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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 **6476 - 6500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:5702	pleomorphic liposarcoma	CALR CD38 CPM ENPP2 FASN GPNMB KL NANS PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PNPLA3 PSMD10 PTEN SDC1 SMUG1 STS	10457 1368 142 2194 23583 412 5168 5290 5291 5293 5294 54187 57104 5716 5728 6382 80339 811 9365 952	Homo sapiens (human)
DOID:3095	germ cell and embryonal cancer	ACE AKR1C1 AKR1C3 ALPP AMACR ATRNL1 CD44 CLEC10A CYP19A1 DHDH GFRA1 GOLPH3 GPC3 HPGDS IDH1 IDH2 LGALS3 LIPG LPL PARP1 PCYT1A PIGF PIK3CA PIK3CB PIK3CD PIK3CG PRSS21 PSMD10 PTEN SLC2A3 SMUG1 TDG TKTL1	10462 10942 142 1588 1636 1645 23583 23600 250 26033 2674 2719 27294 27306 3417 3418 3958 4023 5130 5281 5290 5291 5293 5294 5716 5728 64083 6515 6996 8277 8644 9388 960	Homo sapiens (human)
DOID:1272	telangiectasis Aliases: telangiectasia	ACE CEACAM5 DGKE DPM1 PEMT PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE TALDO1	10400 1048 1636 27315 284098 5290 5291 5293 5294 55650 5728 6401 6888 84720 84992 8526 8813 93210 9487	Homo sapiens (human)
DOID:9080	macroglobulinemia Aliases: primary macroglobulinemia	ACADVL ACSBG1 ANXA5 CD22 CD38 CD55 CLEC12A COLEC10 FCER2 HAS1 HAS2 HMMR LIPC LPL NAMPT NCAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 SLC35B2 SMUG1 SOAT1	10135 10584 160364 1604 2208 23205 23583 3036 3037 308 3161 347734 37 3990 4023 4684 5290 5291 5293 5294 5336 6646 933 952	Homo sapiens (human)
DOID:3267	mucinous ovarian cystadenoma Aliases: Ovarian mucinous Cystadenoma mucinous cystadenoma of ovary	FH	2271	Homo sapiens (human)
DOID:8956	cowpox Aliases: yaba	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)
DOID:0110800	hereditary spastic paraplegia 48 Aliases: SPG48 autosomal recessive spastic paraplegia 48 autosomal recessive spastic paraplegia type 48	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	Homo sapiens (human)
DOID:10310	viral meningitis	ACE CD14 ENO2 GALNS ICAM1 LTA4H MBL2 MRC1 OGG1 PARP1 SMUG1 TPI1 VCAM1	142 1636 2026 23583 2588 3383 4048 4153 4360 4968 7167 7412 929	Homo sapiens (human)
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	ALDH7A1 CAT CYP7A1 MMUT PEMT SCD	10400 1581 4594 501 6319 847	Homo sapiens (human)
DOID:0060833	Griscelli syndrome type 2 Aliases: GS2 Griscelli syndrome with hemophagocytic syndrome Griscelli-Prunieras syndrome type 2 PAID syndrome hypopigmentation-immunodeficiency with or without neurologic impairment syndrome partial albinism and immunodeficiency syndrome	GLUL IDS	2752 3423	Homo sapiens (human)
DOID:0040099	livedoid vasculitis Aliases: livedoid vasculopathy	AGA FUCA1 NEU1 PTEN	175 2517 4758 5728	Homo sapiens (human)
DOID:4483	rhinitis	ACE CD14 HPGDS ICAM1 IL1RL1 LEP MBL2 PGP PTGDS SFTPD SIGLEC7 ST8SIA4 TLR2 TLR6 TNF	10333 1636 27036 27306 283871 3383 3952 4153 5730 6441 7097 7124 7903 9173 929	Homo sapiens (human)
DOID:0111530	linear nevus sebaceous syndrome Aliases: JNP Jadassohn nevus phakomatosis SFM syndrome Schimmelpenning Feuerstein Mims syndrome Schimmelpenning syndrome Solomon syndrome nevus sebaceus of Jadassohn nevus sebaceus syndrome organoid nevus phakomatosis organoid nevus syndrome	ENPP1	5167	Homo sapiens (human)
