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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 **26 - 50** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110808	hereditary spastic paraplegia 56 Aliases: SPG56 autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56	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)
DOID:2768	transient tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)
DOID:0060380	orofaciodigital syndrome X Aliases: OFD10 orofaciodigital syndrome with fibular aplasia	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	PRNP	5621	Homo sapiens (human)
DOID:574	peripheral nervous system disease	ACACA ACE ACER3 ACOT7 AGPAT2 AGXT AKR1A1 AKR1B1 ALOX12 ALOX15 AMACR APRT ARSA B3GAT1 CANX CAT CD14 CD1D CD55 CHIT1 CHSY1 CNTN1 COMT CPT1C CYP17A1 CYP19A1 CYP27A1 CYP2C8 CYP2U1 CYP3A4 CYP3A5 CYP7B1 DAG1 DEGS1 DGAT2 ECHS1 ENO2 FIG4 FOLR1 FUCA1 GAD1 GAS1 GCK GFRA1 GFRA2 GLA GPX1 HADH HADHA HADHB HK1 HPGDS HPSE HSD3B7 ICAM1 IDH1 IDH2 INPP5K LPIN1 LTC4S LYZ MAG MBL2 MGLL MTM1 MTMR2 NAGA NAMPT NCAM1 NCAN NGLY1 NT5E NTNG1 PDHA1 PGM3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PNPLA2 PNPLA6 PRNP PRPS1 PSAP PTEN PTGIS RGN RPIA SARM1 SCP2 SDHA SGPL1 SLC2A4 SMC3 SMPD1 SPTLC1 SPTLC2 SPTLC3 ST3GAL4 SUCLA2 TKT TPI1 TYMP	10135 10327 10555 10558 10855 10908 1118 11332 11343 113612 126129 1272 1312 1463 1558 1576 1577 1586 1588 1593 1604 1605 1636 189 1890 1892 2026 22854 22856 22934 23098 231 23175 2348 23600 239 246 2517 2571 2619 2645 2674 2675 27087 2717 27306 283871 2876 3030 3032 3033 3098 31 3383 3417 3418 353 4056 4069 4099 410 4153 4534 4668 4684 4860 4907 5160 51763 5238 5290 5291 5293 5294 5373 55304 55331 55768 5621 5631 5660 57104 5728 5740 6342 6389 6484 6517 6609 7086 7167 80270 821 84649 847 8560 8803 8879 8898 9104 912 9126 929 9420 9517 9896	Homo sapiens (human)
DOID:4830	adenosquamous carcinoma Aliases: Adenosquamous cell carcinoma mixed adenocarcinoma and squamous carcinoma	CALR CLEC10A MGLL PGK1 PIK3CA PTEN SIGLEC7	10462 11343 27036 5230 5290 5728 811	Homo sapiens (human)
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	ATP6AP2 CEL CHI3L1 LGALS9 PARP9 SLC27A5 TNF	10159 1056 10998 1116 3965 7124 83666	Homo sapiens (human)
DOID:0070161	hereditary sensory and autonomic neuropathy type 2 Aliases: HSAN2 hereditary sensory and autonomic neuropathy type II	ACE ARSA CANX CD44 DGAT2 FIG4 GBA1 HADHB HK1 LCAT MAG MTM1 MTMR2 PGK1 PGM1 PRPS1 SIGLEC7 SPTLC1 SPTLC2	10558 1636 2629 27036 3032 3098 3931 4099 410 4534 5230 5236 5631 821 84649 8898 9517 960 9896	Homo sapiens (human)
DOID:4647	trilateral retinoblastoma	APRT CBR3 CD44 CDH13 CEACAM5 CEACAM7 CEMIP EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RPE SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 5716 57214 5728 5743 6120 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	CD74 FDPS IDH1 IDH2 IL1R1 LYZ MACROD2 NANS PIK3CA PIK3CB PIK3CD PIK3CG PPARGC1A PTEN PTGS2	10891 140733 2224 3417 3418 3554 4069 5290 5291 5293 5294 54187 5728 5743 972	Homo sapiens (human)
