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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 **2176 - 2200** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:14402	critical illness polyneuropathy	ACE AGRN ARSA B3GAT1 CAT CD55 CHAT COMT CYP7B1 DEGS1 FUCA1 GPX1 HADHB MAG NGLY1 PMM2 PNP PNPLA6 PRNP PRPS1 PSAP RPIA SCP2 TKT	10908 1103 1312 1604 1636 22934 2517 27087 2876 3032 375790 4099 410 4860 5373 55768 5621 5631 5660 6342 7086 847 8560 9420	Homo sapiens (human)
DOID:467	venous hemangioma	LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG TM7SF2	3958 5290 5291 5293 5294 7108	Homo sapiens (human)
DOID:11836	clubfoot Aliases: Congenital equinovarus Equinovarus deformity of foot congenital clubfoot congenital talipes equinovarus	ACSL4 AGA AKR1C1 ALG12 ALG13 ALG14 ALG2 ALG3 ALG8 ARSI ATP6AP2 ATP6V0A2 ATP6V1A B3GALT6 B3GAT3 B4GALT7 CHAT CHST14 CHST3 COG1 COG4 COG8 COMT CPT2 CYP1A1 DHCR24 DPAGT1 DPM3 DSE EBP EOGT EXT1 EXT2 FASN GFPT1 GMPPB GNPTAB GPC3 GUSB HACD1 HADHA HADHB HS6ST1 HSD17B4 HSPG2 IL1RAPL1 INPP5E L1CAM MGAT2 MTMR2 PI4KA PLOD3 PMM2 POMT1 PTEN RFT1 SC5D SLC26A2 SLC35A2 SMC3 TGDS XYLT1 XYLT2	10159 10195 10585 10682 1103 11141 11285 113189 126792 1312 1376 1543 1645 1718 175 1798 1836 199857 2131 2132 2182 2194 23483 23545 25839 26229 2673 2719 285203 2990 29925 29940 3030 3032 3295 3339 340075 3897 4247 523 5297 5373 54344 56623 5728 6309 64131 64132 7355 79053 79087 79158 79868 84342 85365 8898 8985 9126 91869 9200 9382 9394 9469	Homo sapiens (human)
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	ACAA1 ACACA ACACB ACE ACHE ACSBG1 ACSF3 AKR1A1 AKR1C1 AKR1C3 ALG1 ALPP AMACR ANXA5 APRT ATRNL1 CAT CD14 CD22 CD33 CD38 CD44 CD55 CD74 CDH13 CDS1 CEACAM5 CEL CFC1 CHI3L1 CLEC10A CNTN2 COMT CS CSPG4 CYP17A1 CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2B6 CYP2C9 CYP2E1 EPHX2 FASN FBP1 FCER2 FCGR3B FCN2 FH FMOD FUT1 G6PD GAPDH GBA1 GBE1 GFRA1 GGT1 GLB1 GLDC GPX1 H6PD HACD1 HK2 HPGDS HYAL2 ICAM1 IDH1 IDH2 IL1R1 IL1RAPL1 INPP5D ITPKB KDSR KL KLRK1 LDHA LGALS1 LGALS3 LY6G6D LYPD5 MASP2 MCAT MRC1 MTAP NAMPT NCAM1 NTHL1 OGG1 PAFAH1B1 PARP1 PARP9 PC PDHX PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PRKAA2 PSMD10 PTEN PTGS2 SDC1 SELE SELL SHMT1 SHMT2 SIGLEC10 SIRT4 SLC27A5 SLC2A2 SLC2A3 SLC2A4 SLC35B2 SMUG1 SOAT1 SPHK1 STS TMEM260 VCAM1 VNN1 VTCN1	1012 10135 10327 1040 10462 1048 1056 10747 10998 11141 1116 1312 142 1431 1464 1543 1545 1555 1559 1571 1586 1591 1594 1604 1636 1645 197322 200576 2053 2194 2203 2208 2215 2220 2271 22914 23205 2331 23409 23583 23600 250 2523 2531 2539 2597 26033 2629 2632 2674 2678 2720 27306 2731 27349 284348 2876 30 308 3099 31 32 3383 3417 3418 347734 353 3554 3635 3707 3939 3956 3958 412 43 4360 4507 4684 4913 4968 5048 5091 5290 5291 5293 5294 5315 54916 5563 55997 56052 5716 5728 5743 58530 6382 6401 6402 6470 6472 6514 6515 6517 6646 6900 7412 79679 8050 83666 847 8644 8692 8876 8877 89790 9200 929 933 9365 945 952 9563 960 972	Homo sapiens (human)
DOID:1587	thrombocytopenia due to platelet alloimmunization Aliases: Auto-immune thrombocytopenia Immune thrombocytopenia Thrombocytopenia Due to Immune Destruction	CD44 CD72 CLEC1B HPSE MBD4 MRC1 NCAM1 PTEN PTGS1 SELP	10855 4360 4684 51266 5728 5742 6403 8930 960 971	Homo sapiens (human)