DOID:0110348	osteogenesis imperfecta type 12 Aliases: OI12 osteogenesis imperfecta type XII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:9778	irritable bowel syndrome Aliases: IBD Irritable colon	ACE ACHE ACSBG1 AGA AKR1B1 ARSA CAT CD14 CEACAM6 CHGA COMT CYP2B6 CYP4F3 GLB1 GLUL HSD11B1 HSD11B2 IL18R1 KLB LCT MBL2 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PTGS2 SI SLC26A2	1113 1312 152831 1555 1636 175 1836 231 23205 2720 2752 2923 3290 3291 3938 4051 410 4153 43 4680 5290 5291 5293 5294 5315 5743 6476 847 8809 929	Homo sapiens (human)
DOID:0060476	Perlman syndrome Aliases: nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor renal hamartomas, nephroblastomatosis and fetal gigantism	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:2772	irritant dermatitis Aliases: irritant contact dermatitis primary irritant dermatitis	APRT CBR1 PLCD1 PLCG1	353 5333 5335 873	Homo sapiens (human)
DOID:13137	Werdnig-Hoffmann disease Aliases: HMN (Hereditary motor Neuropathy) Proximal type I SMA1 Spinal muscular atrophy 1 hereditary motor neuropathy proximal type I infantile muscular atrophy progressive muscular atrophy of infancy	APRT HEXA HSPG2	3073 3339 353	Homo sapiens (human)
DOID:8634	prostate carcinoma in situ Aliases: PIN III carcinoma in situ of prostate grade III PIN	AMACR APEX1 CYP19A1 PRSS8 PTGS2	1588 23600 328 5652 5743	Homo sapiens (human)
DOID:0060875	isolated growth hormone deficiency type III Aliases: Fleisher syndrome IGHD III X-linked IGHD X-linked agammaglobulinemia and isolated growth hormone deficiency X-linked hypogammaglobulinemia and isolated growth hormone deficiency X-linked isolated growth hormone deficiency congenital IGHD type III congenital isolated GH deficiency type III congenital isolated growth hormone deficiency type III growth hormone deficiency with hypogammaglobulinemia	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)
DOID:0110845	xeroderma pigmentosum group D Aliases: XP group D XP group H XP4 XP8 XPD XPDC XPH xeroderma pigmentosum IV xeroderma pigmentosum VIII	CAT COMT CYP1B1 HPGDS HPRT1 ICAM1 OGG1 PTEN SLC35A2 SMUG1 TALDO1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 XYLT2	1312 1545 23583 27306 3251 3383 4968 54575 54576 54577 54578 54579 54600 54657 54658 54659 56886 5728 64132 6888 7355 847	Homo sapiens (human)
DOID:3540	choroid plexus cancer Aliases: tumor of choroid plexus tumor of the Choroid Plexus	ENPP2 PLAUR	5168 5329	Homo sapiens (human)
DOID:2526	prostate adenocarcinoma	ACACA ADIPOQ AKR1C3 AKT1 AKT2 ALOX15B AMACR APRT BRAF CALR CCDC115 CD44 CEACAM5 CYP19A1 CYP7B1 DCXR FASN GAD1 HADHB HPGDS IDH1 PIK3CA PIK3CB PLPP1 PPT1 PTEN PTGS2 SCD SFTPD SIGLEC7 UGT2B15 VCAN	1048 1462 1588 207 208 2194 23600 247 2571 27036 27306 3032 31 3417 353 51181 5290 5291 5538 5728 5743 6319 6441 673 7366 811 84317 8611 8644 9370 9420 960	Homo sapiens (human)
DOID:0110135	Bardet-Biedl syndrome 13 Aliases: BBS13	INPP5E PIGX	54965 56623	Homo sapiens (human)
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)

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