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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 **5876 - 5900** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:12800	mucopolysaccharidosis VI Aliases: MPS VI - Maroteaux-Lamy syndrome Maroteaux - Lamy syndrome Maroteaux-Lamy syndrome arylsulfatase B deficiency deficiency of N-acetylgalactosamine-4-sulfatase	ACAN AGA APRT ARSA ARSB ARSG ARSH CANX CAT CD1D CD38 CTSA DPEP1 EXTL2 EXTL3 FUCA1 FUT1 GALNS GLB1 GNE GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 HYAL2 IDS IDUA L1CAM MAN2B1 NAGLU NEU1 NT5E OGA SGSH SLC26A2 SLC35G1 SPAM1 SUMF1 TNF	10020 10724 138050 159371 175 176 1800 1836 2135 2137 22901 2517 2523 2588 2720 2799 285362 2990 3373 3423 3425 347527 353 3897 410 411 4125 4669 4758 4907 5476 6448 6677 7124 79158 821 84572 847 8692 912 952	Homo sapiens (human)
DOID:0060705	X-linked lymphoproliferative syndrome 1 Aliases: XLP1	CD1D FUT1 HPGDS HPRT1 PLCG1	2523 27306 3251 5335 912	Homo sapiens (human)
DOID:0080146	childhood B-cell acute lymphoblastic leukemia	CD22 CD38 FCN2 FUT4 LIPA MBL2 PIK3CA PIK3CB PIK3CG SLC2A5	2220 2526 3988 4153 5290 5291 5294 6518 933 952	Homo sapiens (human)
DOID:3119	gastrointestinal system cancer Aliases: GI tumor digestive system cancer gastrointestinal tract cancer	ABO ACE ACYP2 AKR1B10 ALOX5 ALPP ASAH1 B4GALNT1 CALR CBR1 CD44 CEACAM5 CEACAM6 CEACAM7 CFC1 CHI3L1 CMAS CYP19A1 CYP2C19 CYP2E1 CYP3A4 CYP3A5 EBP EFNA2 FUT4 HK2 HPGDS HPSE ICAM1 IDH1 IGF2R KLRK1 LGALS1 LGALS9 MBD4 MUTYH OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLCE1 PTEN PTGS1 PTGS2 SDC1 SDHC SDHD SHMT2 SIGLEC7 SIRT2 TYMP UGT1A1 UGT1A7 UMPS	1048 10682 10855 1087 1116 1557 1571 1576 1577 1588 1636 1890 1943 22914 22933 240 250 2526 2583 27036 27306 28 3099 3383 3417 3482 3956 3965 427 4595 4680 4968 51196 5290 5291 5293 5294 5319 54577 54658 55907 55997 57016 5728 5742 5743 6382 6391 6392 6472 7372 811 873 8930 960 98	Homo sapiens (human)
DOID:0110225	Brugada syndrome 8 Aliases: BRGDA8	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:3973	thyroid gland medullary carcinoma Aliases: Medullary carcinoma of the Thyroid gland Ultimobranchial thyroid tumor Ultimobranchial thyroid tumour medullary thyroid carcinoma	APRT CBR1 CEACAM5 CEACAM7 CHGA CHPT1 CYP1A2 DHDDS FCN2 FUT4 G6PD GFRA1 GLB1 HK2 ICAM1 MCAT MRC1 NTM PIK3CA PIK3CB PIK3CD PIK3CG PNP PTGS1 PTGS2 RPIA SDHB SDHC SDHD SHMT1 SMUG1 SOAT1 SORD TYMP	1048 1087 1113 1544 1890 2220 22934 23583 2526 2539 2674 2720 27349 3099 3383 353 4360 4860 50863 5290 5291 5293 5294 56994 5742 5743 6390 6391 6392 6470 6646 6652 79947 873	Homo sapiens (human)
DOID:0060444	granular corneal dystrophy 2 Aliases: CGD2 avellino corneal dystrophy combined granular-lattice corneal dystrophy corneal dystrophy, Avellino type granular corneal dystrophy type 2	ACE CAT CD1D GCDH LPIN2 PARP1 SDC1	142 1636 2639 6382 847 912 9663	Homo sapiens (human)
DOID:0060295	complement component 2 deficiency	ACADVL ACE CALR CD55 CYP21A2 FCN3 MASP2 MBL2 OTOA	10747 146183 1589 1604 1636 37 4153 811 8547	Homo sapiens (human)
DOID:0050256	angiostrongyliasis	LGALS2	3957	Homo sapiens (human)
DOID:10965	spastic diplegia Aliases: Diplegic infantile cerebral palsy Infantile spastic cerebral palsy Little's disease Littles disease cerebral spastic infantile paralysis infantile diplegic cerebral palsy	ACHE ACSM1 ACSM2A ALDH3A2 ALPP ARSA ARSD ATRNL1 CAT CD109 CYP24A1 CYP3A4 EFNA5 GAD1 GCDH GLUL GMDS GPX1 HPRT1 IDH1 IDH2 IDUA MBL2 MECR MRC1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNP PTGS1 PTGS2 RENBP SOAT1 ST3GAL5 TIGAR TKTL1 UGT1A1	116285 123876 135228 1576 1591 1946 224 250 2571 26033 2639 2752 2762 2876 3251 3417 3418 3425 410 414 4153 43 4360 4860 51102 5160 5290 5291 5293 5294 5373 54658 57103 5742 5743 5973 6646 8277 847 8869	Homo sapiens (human)
