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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 **4001 - 4025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110029	alpha thalassemia-intellectual disability syndrome type 1 Aliases: ATR syndrome linked to chromosome 16 ATR syndrome, deletion type ATR-16 syndrome alpha thalassemia-intellectual disability syndrome, deletion type alpha thalassemia-retardation syndrome alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 alpha-thalassemia/mental retardation syndrome, deletion-type alpha-thalassemia/mental retardation syndrome, type 1	COL9A2 G6PD PGD PKD1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 VCAM1	1298 2539 5226 5310 54575 54576 54577 54578 54657 54658 7412	Homo sapiens (human)	DisGeNET
DOID:0060292	X-linked chondrodysplasia punctata 1 Aliases: chondrodystrophia calcificans congenita	AGPS ARSH DHCR24 EBP FDFT1 GNPAT NSDHL STS SUMF1	10682 1718 2222 285362 347527 412 50814 8443 8540	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:11459	pseudotumor cerebri Aliases: benign intracranial hypertension idiopathic intracranial hypertension	ENO2 GLB1 L1CAM PARP4 PIK3CA PTEN SDHB SDHC	143 2026 2720 3897 5290 5728 6390 6391	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1386	abetalipoproteinemia Aliases: familial hypobetalipoproteinemia microsomal triglyceride transfer protein deficiency disease	EFNA5 GPLD1 HADHA HADHB HSD11B1 HSPG2 IL18R1 LCAT LGALS1 LPL PIK3C2A PLA2G10 PLA2G2A PLA2G7 ST8SIA4	1946 2822 3030 3032 3290 3339 3931 3956 4023 5286 5320 7903 7941 8399 8809	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060184	lymphocytic colitis	CHGA PTEN	1113 5728	Homo sapiens (human)	DisGeNET
DOID:5389	oxyphilic adenoma Aliases: Follicular adenoma, oxyphilic cell Oncocytoma	AMACR CD44 FH HMMR HYAL4 LDHA NCAM1 PGK1 PRSS8 PTEN PTGS1 PTGS2 SDHA SDHB SLC2A2 SLC2A4 SMUG1 VCAM1	2271 23553 23583 23600 3161 3939 4684 5230 5652 5728 5742 5743 6389 6390 6514 6517 7412 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:11555	Fuchs' endothelial dystrophy Aliases: FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy	NEIL1 PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294 79661	Homo sapiens (human)	DisGeNET
DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8 Aliases: MDDGA8 Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8	CRPPA POMGNT2	729920 84892	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:2998	testicular cancer Aliases: childhood neoplasm of the testis neoplasm of testis pediatric testicular neoplasm testicular tumor testis cancer testis neoplasm	ACACA ACE ALDH1A3 ALDH7A1 ALOX12 ALOX12B ALOX5 ALPP CD44 CLGN CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP2B6 CYP3A5 CYP3A7 ETNK1 FH GCNT1 GGT1 GPC3 HMMR HPGDS HSD17B4 ICAM1 IL18R1 L1CAM LCT LDHC LGALS3 LY6K MCFD2 MRC1 PCYT1A PGD PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTEN SLC2A5 SMUG1 SPACA3 STS SULF1 SULF2 TKTL1 TP53 UGT1A1	1047 124912 1543 1544 1551 1555 1577 1586 1588 1636 220 2271 23213 23583 239 240 242 250 2650 2678 2719 27306 31 3161 3295 3383 3897 3938 3948 3958 412 4360 501 5130 5226 5290 5291 5293 5294 54658 54742 55500 55959 5716 5728 6518 7157 8277 8809 90411 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12129	bulimia nervosa Aliases: hyperorexia nervosa	ACACA AGPAT2 CALR CHODL COMT EFNA5 HGSNAT MAN1B1 SLC3A1 ST8SIA4	10555 11253 1312 138050 140578 1946 31 6519 7903 811	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:3324	mood disorder Aliases: episodic mood disorder	ABAT ABO ACE CAT CD44 COMT CRYL1 CYP19A1 DGKG DGKH GAD1 GAD2 GLO1 GLUL HPGDS HSD11B2 IMPA2 KL LDHA NCAM1 PAFAH1B1 PDIA3 PFKFB3 PFKL PGD PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLB1 PLCB1 PLCB4 PNPLA3 PRNP PTGS1 PTGS2 SIRT2 SOAT1 ST8SIA2 STS TM7SF2	1312 151056 1588 1608 160851 1636 18 22933 23236 2571 2572 27306 2739 2752 28 2923 3291 3613 3939 412 4684 5048 51084 5209 5211 5226 5236 5290 5291 5293 5294 5321 5332 5621 5742 5743 6646 7108 80339 8128 847 9365 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4697	