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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 **1951 - 1975** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:4840	sebaceous carcinoma Aliases: Malignant Sebaceous Neoplasm malignant Sebaceous tumor malignant neoplasm of sebaceous gland	ACSL5 CAT CD44 CD74 CEACAM5 COLEC10 CYP19A1 CYP1B1 FASN GPC3 HAS1 HSD17B7 KLRK1 LGALS1 LYPD5 MICA NEU1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SCD SDC1 SMUG1 UMPS	100507436 1048 10584 1545 1588 2194 22914 23583 2719 283871 284348 3036 3956 4758 51478 51703 5290 5291 5293 5294 5728 5743 6319 6382 7372 847 960 972	Homo sapiens (human)
DOID:440	neuromuscular disease	ACE ACHE ACSL4 APRT CHAT DAG1 FKRP GAA GFPT1 GNE GPI MAG MGAM MTM1 PIK3CA PIK3CB PIK3CD PKD1L2 POMT1 PTGS1 TPI1	10020 10585 1103 114780 1605 1636 2182 2548 2673 2821 353 4099 43 4534 5290 5291 5293 5742 7167 79147 8972	Homo sapiens (human)
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P Aliases: LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related	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)
DOID:1492	obsolete eye and adnexa disease	ACE AKR1A1 PLA2G7 SORD	10327 1636 6652 7941	Homo sapiens (human)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	POGLUT1	56983	Homo sapiens (human)
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	ACAT2 ACE ACHE ADH5 ALOX15 ALOX5 ALPP APRT ATRNL1 CALR CAT CBR1 CD14 CEACAM6 CHGA CHI3L1 CHI3L2 CHIT1 CHST2 CLEC10A CNTFR CS CTBS CYP19A1 CYP1A1 CYP1A2 CYP27A1 DGAT1 DHDDS DLD EFNA5 FCGR3B FCN3 FIG4 GAL3ST1 GAPDH GBA1 GFRA1 GLCE GLT8D1 GLUL GOT1 GPNMB GPX3 GPX7 GSK3A GSK3B HADHA HEXA HK1 HPGDS IGF2R IL18R1 INPP5B KL LGALS1 LGALS2 LGALS3 LGALS4 MDH1 MGAM MGLL MRC1 NAMPT NCAM1 NGLY1 OGA PARP1 PCYT1B PDIA3 PGK1 PIGL PLA2G4A PLCB1 PLCD1 PNPLA6 PPARGC1A PRNP PSAP PTEN PTGES PTGS2 SARM1 SCD SI SIGLEC7 SIRT2 SIRT6 SLC33A1 SLC35A1 SMUG1 SOAT1 ST3GAL3 SULT1E1 SYNJ1 SYNJ2 THEM4 TMED9 TNKS UGCG	10135 10457 10462 10559 10724 10891 10908 1113 1116 1117 1118 11343 117145 1271 128 142 1431 1486 1543 1544 1588 1593 1636 1738 1946 2215 22933 23098 23236 23583 240 246 250 2597 26033 26035 2629 2674 27036 27306 2752 2805 2878 2882 2923 2931 2932 3030 3073 3098 3482 353 3633 39 3956 3957 3958 3960 4190 43 4360 4680 4684 51548 5230 5321 5333 54732 55768 55830 5621 5660 5728 5743 6319 6476 6487 6646 6783 7357 79947 811 847 8547 8658 8694 873 8809 8867 8871 8972 9197 929 9365 9435 9468 9487 9514 9536 9896	Homo sapiens (human)
DOID:11211	buphthalmos Aliases: primary congenital glaucoma 3A simple buphthalmos	ARSD B3GAT3 CHST3 CYP1B1 CYP2B6 DAG1 FKRP FKTN FUT8 LARGE1 OCRL POMGNT1 POMT1 POMT2 PTEN	10585 1545 1555 1605 2218 2530 26229 29954 414 4952 55624 5728 79147 9215 9469	Homo sapiens (human)
DOID:1556	arthus reaction Aliases: Arthus phenomenon Arthus type urticaria	CD22 CD72	933 971	Homo sapiens (human)
DOID:0050789	tarsal-carpal coalition syndrome	ABO ALOX5 CD44 CDH13 CYB5R3 GAPDH GLB1 HPGDS MRC1 NEU1 PLAUR PRSS8 PTEN PTGS2 TM7SF2 TNKS UPP2	1012 151531 1727 240 2597 2720 27306 28 4360 4758 5329 5652 5728 5743 7108 8658 960	Homo sapiens (human)
DOID:0110485	autosomal recessive nonsyndromic deafness 27 Aliases: DFNB27 autosomal recessive deafness 27	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:0110206	Charcot-Marie-Tooth disease dominant intermediate F Aliases: CMTDIF autosomal dominant intermediate Charcot-Marie-Tooth disease type F	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)