DOID:1781	thyroid cancer Aliases: Thyroid gland neoplasm malignant neoplasm of thyroid gland malignant tumour of thyroid gland neoplasm of thyroid gland thyroid gland cancer thyroid neoplasm	ABO ACACA ACE AGK AGPS AKR1C2 ALOX12 ALOX15 AMACR ANXA5 APRT ARSA ASAH1 BAAT CAT CD1D CD44 CD74 CEACAM5 CNTN1 CYB5R3 CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2B6 CYP3A4 DCN DPEP1 ENPP2 FH FUCA1 G6PD GAPDH GFRA1 GLB1 GPC3 GPD2 GPLD1 GPX1 GPX3 GUSB HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2R IL1R1 INPP4B KL KLB L1CAM LDHA LGALS16 LGALS1 LGALS3 MBL2 MICA MINPP1 MRC1 MUTYH NAMPT NCAM1 NTHL1 PARP1 PARP4 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2R1 PRKAA2 PTEN PTGDS PTGES2 PTGES3 PTGS1 PTGS2 QPRT RECK RPIA SCD SDC1 SDC2 SDC4 SDHB SDHC SDHD SIRT4 SLC2A3 SMUG1 SOAT1 SORD SPHK1 TKTL1 ULBP2 UPP1 VCAN VTCN1	100507436 10135 1048 10728 10855 1272 142 143 1462 148003 152831 1543 1555 1576 1588 1591 1594 1634 1636 1646 1727 1800 2271 22925 22934 23409 23475 23583 23600 239 246 2517 2539 2597 2674 2719 2720 27306 28 2820 2822 2876 2878 2990 308 31 3251 3339 3383 3417 3418 3425 3482 353 3554 3897 3939 3956 3958 410 4153 427 4360 4595 4684 4913 5168 5209 5290 5291 5293 5294 5315 5563 55750 570 5728 5730 5742 5743 6319 6382 6383 6385 6390 6391 6392 6515 6646 6652 7378 79679 80142 80328 8277 8434 847 8540 8821 8877 912 9365 9562 960 972	Homo sapiens (human)
DOID:10595	Charcot-Marie-Tooth disease Aliases: CMT - Charcot-Marie-Tooth disease	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR1 MTMR2 MTMR3 MTMR4 MTMR6 MTMR7 MTMR8 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SGPL1 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 55613 5621 5631 5743 821 84649 847 8776 8879 8897 8898 9107 9108 9110 9517 960 9896	Homo sapiens (human)
DOID:1682	congenital heart disease Aliases: Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect	ABO ACE ALDH2 ALG9 ARSD B3GAT3 CFC1 COG7 DGCR2 EBP ENO1 ENO2 FKRP G6PC3 GALNT1 GCK GPX3 HAS2 HPGDS HYAL2 IDUA LGALS3 NTM OPCML PIGV PIK3CA PIK3CB PIK3CD PKD1 PKD2 PLCB2 PTEN PTGS2 RTN4RL1 SC5D SELP SFTPA1 SFTPA2 SHMT1 SLC2A3 SMUG1 TNFRSF10C WDR5	10682 11091 146760 1636 2023 2026 217 23583 2589 26229 2645 27306 28 2878 3037 3425 3958 414 4978 50863 5290 5291 5293 5310 5311 5330 55650 55997 5728 5743 6309 6403 6470 6515 653509 729238 79147 79796 8692 8794 91949 92579 9993	Homo sapiens (human)
DOID:12157	aseptic meningitis Aliases: acute aseptic meningitis	ACE ENO2 ICAM1 MRC1 TPI1	1636 2026 3383 4360 7167	Homo sapiens (human)
DOID:3737	verrucous carcinoma Aliases: Warty carcinoma verrucous squamous carcinoma verrucous squamous cell carcinoma	PTEN	5728	Homo sapiens (human)
DOID:0110589	autosomal dominant nonsyndromic deafness 68 Aliases: DFNA68 autosomal dominant deafness 68	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:0050540	Charcot-Marie-Tooth disease type 3 Aliases: DEJERINE-SOTTAS NEUROPATHY DEJERINE-SOTTAS SYNDROME	AMACR CAT CYP4F3 FIG4 GPX2 HPSE LPIN1 MTMR2 PLCB4 PLCE1 PTGS2	10855 23175 23600 2877 4051 51196 5332 5743 847 8898 9896	Homo sapiens (human)
DOID:3895	apocrine adenoma Aliases: tubular Apocrine adenoma	PIK3CA	5290	Homo sapiens (human)
DOID:4737	somatoform disorder Aliases: physiological malfunction arising from mental factor psychophysiologic disorder psychosomatic disorder	ACE COMT	1312 1636	Homo sapiens (human)
DOID:0110249	cataract 11 multiple types Aliases: CTRCT11	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:9505	cannabis abuse Aliases: marijuana abuse	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)
DOID:2047	hepatitis D Aliases: delta hepatitis	B3GAT1 GAPDH SLC35A2 SOAT1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	2597 27087 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 6646 7355	Homo sapiens (human)
DOID:12273	anisometropia	PTEN SLC35A2	5728 7355	Homo sapiens (human)
DOID:4626	hydranencephaly	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:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma Aliases: Hardcastle syndrome bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome	MTAP	4507	Homo sapiens (human)

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