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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 **2526 - 2550** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0110338	osteogenesis imperfecta type 17 Aliases: OI17 osteogenesis imperfecta type XVII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0110335	osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET
DOID:0110350	osteogenesis imperfecta type 6 Aliases: OI6 osteogenesis imperfecta type VI	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110339	osteogenesis imperfecta type 3 Aliases: OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:8125	osteochondrosis Aliases: Epiphyseal necrosis apophysitis epiphysitis osteochondritis osteochondritis juvenilis	COL9A2	1298	Homo sapiens (human)	DisGeNET DisGeNET
DOID:84	osteochondritis dissecans Aliases: OCD	ACAN COL9A2 COMT TPI1	1298 1312 176 7167	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:0060098	osteoblastoma	APRT CHI3L1	1116 353	Homo sapiens (human)	DisGeNET
DOID:14283	primary hypertrophic osteoarthropathy Aliases: Pachydermoperiostosis of nail Pachydermoperiostosis syndrome	ACSS2 CBR1 PTGS2	55902 5743 873	Homo sapiens (human)	DisGeNET DisGeNET
DOID:8398	osteoarthritis Aliases: Osteoarthrosis and allied disorder degenerative arthritis degenerative joint disease hypertrophic arthritis osteoarthrosis	ABAT ABO ACAA2 ACAN ACE ACLY ACO1 ACSL4 ACSL6 AKR1C1 AKR1C2 ALDOA ALOX15 ALOX5 ALPL ANXA5 APRT ARSA B3GAT1 B4GALNT3 B4GALT7 BAD BST2 CALR CAT CD14 CD38 CD44 CEMIP CH25H CHAT CHGA CHI3L1 CHI3L2 CHIT1 CHST11 CHST13 CHST4 CLC CLEC3A CLEC5A CLEC7A COG5 COL9A2 COLGALT2 COMT CSPG4 CYP19A1 CYP1B1 CYP7B1 DCN DPEP1 ENO1 ENPP1 ERRFI1 EXT1 EXT2 FASN FCGR3B FH FMOD FUT1 FUT2 FUT4 GAL3ST1 GALNT3 GANAB GAPDH GBA1 GCK GGT1 GLA GLB1 GLO1 GLT8D1 GMDS GPC3 GPD1L GPI GPNMB GPX1 HADHA HAS1 HIBCH HK1 HK2 HMMR HPGDS HPRT1 HPSE HS6ST2 HSD11B1 HSPG2 HYAL1 HYAL2 ICAM1 IDH2 IDH3A IGF2 IL18R1 IL1R1 IL1RL2 INPP5D INS ISYNA1 KL KLRB1 LAYN LCTL LEP LGALS1 LGALS3 LGALS8 LGALS9 MMP25 MRC1 MUTYH NAAA NAMPT NCAM1 NT5E OCRL OLR1 OPCML PAPSS2 PARP1 PCYT1A PDHA1 PDIA3 PFKFB3 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2G4A PLA2G4F PLAUR PLB1 PLCD1 PLCG1 PNPLA3 PRKAA2 PRNP PTEN PTGDS PTGES PTGS1 PTGS2 RECK RENBP SCD5 SDC1 SDC4 SDHA SELE SFTPD SGSH SHMT2 SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC35A1 SLC39A8 SMUG1 SOAT1 SPHK1 SPHK2 SRGN STS SULF1 SULF2 TKTL1 TM7SF2 TNFRSF10C TNKS TPI1 UST VCAM1 XYLT1	10090 10135 10143 10164 10449 10457 10466 10559 10855 1103 1113 1116 1117 1118 11285 1178 1298 1312 142 143903 1464 151056 1545 1588 1634 1636 1645 1646 166012 176 18 1800 1836 197021 2023 2131 2132 2182 2194 2215 226 2271 22933 23127 23171 23193 23213 23305 2331 23583 23601 240 246 249 2523 2524 2526 255189 2591 2597 26275 2629 2645 26503 2678 27036 27087 27163 2717 2719 2720 27306 2739 2762 28 2821 283358 2876 2923 3030 3036 308 3098 3099 3161 3251 3290 3339 3373 3383 3418 3419 3481 353 3554 3630 3635 3820 3952 3956 3958 3964 3965 410 412 4360 4595 4684 47 48 4907 4952 4973 4978 50515 5130 51477 51548 5160 5167 5209 5223 5290 5291 5293 5294 5315 5319 5321 5329 5333 5335 54206 5552 5563 55830 55959 5621 56848 572 57214 5728 5730 5742 5743 5973 6382 6385 6389 6401 64116 64131 64386 6441 6448 64581 6472 6646 684 7108 7167 7412 79966 80339 811 8277 8434 847 8658 8692 8794 8808 8809 8877 90161 9023 9060 929 9365 9420 9514 952 9536 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:5408	Paget's disease of bone Aliases: Paget disease of bone Paget's bone disease osseous Paget's disease osteitis deformans	CEACAM5 GNE IL1R1 INPP5D NEU1 PIGN	10020 1048 23556 3554 3635 4758	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3342	bone inflammation disease Aliases: Inflammatory disorder of bone bone inflammatory disease osteitis	CALR MBL2	4153 811	Homo sapiens (human)	DisGeNET
DOID:7489	Osgood-Schlatter's disease Aliases: Osgood-Schlatter disease Osteochondritis of tibial tubercle Osteochondrosis of proximal tibia juvenile osteochondrosis of tibial tubercle	COL9A2	1298	Homo sapiens (human)	DisGeNET DisGeNET
DOID:4501	orofaciodigital syndrome Aliases: oral-facial-digital syndrome	GYS2	2998	Homo sapiens (human)	DisGeNET
DOID:0060232	branchiootic syndrome Aliases: BO syndrome BOR branchiootic dysplasia	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110719	Warburg micro syndrome 4 Aliases: Micro Syndrome 4 WARBM4	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110717	Warburg micro syndrome 2 Aliases: Micro Syndrome 2 WARBM2	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110716	Warburg micro syndrome 1 Aliases: Micro Syndrome 1 WARBM1	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110718	Warburg micro syndrome 3 Aliases: Micro Syndrome 3 WARBM3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060359	Sakati-Nyhan syndrome Aliases: ACPS with leg hypoplasia Sakati syndrome Sakati-Nyhan-Tisdale syndrome acrocephalopolysyndactyly Type III acrocephalopolysyndactyly type 3	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060229	Baraitser-Winter syndrome	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:13501	Moebius syndrome Aliases: Mobius syndrome Moebius congenital oculofacial paralysis Oromandibular-limb hypogenesis spectrum	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060316	orofaciodigital syndrome I Aliases: Papillon-Leage-Psaume syndrome orofaciodigital syndrome 1 orofaciodigital syndrome type I	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060380	orofaciodigital syndrome X Aliases: OFD10 orofaciodigital syndrome with fibular aplasia	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E PLCD3 SLC26A2	1109 113026 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET

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