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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 **6451 - 6475** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:1085	Edwards syndrome Aliases: Complete trisomy 18 syndrome E3 Trisomy trisomy 18	CD38 FUT1	2523 952	Homo sapiens (human)
DOID:0110949	Waardenburg syndrome type 3 Aliases: Klein-Waardenburg syndrome WS3 Waardenburg syndrome type III Waardenburg syndrome with upper limb anomalies	IDS	3423	Homo sapiens (human)
DOID:0110043	Alzheimer's disease 10 Aliases: AD10 Alzheimer disease 10 Alzheimer disease familial 10 Alzheimer's disease 10, early onset	ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:3121	gallbladder cancer Aliases: gallbladder Ca gallbladder neoplasm localized malignant gallbladder neoplasm malignant neoplasm of gallbladder malignant tumor of the gallbladder malignant tumour of gallbladder tumor of the gallbladder	ACE ALDH1A3 ANXA5 APRT ARSA CALR CAT CD44 CDH13 CEACAM5 CEACAM6 CEACAM7 CNTN4 CYP17A1 CYP1A1 CYP1B1 CYP27A1 CYP2B6 CYP39A1 CYP7A1 CYP7B1 FKTN GALNT3 GCNT2 GGT1 GPC1 GPC3 GPX3 HK2 HPGDS HPSE HSD17B7 HSPG2 IDH1 ISYNA1 LDHA MPG NT5E OGG1 PC PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKLR PKM PLCE1 PSAP PTEN PTGS2 RBP4 SDC1 SDC2 SMUG1 SPHK1 ST8SIA4 SULT2B1 TYMP	1012 1048 10855 1087 152330 1543 1545 1555 1581 1586 1593 1636 1890 220 2218 23583 2591 2651 2678 2719 27306 2817 2878 308 3099 3339 3417 353 3939 410 4350 4680 4907 4968 5091 51196 51302 51477 51478 5230 5290 5291 5293 5294 5313 5315 5660 5728 5743 5950 6382 6383 6820 7903 811 847 8877 9420 960	Homo sapiens (human)
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	ACE AKR1B1 CAT ENO2 GGT1 PGD TP53	1636 2026 231 2678 5226 7157 847	Homo sapiens (human)
DOID:0050741	alcohol dependence Aliases: alcoholism	ABAT ABO ACE ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AKR1A1 AKR1C3 AKR1C4 ALDH1B1 ALDH2 ALDH3B2 APRT ARSA CAT CDH13 CNTN4 CNTN6 COMT CYP19A1 CYP1A1 CYP2B6 CYP2E1 CYP3A5 ECHS1 FOLR1 GAD1 GAD2 GAPDH GGT1 GLUL GM2A GUSB HPGDS HSD11B2 HSPG2 HTR2A IL18R1 IL1R1 IMPA1 KL LEP LYZ MGLL NCAM1 NPL PARP9 PC PIK3CA PIK3CB PIK3CD PIK3CG PLCD3 PNPLA3 PPAT PRSS21 SLC17A5 SLC39A8 SMPD1 SRD5A1 SRD5A2 ST8SIA4 TIPARP TKT TMEM260 UMOD	1012 10327 10942 1109 113026 11343 124 125 126 127 128 130 131 1312 152330 1543 1555 1571 1577 1588 1636 18 1892 217 219 222 2348 2571 2572 2597 25976 26503 2678 27255 27306 2752 2760 28 2990 3291 3339 3356 353 3554 3612 3952 4069 410 4684 5091 5290 5291 5293 5294 5471 54916 55902 64116 6609 6715 6716 7086 7369 7903 80339 80896 83666 847 8644 8809 9365	Homo sapiens (human)
DOID:0110350	osteogenesis imperfecta type 6 Aliases: OI6 osteogenesis imperfecta type VI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110542	autosomal dominant nonsyndromic deafness 10 Aliases: DFNA10 autosomal dominant deafness 10	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:0060602	alpha-methylacyl-CoA racemase deficiency Aliases: AMACR deficiency	AMACR HSD17B4	23600 3295	Homo sapiens (human)
DOID:1752	ocular melanoma Aliases: eye melanoma intraocular melanoma melanoma of eye	ASAH1 CD177 CYP24A1 CYP27B1 PNPLA2 SDHD	1591 1594 427 57104 57126 6392	Homo sapiens (human)
