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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 **5051 - 5075** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:13404	uveoparotid fever Aliases: Heerfordt's syndrome	ACE CAT CD14 CEL CHI3L1 CHIT1 CYP21A2 CYP27B1 EPHX2 FCGR3B IL18R1 LGALS1 LYZ MANBA MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PLB1 PTGS2 RECK SELE SLC27A5 SMUG1 SOAT1 ST8SIA4 VTCN1	1056 10998 1116 1118 151056 1589 1594 1636 2053 2215 23583 3956 4069 4126 4360 4684 5290 5291 5293 5294 5743 6401 6646 7903 79679 83666 8434 847 8809 929	Homo sapiens (human)	DisGeNET
DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia	ACAN CHST3 GLB1 HSPG2	176 2720 3339 9469	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:12697	locked-in syndrome Aliases: Locked in syndrome Locked-in state	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110166	Charcot-Marie-Tooth disease axonal type 2H Aliases: AR-CMT2C Autosomal recessive axonal CMT4C2 Axonal Charcot-Marie-Tooth disease with pyramidal involvement CMT2H Charcot-Marie-Tooth disease type 2H autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features	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:6482	lung acinar adenocarcinoma Aliases: acinar adenocarcinoma of the lung	LGALS4 TNKS	3960 8658	Homo sapiens (human)	DisGeNET
DOID:12171	radial neuropathy	PRNP	5621	Homo sapiens (human)	DisGeNET
DOID:1849	cannabis dependence	ACE ADH1C CBR1 CD38 CHAT COMT CYP1A2 CYP2B6 CYP2C9 FCGR3B FDFT1 GLUL HPRT1 MGLL NCAM1 PPT1 PTGS2 SULT1E1 XYLT2	1103 11343 126 1312 1544 1555 1559 1636 2215 2222 2752 3251 4684 5538 5743 64132 6783 873 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9637	stomatitis	CAT CYP2B6 FCGR3B MICA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PPT1 PSAP PTGS2 UGT1A1 UNG	100507436 142 1555 2215 5290 5291 5293 5294 54658 5538 5660 5743 7374 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	ACE ACHE CEACAM6 CHI3L1 CHIT1 CYP27A1 DLD EXT1 EXT2 FUT10 GFRA2 GLCE GLDC GNE MASP2 PLA2G6 PRNP PSAP SARM1 SMUG1 SPTLC1 ST3GAL4 SUCLA2 TMED9	10020 10558 10747 1116 1118 1593 1636 1738 2131 2132 23098 23583 26035 2675 2731 43 4680 54732 5621 5660 6484 8398 84750 8803	Homo sapiens (human)	DisGeNET
DOID:5566	mature teratoma	ACAT1 ALPP DHCR24 FMOD FUT1 GFRA1 ME1 MRC1 PGM1 PSMD10 PTEN	1718 2331 250 2523 2674 38 4199 4360 5236 5716 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4953	poliomyelitis	CHAT ICAM1 MMUT MRC1 PIK3CA	1103 3383 4360 4594 5290	Homo sapiens (human)	DisGeNET
DOID:824	periodontitis Aliases: chronic pericementitis	ACACA ACE ALPP APRT CALR CAT CD14 CD1D CD38 CD44 CD74 CEACAM7 CHGA CYP1A1 CYP1B1 CYP2E1 DDOST DLD ENO1 ENO3 FCGR3B FCN2 FMOD GAD1 GGT1 GLT6D1 GPX1 HPGDS ICAM1 IL18R1 IL1R1 INPP5D KLRB1 MBL2 NAMPT NT5E OCRL PIK3CA PIK3CB PIK3CD PIK3CG PNP PPARA PTGDS PTGES2 PTGES3 PTGES PTGS2 RECK SELE SELL SFTPD SIGLEC5 SLC2A4 SLC33A1 SMC3 ST8SIA4 STS TNF TNFRSF10C VCAM1	10135 10728 1087 1113 1543 1545 1571 1636 1650 1738 2023 2027 2215 2220 2331 250 2571 2678 27306 2876 31 3383 353 3554 360203 3635 3820 412 4153 4860 4907 4952 5290 5291 5293 5294 5465 5730 5743 6401 6402 6441 6517 7124 7412 7903 80142 811 8434 847 8778 8794 8809 912 9126 9197 929 952 9536 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3012	Li-Fraumeni syndrome Aliases: LFS Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome	CD44 CYP19A1 DCN IDH1 PKM PTEN TP53	1588 1634 3417 5315 5728 7157 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0080855	Parkinsonism	ABAT BAD COMT ENO2 GBA1 GFRA1 GFRA2 GSK3A KCNJ11 PTGS2	1312 18 2026 2629 2674 2675 2931 3767 572 5743	Homo sapiens (human)	Alliance of Genome Resources