DOID:8893	psoriasis	ACACA ACE ACO1 ACOT8 ADH1B AKR1B10 AKR1C1 AKR1C3 ALDH2 ALOX12 ALOX15 ALOX15B APRT B3GNT2 B3GNTL1 BST2 CAT CD14 CD1D CD38 CD93 CDH13 CHI3L1 CHST8 CLC CLEC16A CLEC7A CNTN3 COG6 COMT CS CYP1A1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP3A4 DAG1 DLAT ELOVL6 FABP5 FAM20B FCGR3B FCN2 FUT2 GAL3ST2 GAPDH GBA1 GPX1 HPGDS HPSE ICAM1 ICAM5 IL18R1 IL1R1 IL1RAP IL1RL2 IPMK ISYNA1 ITLN1 KLRC1 LGALS1 LGALS3 LYNX1 LYZ MASP2 MBL2 MGAT5 MICA MRC1 MSMO1 NAGLU NAMPT NANS NCAM1 NT5E OLR1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G7 PLB1 PLCD1 PSAP PTEN PTGS1 QTRT1 RBP4 RENBP SDC1 SELE SELP SFTPD SLC17A5 SMUG1 SOAT1 SPHK1 SPHK2 SPTLC2 ST6GAL1 STS SULF2 TLR2 TLR4 TNF UGT8 VCAM1 VNN1 VNN2 YDJC	10005 100507436 1012 10135 10678 10747 10855 1116 1178 125 1312 142 1431 146712 150223 151056 1543 1555 1557 1571 1576 1591 1593 1594 1605 1636 1645 1737 217 2171 2215 2220 22918 23274 23583 239 246 247 2524 253430 2597 2629 26503 27306 2876 31 3383 353 3554 3556 3821 3956 3958 4069 412 4153 4249 4360 4669 4684 48 4907 4973 5067 51477 5290 5291 5293 5294 5310 5319 5320 5333 54187 55600 55959 5660 56848 57016 5728 5742 57511 5950 5973 6307 6382 6401 6403 64090 64377 6441 64581 6480 66004 6646 684 7087 7097 7099 7124 7368 7412 79071 7941 81890 8399 847 8644 8808 8809 8875 8876 8877 912 929 9517 952 9917	Homo sapiens (human)
DOID:0111218	Friedreich ataxia 1 Aliases: FA1 FRDA1	ACO2 CAT GAA GPAA1 GPX1 HPGDS ICAM1 LPL PIP5K1B PRKAA2 VCAM1	2548 27306 2876 3383 4023 50 5563 7412 8395 847 8733	Homo sapiens (human)
DOID:289	endometriosis	ACACA ACE AKR1B1 AKR1C1 AKR1C2 AKR1C3 ALOX5 ALPI ALPP ARSD CAT CD44 CD48 CD55 CD74 CHST3 COMT CPM CYP11A1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP2B6 CYP2C19 CYP2R1 CYP3A4 CYP4F3 DCN DHRS11 ENO1 ENPP1 ENPP3 EXTL3 FCGR3B GALNT3 GALNT6 GALT GBA1 GPNMB GPX3 HAS1 HK1 HPGDS HPRT1 HPSE HS3ST3B1 HSD11B2 HSD17B1 HSD17B2 HSD17B3 HSD17B7 HSD3B1 HSD3B2 HYAL2 ICAM1 IL18R1 IL1R1 IL1RAP IMPA2 KLRC1 KLRK1 LGALS1 LGALS3 LGALS4 LGALS9 LIPC LIPG MRC1 NCAM1 NT5E OGG1 PARP1 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLCB1 PLCB4 PPT1 PSMD10 PTEN PTGES PTGS2 SDC4 SELE SELL SIGLEC7 SLC2A3 SLC2A4 SLC33A1 SMPDL3A SRD5A1 SRD5A2 STS SUCLG2 SULF2 SULT1E1 TECR TNF TYMP UST VCAM1 VCAN	10090 10457 10855 10924 11226 120227 1312 1368 142 1462 1543 1544 1545 1555 1557 1576 1583 1586 1588 1589 1604 1634 1636 1645 1646 1890 2023 2137 2215 22914 231 23236 240 248 250 2591 2592 2629 27036 27306 2878 2923 3036 3098 31 3251 3283 3284 3291 3292 3293 3294 3383 3554 3556 3613 3821 3956 3958 3960 3965 3990 4051 412 414 4360 4684 4907 4968 51478 5167 5169 5290 5291 5293 5294 5320 5332 5538 55959 5716 5728 5743 6385 6401 6402 6515 6517 6715 6716 6783 7124 7412 79154 847 8644 8692 8801 8809 9197 9388 9469 9524 9536 960 962 972 9953	Homo sapiens (human)
