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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 **4601 - 4625** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:600	animal phobia Aliases: Fear of animals Zoophobia	CAT DDOST	1650 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3 Aliases: M syndrome light fixation seizure syndrome	PIGT	51604	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:559	acute pyelonephritis	ACE ICAM1 MBL2 PTGS2 RBP4 SMUG1 UGT1A1	1636 23583 3383 4153 54658 5743 5950	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110679	congenital myasthenic syndrome 4C Aliases: CMS Id CMS1D CMS4C FIM1 congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency congenital myasthenic syndrome type Id familial infantile myasthenia 1	GFPT1	2673	Homo sapiens (human)	DisGeNET
DOID:445	Bartter disease Aliases: Aldosteronism with hyperplasia of the adrenal cortex Bartter's syndrome	ATP6AP2 CD44 CHST3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 CYP4F3 G6PD HSD11B2 HSD3B1 HSD3B2 LGALS3 OCRL PRSS8 PTGS2 SLC26A2 SLC33A1 SLC5A1	10159 1583 1584 1585 1586 1589 1836 2539 3283 3284 3291 3958 4051 4952 5652 5743 6523 9197 9469 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0080354	Phelan-McDermid syndrome Aliases: 22q13.3 deletion syndrome monosomy 22q13 syndrome	ARSA PNPLA3	410 80339	Homo sapiens (human)	DisGeNET
DOID:0060870	isolated growth hormone deficiency Aliases: IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency	ACSM3 ADH5 AGPAT2 CD44 CD55 CYP17A1 CYP19A1 CYP3A4 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 INPPL1 L1CAM LPL MMUT NT5E PIK3CA PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 SRD5A3 STS TYMP XYLT1	10555 10908 128 148738 1576 1586 1588 1604 1890 2619 2710 2817 3293 3636 3897 4023 412 4594 4907 5290 5373 55512 6296 64131 6646 79644 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050719	cerebral folate receptor alpha deficiency Aliases: Neurodegeneration due to cerebral folate transport deficiency	FOLR1 FOLR2	2348 2350	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:6088	acute stress disorder Aliases: traumatic stress disorder	ACHE	43	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:529	blepharospasm	AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS DLAT EPM2A GBA1 GCDH GCSH GLDC GLYCTK HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1	10715 1203 132158 151056 1557 1593 1737 22901 23236 23556 26275 2629 2639 2653 2731 27315 275 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:178	vascular disease Aliases: vascular tissue disease	ABO ACE ACSL1 ADH1B ADIPOQ AKR1B1 ALDH2 CAT CD38 CHI3L1 CYP19A1 CYP2C9 CYP4F2 DCN DDOST DLAT DLD ENO2 FCGR3B FCN2 FOLR2 G6PD GLA GLO1 GPI HPSE ICAM1 ISYNA1 KL LGALS3 LIPC LIPG LPCAT3 LPL MBL2 NAMPT OLR1 PAFAH1B1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G2A PLA2G7 PLB1 PNP PRKAA2 PTEN PTGS2 RENBP SELE SELL SLC2A10 SLC2A4 SMUG1 SOAT1 SPHK2 TM7SF2 VCAM1 VCAN	10135 10162 10855 1116 125 1462 151056 1559 1588 1634 1636 1650 1737 1738 2026 217 2180 2215 2220 231 2350 23583 2539 2717 2739 28 2821 3383 3958 3990 4023 4153 4860 4973 5048 51477 5290 5291 5293 5294 5320 5563 56848 5728 5743 5973 6401 6402 6517 6646 7108 7412 7941 81031 847 8529 9365 9370 9388 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	ADIPOQ ALDH5A1 ALOX15 AMACR ARSD CAT CHAT ENO2 EPM2A FBP1 FBP2 FOLR1 FOLR2 HAGH HPRT1 L1CAM NTNG1 PAFAH1B1 SIRT2 ST3GAL5	1103 2026 2203 22854 22933 2348 2350 23600 246 3029 3251 3897 414 5048 7915 7957 847 8789 8869 9370	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:7457	enterobiasis Aliases: Oxyuris vermicularis infection Threadworm infection	ABO CD38 CD44 COLEC11 FCER2 FCN2 HPGDS LGALS3 LYPD5 MBL2 MICA PC	100507436 2208 2220 27306 28 284348 3958 4153 5091 78989 952 960	Homo sapiens (human)	DisGeNET
DOID:4852	pleomorphic xanthoastrocytoma Aliases: Pleomorphic Xantho-astrocytoma	BRAF IDH1 IDH2 MOGS	3417 3418 673 7841	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1882	atrial heart septal defect Aliases: atrial septal defect atrioseptal defect auricular septal defect congenital atrial septal defect interatrial septal defect interauricular septal defect	ACADVL ALG12 ARSA ARSD ATP6V1A B3GALT6 B3GAT3 B3GLCT CAT CFC1 CHST14 CHST3 COMT CYP11A1 CYP11B2 CYP1B1 CYP2E1 DSE FIG4 FKTN G6PC3 GAA GPC3 GPC6 MASP1 MMUT PCYT1A PIGA PIGN PIGQ PLD1 PTEN RENBP SMC3 TALDO1 TGDS TKT XYLT2	10082 113189 126792 1312 145173 1545 1571 1583 1585 2218 23483 23556 2548 26229 2719 29940 37 410 414 4594 5130 523 5277 5337 55997 5648 5728 5973 64132 6888 7086 79087 847 9091 9126 92579 9469 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5442	eccrine acrospiroma Aliases: Eccrine hidradenoma Eccrine hidradenoma of skin Poroma	CEACAM5	1048	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0070137	autosomal recessive cutis laxa type IIB Aliases: ARCL2, progeroid type ARCL2B	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:14227	azoospermia	ALPI ALPP ART3 CACNA2D1 CAT CD44 CYP19A1 DPY19L2 ELOVL6 FUT1 HJV HPGDS ISYNA1 MICA NDST1 NDST2 NDST3 NDST4 OCRL PARP2 PDHA2 PGD PGK2 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCH2 SCP2 SRD5A2 STS TEX101	10038 100507436 148738 1588 248 250 2523 27306 283417 3340 412 419 4952 51477 5161 5226 5232 5290 5291 5293 5294 5310 6342 64579 6716 781 79071 83639 847 8509 9348 960 9651	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:8619	recurrent hypersomnia Aliases: primary recurrent hypersomnia	ABAT CD55 CHKB COMT HACD1 LGALS3 PNPLA6 PRNP SMUG1	10908 1120 1312 1604 18 23583 3958 5621 9200	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070145	hereditary sensory and autonomic neuropathy type 5 Aliases: HSAN5 hereditary sensory and autonomic neuropathy type V	CAT HPGDS SPTLC1	10558 27306 847	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110161	Charcot-Marie-Tooth disease type 2R Aliases: CMT2R Charcot-Marie-Tooth neuropathy type 2R autosomal recessive axonal Charcot-Marie-Tooth disease type 2R	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:0110519	autosomal recessive nonsyndromic deafness 68 Aliases: DFNB68 autosomal recessive 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)	DisGeNET
DOID:869	cholesteatoma	CLEC10A CLEC12B CLEC5A CLEC6A CLEC7A LY75 MGLL MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTGS2 STS TLR2 TLR4	10462 11343 23601 387837 4065 412 4360 5290 5291 5293 5294 5716 5743 64581 7097 7099 93978	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1829	urethral stricture	ARSA	410	Homo sapiens (human)	DisGeNET
DOID:0110057	amelogenesis imperfecta type 2A1 Aliases: AI2A1 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET

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