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)	DisGeNET Alliance of Genome Resources
DOID:4660	indolent systemic mastocytosis Aliases: ISM	CALR CD33 CD38 CEL ETNK1 FCER2 FH HS2ST1 ICAM1 IDH2 PLA2G2E SMPD1	1056 2208 2271 30814 3383 3418 55500 6609 811 945 952 9653	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5495	monophasic synovial sarcoma Aliases: Monophasic sarcoma of Synovium	CD38	952	Homo sapiens (human)	DisGeNET
DOID:2527	nephrosis	ABO ACACA ACACB ACE ACSL1 AGPAT2 AKR1B1 ALG1 ALOX12 ALPL APRT ARSA ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP11A1 CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP3A5 DCN DDOST DGKE ELOVL5 ENO1 ENO2 ENPP1 FADS2 FAR2 FMOD G6PC1 G6PD GAD1 GAD2 GAS1 GCK GFPT1 GLA GLO1 GPX1 GPX3 HAS2 HAS3 HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KL LCAT LGALS3 LIPC LYZ MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 OGA PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G2A PLA2R1 PLAUR PLB1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SELE SELL SFTPD SGPL1 SIGLEC1 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SOAT1 SORD STS SULT1E1 TM7SF2 TREH UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10555 1056 10724 10747 10855 1116 1118 11181 1178 142 1462 1497 151056 1555 1557 1558 1559 1571 1577 1583 1588 1591 1594 1634 1636 1650 2023 2026 2180 22908 22925 231 2331 23417 239 249 2538 2539 2542 2571 2572 2619 2645 26503 2673 2717 27293 2739 28 2876 2878 29071 3037 3038 31 32 3251 3291 3339 3340 3383 353 3554 3635 3931 3958 3990 4069 410 412 4153 4191 4669 4684 5048 5067 5091 51548 5167 5290 5291 5293 5294 5310 5311 5320 5329 5563 55711 56052 56623 56913 5728 5730 5742 5743 5973 60481 6319 6382 6383 6385 6401 6402 64131 64132 6441 6514 6523 6614 6646 6652 6783 7108 7367 7369 7412 78989 79679 811 847 8526 8879 9104 9197 9365 9415 9536	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050730	coenzyme Q10 deficiency disease Aliases: COENZYME Q10 DEFICIENCY, PRIMARY	COQ2	27235	Homo sapiens (human)	Alliance of Genome Resources
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)	DisGeNET
DOID:1391	Norum disease Aliases: LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY lecithin acyltransferase deficiency	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9212	pityriasis rubra pilaris Aliases: Devergie's disease	CAT CNTN3 GAD1 PIK3CA PIK3CB PIK3CD PIK3CG PRNP	2571 5067 5290 5291 5293 5294 5621 847	Homo sapiens (human)	DisGeNET
DOID:0060802	syndromic X-linked intellectual disability Snyder type Aliases: SRS Snyder-Robinson mental retardation syndrome Snyder-Robinson syndrome mental retardation, X-linked, Snyder-Robinson type spermine synthase deficiency	GPI PIK3CA PIK3CB PIK3CD PIK3CG	2821 5290 5291 5293 5294	Homo sapiens (human)	DisGeNET
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	54187	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:654	overnutrition	ACHE ECHS1 GPAM LPL MOGAT1 PRKAA2	116255 1892 4023 43 5563 57678	Homo sapiens (human)	DisGeNET

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