perineurioma Aliases: soft tissue Perineurioma	ACHE PTEN SMUG1	23583 43 5728	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111531	bilateral optic nerve hypoplasia Aliases: ONH familial bilateral optic nerve hypoplasia isolated optic nerve hypoplasia/aplasia	ALDH1A3 B3GALNT2 CNTN4 CRPPA DHCR7 FKRP FKTN GMPPB LARGE1 POMGNT1 POMK POMT1 POMT2 SRD5A3	10585 148789 152330 1717 220 2218 29925 29954 55624 729920 79147 79644 84197 9215	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	COMT LDHA PIK3CA PIK3CB PIK3CD PIK3CG PTDSS1 PTEN SMUG1 VCAN	1312 1462 23583 3939 5290 5291 5293 5294 5728 9791	Homo sapiens (human)	DisGeNET
DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma Aliases: B-cell lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL	FCER2 SLC35B2	2208 347734	Homo sapiens (human)	DisGeNET
DOID:2739	Gilbert syndrome Aliases: Constitutional hyperbilirubinemia Gilbert's disease Gilbert's syndrome Gilbert-Meulengracht syndrome hereditary nonhemolytic jaundice	ABO AKR1D1 ALDOB AMACR COG6 CYP2B6 ENO2 FH G6PD HK1 HSD3B7 LPL NT5E PGK1 PRKAA2 SELP SLC17A5 SLC35A2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMPS XYLT2	1555 2026 2271 229 23600 2539 26503 28 3098 4023 4907 5230 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 56886 57511 6403 64132 6718 7355 7372 80270	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:1687	neovascular glaucoma Aliases: secondary angle-closure glaucoma with rubeosis	LGALS1 PRNP	3956 5621	Homo sapiens (human)	DisGeNET
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	CALR CEL FCN2 G6PC3 ICAM1 ISYNA1 LGALS9 MBL2 MICA NTM PARP9 PGM3 PIK3CD RGMA SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 TNF	100507436 1056 10998 2220 3383 3965 4153 50863 51477 5238 5293 56963 6440 6441 653509 7124 729238 811 83666 92579	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070133	autosomal recessive cutis laxa type IB Aliases: ARCL1B	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:0050742	nicotine dependence Aliases: tobacco use disorder	ACAN ACE ADH1C ADH7 AKR1A1 AKR1B10 ARSD BDH1 CACNA2D3 CDH13 CHAT COMT CYP21A2 CYP2B6 CYP2E1 CYP3A5 DGKG EFNA5 GALNTL6 GM2A HPGDS HS6ST3 HSD17B3 HTR2A MACROD1 MGAT4C NAAA NCAM1 NPY1R NTM OPCML PCCA PIGC PIK3CB PLA2G4E PLA2G6 PLCB1 PLCB4 PNPLA2 PTEN SLC39A8 XXYLT1	1012 10327 1103 123745 126 131 1312 152002 1555 1571 1577 1589 1608 1636 176 1946 23236 25834 266722 27163 27306 2760 28992 3293 3356 414 442117 4684 4886 4978 50863 5095 5279 5291 5332 55799 57016 57104 5728 622 64116 8398	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080067	Charcot-Marie-Tooth disease type 5 Aliases: hereditary motor and sensory neuropathy with pyramidal features	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)	DisGeNET DisGeNET DisGeNET
DOID:3374	peripheral osteosarcoma Aliases: Surface Osteosarcoma	NANS	54187	Homo sapiens (human)	DisGeNET
DOID:10293	monocular esotropia	AGRN ALG9 B3GAT3 CHAT CHST3 CYB5R3 DDOST GBA1 GMPPB PGAP2 PGAP3 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PMM2 SLC35A2	1103 1650 1727 23556 26229 2629 27315 284098 29925 375790 51604 5373 55650 7355 79796 84720 84992 93210 9469 9487	Homo sapiens (human)	DisGeNET
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	ACE AGL AKR1A1 APRT ARSB ATP6AP2 CALR CPT2 ELOVL4 FCGR3B FUT1 G6PC1 GAA GALC GBE1 GLA GYG1 HPGDS IDS IDUA IGF2R LIPC MAN2B1 MGAM PARP1 PNPLA2 RPE SI SLC17A5 STBD1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10159 10327 1376 142 1636 178 2215 2523 2538 2548 2581 2632 26503 2717 27306 2992 3423 3425 3482 353 3990 411 4125 54575 54576 54577 54578 54579 54600 54657 54658 54659 57104 6120 6476 6785 811 8972 8987	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:12030	panuveitis Aliases: Diffuse uveitis	ACAN ACE AKR1B1 CD14 CYP24A1 CYP27B1 EXTL3 ICAM1 IL1RAP MICA OVGP1 PIK3CA PIK3CB PIK3CG PLA2G15 RPE RTN4R SMUG1 TM7SF2 VCAN VTCN1	100507436 1462 1591 1594 1636 176 2137 231 23583 23659 3383 3556 5016 5290 5291 5294 6120 65078 7108 79679 929	Homo sapiens (human)	DisGeNET

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