511 6785 9514 9517	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070263	congenital disorder of glycosylation type IIk Aliases: CDG IIk CDG syndrome type IIk CDG2K CDGIIdk Carbohydrate deficient glycoprotein syndrome type IIk Congenital disorder of glycosylation type 2k TMEM165-CDG	TMEM165	55858	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources

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