DOID:539	ophthalmoplegia Aliases: Total ophthalmoplegia extraocular muscle paralysis eye movement paralysis oculomotor paralysis	ACO2 ACOX1 ACSL4 ADPRS AGK AGRN ALDH5A1 ALDH7A1 ALG11 ALG3 ALG6 ATP6V0A2 ATP6V1A B3GALNT2 CA4 CACNA2D2 CACNA2D4 CHAT CHST14 COG5 COLEC11 COMT CYB5R3 CYP1B1 DDOST DHCR24 DHDDS ECHS1 ELOVL4 EOGT EXT2 FCSK FKRP FKTN GALC GAS1 GBA1 GFPT1 GK GMPPB GPC1 HACD1 HGSNAT HIBCH HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MDH2 MPDU1 MTM1 MTMR14 NAGA NGLY1 NSDHL NYX OCRL PDHA1 PIGL PIGP PIGQ PIGT PIGY PLA2G6 PMM2 PNPLA6 POMGNT1 POMK POMT1 POMT2 PTEN RFT1 SDHA SDHB SDHD SGPL1 SLC2A10 SLC35A2 SLC39A8 SMC3 SUCLA2 TYMP	10195 10466 10585 10908 1103 113189 1312 138050 148789 1545 1650 1718 1727 1890 1892 197258 2132 2182 2218 23545 2581 2619 26275 2629 2673 2710 2817 285203 29925 29929 29954 3295 3419 3420 375790 3897 4191 440138 4534 4668 4952 50 501 50814 51 51227 5160 51604 51763 523 5373 54936 55624 55750 55768 56623 5728 60506 6389 6390 6392 64116 64419 6785 7355 762 78989 79147 7915 79944 79947 81031 8398 84197 84992 8803 8879 9091 9126 91869 9200 9215 9254 93589 9487 9526	Homo sapiens (human)
DOID:0110062	amelogenesis imperfecta hypomaturation type 2A4 Aliases: AI2A4 amelogenesis imperfecta hypomaturation type IIA4 amelogenesis imperfecta type IIA4	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:0111131	focal segmental glomerulosclerosis 6 Aliases: FSGS6	ACE	1636	Homo sapiens (human)
DOID:5845	anterolateral myocardial infarction	ACE CAT LGALS3 SLC2A4	1636 3958 6517 847	Homo sapiens (human)
DOID:0080169	tricuspid atresia	COMT PLD1	1312 5337	Homo sapiens (human)
DOID:3614	Kallmann syndrome Aliases: Hypogonadism with anosmia Kallman syndrome Kallman's syndrome familial hypogonadism with anosmia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 ICAM1 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3383 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:13800	inclusion conjunctivitis Aliases: Chlamydial conjunctivitis Inclusion blennorrhoea adult inclusion conjunctivitis inclusion blenorrhea	CALR PTGS2 SMUG1	23583 5743 811	Homo sapiens (human)
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)
DOID:0110518	autosomal recessive nonsyndromic deafness 67 Aliases: DFNB67 autosomal recessive deafness 67	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:10488	imperforate anus Aliases: Congenital atresia of anus Congenital or infantile occlusion of anus anal atresia	B3GLCT COMT FKRP FKTN LARGE1 PIGN PIGO POMT1 POMT2	10585 1312 145173 2218 23556 29954 79147 84720 9215	Homo sapiens (human)
DOID:0060695	hyperekplexia Aliases: Kok disease congenital stiff man syndrome familial startle disease hereditary hyperekplexia startle disease	PRNP	5621	Homo sapiens (human)
DOID:987	alopecia	ABO ACAT1 ACE ACER1 AGA AGXT AKR1C4 ALOX12B ATP6V0A2 CERS3 CYP17A1 CYP19A1 CYP27B1 DCN DGAT1 EBP EOGT FADS2 FAR2 FUT3 HPGDS HSD11B1 HSD3B1 ICAM1 KDSR KLRK1 LSS PARP1 PCYT1A PLCD1 PNPLA6 PRNP PRSS8 PTGDS PTGS2 SHMT1 SOAT1 SRD5A1 SRD5A2 ST3GAL4 STS VCAN	10682 10908 1109 125981 142 1462 1586 1588 1594 1634 1636 175 189 204219 22914 23545 242 2525 2531 27306 28 285203 3283 3290 3383 38 4047 412 5130 5333 55711 5621 5652 5730 5743 6470 6484 6646 6715 6716 8694 9415	Homo sapiens (human)
DOID:0050463	campomelic dysplasia Aliases: Acampomelic Campomelic Dysplasia	ACE ALPL B4GALNT2 CD177 CHKB DAG1 FKRP FKTN IGF2R LGALS4 MPI POMT1 POMT2 ST3GAL4	10585 1120 124872 1605 1636 2218 249 29954 3482 3960 4351 57126 6484 79147	Homo sapiens (human)
DOID:0070215	familial hyperinsulinemic hypoglycemia 4 Aliases: HHF4 hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency hyperinsulinism due to SCHAD deficiency hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HADH	3033	Homo sapiens (human)
DOID:1252	trichuriasis Aliases: Infection by Trichuris trichura Trichuriasis infection Whipworm disease trichuris trichiura infection	ACACA	31	Homo sapiens (human)

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