DOID:4943	adenocarcinoma in situ	CYP1A1 NCAM1 PTEN SMUG1 STS	1543 23583 412 4684 5728	Homo sapiens (human)
DOID:0060278	pontocerebellar hypoplasia type 9	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:4085	trophoblastic neoplasm Aliases: Trophoblastic tumor	HSD3B1 LGALS1	3283 3956	Homo sapiens (human)
DOID:10146	thymus lymphoma	MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	4360 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	AGXT	189	Homo sapiens (human)
DOID:4163	ganglioneuroblastoma	CD44 GAPDH LGALS3 NCAM1 SIGLEC7	2597 27036 3958 4684 960	Homo sapiens (human)
DOID:0110552	autosomal dominant nonsyndromic deafness 22 Aliases: DFNA22 autosomal dominant deafness 22	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:3981	pantothenate kinase-associated neurodegeneration Aliases: Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 Pigmentary pallidal degeneration brain Iron Accumulation type I syndrome neurodegeneration with brain iron accumulation 1	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	MTM1 MTMR14	4534 64419	Homo sapiens (human)
DOID:12678	hypercalcemia	ACADVL ACE ADH1A AGXT ALG12 ALPL ALPP ATRNL1 CD44 COMT CYP24A1 CYP27B1 CYP2B6 CYP2R1 DLST ENPP1 FH GALNT3 GRHPR HADHA HADHB HOGA1 HSD11B2 IDS KL MDH2 OCRL PIGT PIK3C2A PTGS2 SDHA SDHB SDHC SDHD SLC3A1 SLC5A1 SMUG1 STS	112817 120227 124 1312 1555 1591 1594 1636 1743 189 2271 23583 249 250 2591 26033 3030 3032 3291 3423 37 412 4191 4952 51604 5167 5286 5743 6389 6390 6391 6392 6519 6523 79087 9365 9380 960	Homo sapiens (human)
DOID:0060768	Smith-Magenis syndrome Aliases: 17p11.2 microdeletion syndrome chromosome 17p11.2 deletion syndrome	CYP11A1 FREM1 GAD2 NT5M PAFAH1B1 PRNP STS	1583 158326 2572 412 5048 5621 56953	Homo sapiens (human)
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	NT5E PNPLA6	10908 4907	Homo sapiens (human)
DOID:711	refractory hairy cell leukemia	CD22	933	Homo sapiens (human)
DOID:0050693	Brooke-Spiegler syndrome Aliases: BRSS BSS CYLD cutaneous syndrome SBS Spiegler-Brooke Syndrome	PNPLA6 XYLT1	10908 64131	Homo sapiens (human)
DOID:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	ALPP ANXA5 ATRNL1 B3GAT1 CEACAM5 CEACAM7 COMT DCN ENO2 FCGR3B ICAM1 LTA4H NCAM1 PKM SCD SMUG1 TKT VTCN1	1048 1087 1312 1634 2026 2215 23583 250 26033 27087 308 3383 4048 4684 5315 6319 7086 79679	Homo sapiens (human)
DOID:854	collagen disease Aliases: collagen disorder	ACE B3GALT6 B4GALT7 CD22 COL9A2 CYP3A5 DCN GLB1 HPRT1 NT5E PCYT1A PKD1 PKD2 PLOD3 SCP2 SELE SLC2A10 TLR4	11285 126792 1298 1577 1634 1636 2720 3251 4907 5130 5310 5311 6342 6401 7099 81031 8985 933	Homo sapiens (human)
DOID:11219	conjunctival folliculosis Aliases: acute follicular conjunctivitis	PLD3	23646	Homo sapiens (human)
DOID:0110437	dilated cardiomyopathy 1K Aliases: CMD1K	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:0110203	Charcot-Marie-Tooth disease recessive intermediate D Aliases: CMTRID RI-CMT type D autosomal recessive intermediate Charcot-Marie-Tooth disease type D	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:5495	monophasic synovial sarcoma Aliases: Monophasic sarcoma of Synovium	CD38	952	Homo sapiens (human)

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