DOID:0111421	familial apolipoprotein A5 deficiency Aliases: familial APOA5 deficiency familial apolipoprotein A-V deficiency	LPL	4023	Homo sapiens (human)
DOID:0110593	autosomal dominant nonsyndromic deafness 9 Aliases: DFNA9 autosomal dominant deafness 9	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:0110150	Charcot-Marie-Tooth disease type 1D Aliases: CMT1D Charcot-Marie-Tooth neuropathy type 1D HMSN ID HMSN1D hereditary motor and sensory neuropathy 1D	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)
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	CHST14	113189	Homo sapiens (human)
DOID:1340	pure red-cell aplasia Aliases: Red cell hypoplasia primary red cell aplasia pure red cell aplasia	ABO CD38 CD44 CD55 CYP1A1 CYP2E1 DGKZ ECI2 GPI HPGDS PGK1 SULF2 VCAM1	10455 1543 1571 1604 27306 28 2821 5230 55959 7412 8525 952 960	Homo sapiens (human)
DOID:13300	Scheuermann's disease Aliases: Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease	CD38 GNPTAB	79158 952	Homo sapiens (human)
DOID:13934	facial paralysis Aliases: Facial Palsy	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)
DOID:1702	ichthyosis vulgaris Aliases: Dominant congenital ichthyosiform erythroderma	ALOX12B STS	242 412	Homo sapiens (human)
DOID:4247	coronary restenosis	ACE CDH13 MBL2 TNF TP53	1012 1636 4153 7124 7157	Homo sapiens (human)
DOID:0060404	chromosome 17q12 deletion syndrome Aliases: 17q12 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0111531	bilateral optic nerve hypoplasia Aliases: ONH familial bilateral optic nerve hypoplasia isolated optic nerve hypoplasia/aplasia	ALDH1A3 B3GALNT2 CNTN4 CRPPA DHCR7 FKRP FKTN GMPPB LARGE1 POMGNT1 POMK POMT1 POMT2 SRD5A3	10585 148789 152330 1717 220 2218 29925 29954 55624 729920 79147 79644 84197 9215	Homo sapiens (human)
DOID:0110427	dilated cardiomyopathy 1V Aliases: CMD1V	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)
DOID:0050242	primary amebic meningoencephalitis Aliases: Naegleria fowleri infection	CYP51A1	1595	Homo sapiens (human)
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	ABO ACACA ACE ACOT7 ADIPOQ AGA APOD ATP6AP2 B3GAT1 CAT CD209 CD44 CYB5R4 CYP19A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP7A1 DCN DGAT1 ENPP1 FADS1 FASN FCN2 FCN3 FOLR2 G6PC1 G6PC2 GAD1 GAD2 GAS1 GCK GGT1 GLO1 GPX1 GYS2 HKDC1 HPSE2 HSD11B1 HSD11B2 HSPG2 ICAM1 IL1R1 INS KLB LCT LDHA LEP LGALS1 LIPG LPIN1 LPL MBL2 MCAT MGAT1 MGAT2 MGLL MICA NAMPT NANS OGA OGG1 OLR1 PCK1 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PLA2G7 PNPLA2 PNPLA3 PRKAA2 PTEN PTGS2 RBP4 SCD SDHC SFTPC SLC2A2 SLC2A3 SLC2A4 SOAT1 ST3GAL4 ST6GALNAC3 VCAM1	100507436 10135 10159 10724 11332 11343 120227 152831 1545 1581 1588 1591 1594 1634 1636 175 200576 2194 2220 23175 2350 2538 256435 2571 2572 2619 2645 2678 27087 27349 2739 28 2876 2998 30835 31 3290 3291 3339 3383 347 3554 3630 3938 3939 3952 3956 3992 4023 4153 4245 4247 4968 4973 5105 51167 5167 5290 5291 5293 5294 54187 5563 57104 5728 5743 57818 5950 60495 6319 6391 6440 6484 6514 6515 6517 6646 7412 7941 80201 80339 847 8547 8694 9370 9388 960	Homo sapiens (human)

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