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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 **6751 - 6775** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:2079	eccrine mixed tumor of skin Aliases: Eccrine mixed tumor Eccrine mixed tumour eccrine mixed tumour of skin mixed Eccrine neoplasm of the skin	CEACAM5	1048	Homo sapiens (human)
DOID:9370	obsolete exophthalmos Aliases: proptosis	ACHE ALG1 ALG9 ALPL B3GALT6 B4GALT7 COG4 EFNA5 FIG4 HAS2 ICAM1 PTEN SMUG1 UGDH XYLT1	11285 126792 1946 23583 249 25839 3037 3383 43 56052 5728 64131 7358 79796 9896	Homo sapiens (human)
DOID:4254	osteosclerosis	AGXT ALPL ARSA ATP6V0A2 CLC DEGS1 DHCR24 ENPP1 EXTL2 EXTL3 GBA1 HSPG2 LPIN2 PTDSS1 SLC26A2 TBXAS1	1178 1718 1836 189 2135 2137 23545 249 2629 3339 410 5167 6916 8560 9663 9791	Homo sapiens (human)
DOID:0111147	angioimmunoblastic T-cell lymphoma	DLAT GAPDH IDH1 IDH2 PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 SMUG1 STS	1737 23583 2597 3417 3418 412 5290 5291 5293 5294 5335	Homo sapiens (human)
DOID:0060158	acquired metabolic disease	PNPLA2 PNPLA3	57104 80339	Homo sapiens (human)
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	BRAF	673	Homo sapiens (human)
DOID:0060900	Parkinson's disease 14 Aliases: Dystonia-Parkinsonism Adult-Onset autosomal recessive Parkinson disease 14 autosomal recessive Parkinson's disease 14	PLA2G6	8398	Homo sapiens (human)
DOID:3755	antithrombin III deficiency Aliases: AT III deficiency hereditary thrombophilia due to congenital antithrombin deficiency	ABO ACE ALG6 ANXA5 CEACAM5 CEACAM7 CYP2C9 DLD DPM1 DPM2 GLA HPSE LCT MBL2 MGAT2 MPI NGLY1 PC PIGA PMM2 PPP1R3B PPP1R3C PTEN SCD SDC1 SELP SMPD1 SRD5A3 STS	1048 10855 1087 1559 1636 1738 2717 28 29929 308 3938 412 4153 4247 4351 5091 5277 5373 5507 55768 5728 6319 6382 6403 6609 79644 79660 8813 8818	Homo sapiens (human)
DOID:0110204	Charcot-Marie-Tooth disease recessive intermediate B Aliases: CMTRIB Charcot-Marie-Tooth neuropathy recessive intermediate B RI-CMTB autosomal recessive intermediate Charcot-Marie-Tooth disease type B	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:0080753	keratosis follicularis spinulosa decalvans	GNPNAT1	64841	Homo sapiens (human)
DOID:0080187	chronic neutrophilic leukemia	CALR CEL SOAT1	1056 6646 811	Homo sapiens (human)
DOID:1229	paranoid schizophrenia Aliases: Paranoid type schizophrenia Paraphrenia - late Paraphrenic schizophrenia chronic paranoid schizophrenia paranoid type schizophrenia subchronic state	ABO AKR1C4 ALDH3B1 CALR COMT CYP1A2 CYP2B6 DGCR2 HSD3B2 IMPA1 MANEA PLA2G6 SIGLEC7	1109 1312 1544 1555 221 27036 28 3284 3612 79694 811 8398 9993	Homo sapiens (human)
DOID:3183	childhood oligodendroglioma Aliases: pediatric Oligodendroglioma	ACLY CD44 CHI3L1 CNTN2 CSPG4 DHDDS ENO2 FASN GLUL HPSE HSPG2 IDH1 IDH2 LGALS1 LGALS3 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G4C PLCB1 PTEN PTGS2 SDHB SULT1E1 UGT8	10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 8605 960	Homo sapiens (human)
DOID:0060076	estrogen-receptor negative breast cancer	CYB5R3	1727	Homo sapiens (human)
DOID:255	hemangioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GNPTAB GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG MTM1 MTMR14 PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHB SDHC SDHD SLC2A1	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 4534 5281 5290 5291 5293 5294 5310 5476 57104 5728 6390 6391 6392 64419 6513 79158 811 8809 8813 929	Homo sapiens (human)
DOID:10323	byssinosis Aliases: Flax-dressers' disease Stripper's asthma cotton mill fever	CAT CHI3L1 CYP2E1 HPGDS KLRK1 MSLN SFTPD	10232 1116 1571 22914 27306 6441 847	Homo sapiens (human)
DOID:0080055	achondrogenesis type IB Aliases: achondrogenesis Fraccaro type	DCN SLC26A2	1634 1836	Homo sapiens (human)
DOID:6438	malignant choroid melanoma Aliases: malignant melanoma of choroid melanoma of the Choroid	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0080258	autosomal recessive congenital ichthyosis 14	SULT2B1	6820	Homo sapiens (human)
DOID:0060574	von Willebrand's disease 2 Aliases: VWD type 2 VWD2 von Willebrand disease type 2 von Willebrand disease type II	ACADVL HADHA OTOA	146183 3030 37	Homo sapiens (human)
DOID:10881	hand, foot and mouth disease Aliases: Vesicular stomatitis and exanthem	CERS1	10715	Homo sapiens (human)
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	ACACA ACHE ALDH2 B4GAT1 CD38 CHKB CNTN1 FKRP FKTN GBE1 HACD1 HK1 LARGE1 MTM1 MTMR14 POMGNT1 POMT1 PRKAA2	10585 11041 1120 1272 217 2218 2632 3098 31 43 4534 55624 5563 64419 79147 9200 9215 952	Homo sapiens (human)
DOID:1580	diffuse scleroderma Aliases: diffuse systemic sclerosis systemic sclerosis, diffuse	ADIPOQ CAT HEXA PTEN TLR2	3073 5728 7097 847 9370	Homo sapiens (human)
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)
DOID:12712	nephronophthisis Aliases: medullary cystic disease medullary cystic kidney	ACE AGXT ALDH3A2 LGALS1 MLYCD UMOD	1636 189 224 23417 3956 7369	Homo sapiens (human)

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