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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 **2101 - 2125** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:1967	leiomyosarcoma Aliases: Leiomyosarcomas	ACSL4 DHCR24 DPEP1 FASN FCGR3B FH GGT1 HMMR IL1R1 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 SLC33A1 SMUG1 VCAN	142 1462 1718 1800 2182 2194 2215 2271 23583 2678 3161 3554 4360 5290 5291 5293 5294 57104 5728 5743 9197	Homo sapiens (human)	DisGeNET
DOID:3368	Ewing sarcoma of bone Aliases: Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor bone Ewing sarcoma bone localized Ewing sarcoma bone localized Ewing's sarcoma localized Skeletal Ewing's sarcoma	NEU1 SMUG1	23583 4758	Homo sapiens (human)	DisGeNET
DOID:13399	color blindness Aliases: BLINDNESS COLOR Colour blindness Colour vision deficiency	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:7642	cholangiolocellular carcinoma	IDH1 NCAM1 PTEN	3417 4684 5728	Homo sapiens (human)	DisGeNET
DOID:0110439	dilated cardiomyopathy 1P Aliases: CMD1P	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)	DisGeNET
DOID:0111054	von Willebrand's disease 3 Aliases: VWD type 3 VWD3 von Willebrand disease type 3 von Willebrand disease type III	BAAT SACM1L SELP	22908 570 6403	Homo sapiens (human)	DisGeNET
DOID:0111225	centronuclear myopathy X-linked Aliases: CNMX MTM1 X-linked myotubular myopathy XLCNM XLMTM myotubular myopathy 1	ACHE IDS MTM1 MTMR14 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8	3423 43 4534 55613 64419 8776 8897 8898 9107 9108 9110	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060713	autosomal recessive congenital ichthyosis 4B Aliases: ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis	ALOX12B CD44 FCER2 PIGA PRSS8	2208 242 5277 5652 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:2921	glomerulonephritis	ABO ACACA ACACB ACE ACSL1 ACSL4 AGPAT2 AKR1B1 ALG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 APRT ARSA ART1 ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CD38 CD44 CD48 CD74 CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP3A5 DCN DDOST DGKE DLST ELOVL5 ENO1 ENO2 ENPP1 EPHX2 FADS2 FAR2 FCGR3B FCN2 FH FMOD G6PC1 G6PD GAD1 GAD2 GALNS GAPDH GAS1 GCK GFPT1 GLA GLO1 GPC5 GPX3 HAS2 HAS3 HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KL LAYN LCAT LGALS1 LGALS3 LGALS9 LIPC LPIN2 LTC4S LYZ MASP1 MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 NEIL3 NEU1 OCRL OGA OGG1 PAFAH1B1 PARP1 PC PIK3CG PKD1 PKD2 PKM PLA2G1B PLA2G2A PLA2G7 PLA2R1 PLAUR PLB1 PLCE1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SFTPD SIGLEC1 SIGLEC7 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SMUG1 SOAT1 SORD SPHK1 ST8SIA4 STS SULT1E1 TBXAS1 TM7SF2 TREH UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10555 1056 10724 10747 10855 1116 1118 11181 1178 142 143903 1462 1497 151056 1555 1557 1558 1559 1571 1573 1577 1588 1591 1594 1634 1636 1650 1743 2023 2026 2053 2180 2182 2215 2220 2262 2271 22908 22925 231 2331 23417 23583 239 240 246 249 2538 2539 2542 2571 2572 2588 2597 2619 2645 26503 2673 27036 2717 27293 2739 28 2878 29071 3037 3038 308 31 32 3251 3291 3339 3340 3383 353 3554 3635 3931 3956 3958 3965 3990 4056 4069 410 412 4153 417 4191 4669 4684 4758 4952 4968 5048 5067 5091 51196 51548 5167 5294 5310 5311 5315 5319 5320 5329 55247 5563 55711 56052 5648 56623 56913 5728 5730 5742 5743 5973 60481 6319 6382 6383 6385 6389 6390 6391 6392 6401 6402 6403 64131 64132 6441 6514 6523 6614 6646 6652 6783 6916 7108 7367 7369 7412 78989 7903 7941 79679 811 847 8526 8877 9104 9197 9365 9415 952 9536 960 962 9663 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	ACSS2 CBR1 PTGS2	55902 5743 873	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111157	Castleman disease Aliases: angiofollicular lymph hyperplasia angiofollicular lymph node hyperplasia giant lymph node hyperplasia lymphoid hamartoma	CD48 FUT4 MLYCD SMUG1	23417 23583 2526 962	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110414	retinitis pigmentosa 3 Aliases: RP3	COG4	25839	Homo sapiens (human)	DisGeNET
DOID:0080459	developmental and epileptic encephalopathy 12 Aliases: DEE12 early infantile epileptic encephalopathy 12	PLCB1	23236	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
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)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060538	purpura fulminans Aliases: purpura gangrenosa	ANXA5 CD14 COLEC11 MASP1 MBL2 NCAM1 PC PLD1 SDC1 SELL SLC17A5	26503 308 4153 4684 5091 5337 5648 6382 6402 78989 929	Homo sapiens (human)	DisGeNET DisGeNET
DOID:970	tenosynovitis Aliases: Inflammation of tendon sheath	ACLY ACSS2 CD44 CYP19A1 DHCR24 EFNA5 FOLR2 GPI HSD11B1 ICAM1 LGALS3 LPIN2 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRKAA2 PRNP PTGS1 SDC4 SMUG1 SOAT1 SPHK2 VCAM1	1588 1718 1946 2350 23583 23659 2821 3290 3383 3958 47 5290 5291 5293 5294 5563 55902 5621 56848 5742 6385 6646 7412 960 9663	Homo sapiens (human)	DisGeNET DisGeNET
DOID:12309	urticaria pigmentosa Aliases: UP/MPCM	CD44 CD72 DHCR24 DLD ENOSF1 ENPP3 GPX1 HSPG2 ICAM1 IDH2 MCAT	1718 1738 27349 2876 3339 3383 3418 5169 55556 960 971	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111394	mucopolysaccharidosis type IIIB Aliases: MPS3B MPSIIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency NAGLU deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB (Sanfilippo B)	GNS HGSNAT IDUA NAGLU NAGPA SGSH	138050 2799 3425 4669 51172 6448	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	ALG8 ALG9 ARF4 PKD1 PKD2 UMOD	378 5310 5311 7369 79053 79796	Homo sapiens (human)	DisGeNET
DOID:4078	tricuspid valve stenosis Aliases: Tricuspid stenosis	CHST3 HEXD OGA	10724 284004 9469	Homo sapiens (human)	DisGeNET
DOID:11786	splenic sequestration	SCD	6319	Homo sapiens (human)	DisGeNET
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	ALDH1A3	220	Homo sapiens (human)	DisGeNET DisGeNET
DOID:2566	corneal dystrophy	AGK CHST6 CTSA ELOVL4 GCDH GLA GNPTAB LCAT SELP STS	2639 2717 3931 412 4166 5476 55750 6403 6785 79158	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:4552	large cell carcinoma	CD44 CEACAM5 CYP1A1 GLDC ME1 SLC2A3	1048 1543 2731 4199 6515 960	Homo sapiens (human)	DisGeNET
DOID:9965	toxoplasmosis Aliases: disseminated toxoplasmosis	ACO1 ALOX12 CD44 DGAT1 FDPS FUT2 FUT3 GPAT3 HSPG2 ICAM1 IL18R1 MICA TPI1	100507436 2224 239 2524 2525 3339 3383 48 7167 84803 8694 8809 960	Homo sapiens (human)	DisGeNET

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