GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2001 - 2025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:6536	plasma cell neoplasm Aliases: Plasma cell dyscrasia Plasma cell tumour Plasmacytic tumor	B3GAT1 CD38 CEACAM6 HAS1 LPL MAG NCAM1 PIGA PRSS21 PSAP PTEN SDC1	10942 27087 3036 4023 4099 4680 4684 5277 5660 5728 6382 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:10348	blepharophimosis	ATP6V1A COLEC10 COLEC11 DGCR2 GPC6 HSPG2 MASP1 MOGS PIK3CB SLC2A10	10082 10584 3339 523 5291 5648 7841 78989 81031 9993	Homo sapiens (human)	DisGeNET
DOID:916	liver benign neoplasm Aliases: epithelial hepatic and intrahepatic bile duct neoplasm	ALDOB	229	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:14175	von Hippel-Lindau disease Aliases: Hippel Lindau syndrome von Hippel-Lindau syndrome	ACHE APRT CHGA CYP19A1 CYP1B1 CYP2B6 IDH2 KLRD1 MUTYH PIK3CA PIK3CB PIK3CD PIK3CG PNPLA6 PRKAA2 PTEN PTGS2 PYGM SDHB SDHC SDHD SLC2A3 SMUG1 SORD TUSC3	10908 1113 1545 1555 1588 23583 3418 353 3824 43 4595 5290 5291 5293 5294 5563 5728 5743 5837 6390 6391 6392 6515 6652 7991	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:3316	perivascular tumor Aliases: malignant perivascular cancer	CD44	960	Homo sapiens (human)	DisGeNET
DOID:613	obsolete T lymphocyte deficiency	PNP SFTPA1	4860 653509	Homo sapiens (human)	DisGeNET
DOID:0060263	porencephaly	COLGALT1	79709	Homo sapiens (human)	DisGeNET DisGeNET
DOID:65	connective tissue disease Aliases: connective tissue disorder disorder of connective tissue	ACAN ACE ALDH7A1 ALPL ALPP ATP6V0A2 ATRNL1 B3GALT6 B3GAT1 B4GALT7 CD22 CEACAM5 CHI3L1 COL9A2 CTNS CYP24A1 CYP3A5 DCN ENPP1 EXT1 EXT2 FDPS GLB1 GLO1 GPNMB GPX1 HPRT1 IDUA IL1R1 INPPL1 KL KLRB1 MGLL NT5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLOD3 PNPLA2 SCP2 SDC1 SELE SLC2A10 SOAT1 SPHK2	10457 1048 1116 11285 11343 126792 1298 1497 1577 1591 1634 1636 176 2131 2132 2224 23545 249 250 26033 27087 2720 2739 2876 3251 3425 3554 3636 3820 4907 501 5130 5167 5290 5291 5293 5294 5310 5311 56848 57104 6342 6382 6401 6646 81031 8985 933 9365	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111140	IGSF1 deficiency syndrome Aliases: CHTE X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement central hypothyroidism and testicular enlargement	ACHE ASAH1 B3GLCT EFNA5 ENO2 G6PD	145173 1946 2026 2539 427 43	Homo sapiens (human)	DisGeNET
DOID:3530	chronic wasting disease	PRNP	5621	Homo sapiens (human)	DisGeNET
DOID:10575	calcium metabolism disease	AGXT ALPL ALPP ATRNL1 CD44 CYP24A1 CYP27B1 CYP2R1 ENPP1 GALNT3 GRHPR HOGA1 HSD11B2 KL OCRL PIGT PTGS2 SLC3A1 SLC5A1 STS	112817 120227 1591 1594 189 249 250 2591 26033 3291 412 4952 51604 5167 5743 6519 6523 9365 9380 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	ACE CYP11B1 CYP11B2 CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2 SLC2A10	10020 1544 1573 1584 1585 1636 3423 3958 54187 55556 5728 5743 79158 81031	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:4587	benign meningioma Aliases: meningioma, benign	ALDH1A3 ALOX5 ALPL CD33 CD44 CD55 CYP19A1 CYP1A1 CYP1B1 CYP4F3 DHCR24 ENO2 FASN FCGR3B FOLR1 GAPDH GPX1 HPGDS HPRT1 IL18R1 LARGE1 LGALS1 LGALS3 MMP25 MMUT MSLN MUTYH NT5E NTHL1 OGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G2A PLA2G6 PLA2G7 PLAUR PLB1 PTEN PTGDS PTGS1 PTGS2 SDHB SDHC SDHD SMUG1 SOAT1 STS TIPARP TNKS VCAN	10232 10724 1462 151056 1543 1545 1588 1604 1718 2026 2194 220 2215 2348 23583 240 249 2597 25976 27306 2876 3251 3956 3958 4051 412 4594 4595 4907 4913 5290 5291 5293 5294 5319 5320 5329 5728 5730 5742 5743 6390 6391 6392 64386 6646 7941 8398 8658 8809 9215 945 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:5847	posterior myocardial infarction	DLD	1738	Homo sapiens (human)	DisGeNET
DOID:3596	placental site trophoblastic tumor Aliases: Placental-Site Gestational Trophoblastic neoplasm placental site trophoblastic tumour	GPC3	2719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090038	torsion dystonia 2	ALDH5A1	7915	Homo sapiens (human)	DisGeNET
DOID:0060397	chromosome 15q26-qter deletion syndrome Aliases: 15q26 deletion syndrome Drayer syndrome distal 15q deletion syndrome distal monosomy 15q telomeric 15q deletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)	DisGeNET DisGeNET
DOID:7305	astroblastoma	CD44 IDH1 PIK3CA PTEN	3417 5290 5728 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:6098	thalamic neoplasm Aliases: malignant neoplasm of thalamus malignant tumor of Thalamus tumor of Thalamus	IDH1	3417	Homo sapiens (human)	DisGeNET
DOID:0111630	familial erythrocytosis 8 Aliases: BPGM deficiency DPGM deficiency ECYT8 bisphosphoglycerate mutase deficiency bisphosphoglyceromutase deficiency diphosphoglycerate mutase deficiency of erythrocyte hemolytic anemia due to diphosphoglycerate mutase deficiency	BPGM	669	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050474	Netherton syndrome	ACE GBA1 ICAM1 PTGS2	1636 2629 3383 5743	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060062	familial juvenile hyperuricemic nephropathy	UMOD	7369	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070146	hereditary sensory neuropathy type 4 Aliases: hereditary sensory neuropathy type IV insensitivity to pain, congenital, with anhidrosis	PKLR SPTLC1	10558 5313	Homo sapiens (human)	DisGeNET DisGeNET
DOID:5683	hereditary breast ovarian cancer syndrome Aliases: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer Breast and Ovarian Cancer syndrome HBOC syndrome Hereditary Breast and Ovarian Cancer syndrome Hereditary breast and ovarian cancer	APRT DHRS11 HSD11B2 HSD17B1 HSD17B7 MRC1 PARP1 PTEN	142 3291 3292 353 4360 51478 5728 79154	Homo sapiens (human)	DisGeNET

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