DOID:11561	hypertensive retinopathy	DLD DLST FH HSD11B2 MDH2 SDHA SDHB SDHC SDHD	1738 1743 2271 3291 4191 6389 6390 6391 6392	Homo sapiens (human)
DOID:0110826	Usher syndrome type 1 Aliases: US1 USH1	ALDH7A1 RPE STS	412 501 6120	Homo sapiens (human)
DOID:5411	lung oat cell carcinoma Aliases: oat cell carcinoma	CBR1 CD44 CEACAM5 CHGA CYP1A1 CYP2E1 ENO2 LGALS3 MRC1 NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1 STS UGT1A1	1048 1113 1543 1571 2026 23583 3958 412 4360 4684 5290 5291 5293 5294 54658 5728 873 960	Homo sapiens (human)
DOID:0110573	autosomal dominant nonsyndromic deafness 4A Aliases: DFNA4A autosomal dominant deafness 4A	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)
DOID:0050759	myotonic dystrophy type 2	ACE ACHE ALPP ATRNL1 CHI3L1 CNTN2 CYP2B6 CYP51A1 DAG1 FASN GAL3ST1 GCK HSPG2 IDS IL18R1 LPL MGAM MRC1 MTM1 MTMR1 PGD PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PRKAA2 PRNP QTRT1 SELE SELP SI SLC2A4 SLC35A1 SLC35G1 ST8SIA4 UGT8	10559 1116 1555 159371 1595 1605 1636 2194 23236 250 26033 2645 283871 3339 3423 4023 43 4360 4534 5226 5286 5290 5291 5293 5294 5563 5621 6401 6403 6476 6517 6900 7368 7903 81890 8776 8809 8972 9514	Homo sapiens (human)
DOID:0080563	congenital disorder of glycosylation Ik Aliases: congenital disorder of glycosylation 1k	ALG1 ALG1L2	56052 644974	Homo sapiens (human)
DOID:0080092	myofibrillar myopathy 1 Aliases: autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM MTM1 PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SDHB SI SORD SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 4534 51763 5286 5373 54344 5553 55624 56983 6383 6390 6476 6652 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:0110042	Alzheimer's disease 3 Aliases: AD3 Alzheimer disease 3 Alzheimer disease 3, early onset Alzheimer disease familial 3	ACHE AKR1C4 CD14 CD38 CEACAM5 CHAT CHI3L1 GGT1 LIPA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1 SUCLA2 VCAM1	1048 1103 1109 1116 142 23583 2678 3988 43 5290 5291 5293 5294 5743 7412 8803 929 952	Homo sapiens (human)
DOID:0060604	ankyloglossia Aliases: tongue-tie	EBP	10682	Homo sapiens (human)
DOID:0050591	tooth agenesis Aliases: familial tooth agenesis hypodontia oligodontia selective tooth agenesis	ACOX1 ATP6V1A CHSY1 DHDDS MBL2 PIGL PIK3C2A PLD2 SYNJ1 XYLT1	22856 4153 51 523 5286 5338 64131 79947 8867 9487	Homo sapiens (human)
DOID:8029	sporadic breast cancer	ABO ACHE COMT CYP1A1 DHRS11 HMMR HPGDS HSD17B1 HSD17B2 HSD17B7 MRC1 OGG1 PARP1 PIK3CA PTEN SIRT6 VTCN1	1312 142 1543 27306 28 3161 3292 3294 43 4360 4968 51478 51548 5290 5728 79154 79679	Homo sapiens (human)
DOID:3098	small cell sarcoma	CD38	952	Homo sapiens (human)

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