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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 **4276 - 4300** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:381	arthropathy Aliases: Ankylosis of joint of ankle and/or foot Ankylosis of joint of forearm Ankylosis of joint of hand Ankylosis of joint of lower leg Ankylosis of joint of upper arm Ankylosis of multiple joints Infectious arthropathy Joint ankylosis of the ankle and foot Joint ankylosis of the ankle and/or foot Joint ankylosis of the forearm Joint ankylosis of the hand Joint ankylosis of the lower leg Joint ankylosis of the pelvic region and thigh Joint ankylosis of the shoulder region Joint ankylosis of the upper arm ankylosis of ankle and foot joint ankylosis of forearm joint ankylosis of hand joint ankylosis of joint of multiple sites ankylosis of joint of pelvic region and thigh ankylosis of joint of shoulder region ankylosis of lower leg joint ankylosis of upper arm joint	ABAT ABO ACAA2 ACACA ACAN ACE ACLY ACO1 ACSL4 ACSL6 ACSS2 AGA AKR1C1 AKR1C2 ALDOA ALOX15 ALOX5 ALPL ANXA5 APRT ARSA ART1 ASAH1 B3GAT1 B4GALNT3 B4GALT7 BCKDHA BST2 CALR CAT CD14 CD209 CD22 CD248 CD38 CD44 CD55 CD74 CEMIP CH25H CHAT CHGA CHI3L1 CHI3L2 CHST11 CHST13 CHST14 CHST3 CHST4 CLC CLEC12A CLEC3A CLEC4E CLEC5A CLEC7A CNTN1 CNTN2 COG5 COL9A2 COMT CPT2 CSPG4 CYP19A1 CYP1B1 CYP2B6 CYP7B1 DCN DCXR DHCR24 DPEP1 ENO1 ENPP1 ENPP2 EXT1 EXT2 FASN FCGR3B FCN1 FH FMOD FUT1 FUT2 FUT4 GAL3ST1 GANAB GAPDH GBA1 GCK GGT1 GLA GLB1 GLO1 GLT8D1 GMDS GPC3 GPD1L GPI GPNMB GPX1 GUSB GYS1 HADHA HAS1 HIBCH HJV HK1 HK2 HMMR HPGDS HPRT1 HPSE HS6ST2 HSD11B1 HSD11B2 HYAL1 HYAL2 ICAM1 IDH2 IDH3A IL18R1 IL1R1 IL1RL2 INPP5D ISYNA1 KL KLRB1 LACC1 LAYN LCTL LGALS1 LGALS3 LGALS8 LGALS9 LYZ MASP1 MBL2 MMP17 MMP25 MRC1 MUTYH NAAA NAMPT NCAM1 NT5E OCRL OLR1 OPCML PAPSS2 PARP1 PDHA1 PDIA3 PFKFB3 PGAM1 PIGQ PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G4F PLA2G6 PLAUR PLB1 PLCD1 PLCG1 PLD1 PNPLA3 PRKAA2 PRNP PTEN PTGDS PTGES PTGS1 PTGS2 RECK RENBP SCD5 SDC1 SDC4 SDHA SELE SELL SFTPD SGSH SHMT2 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC26A2 SLC35A1 SLC39A8 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST3GAL5 STS SULF1 SULF2 TKTL1 TM7SF2 TNKS TPI1 UST VCAM1 VCAN VTCN1 XYLT1	10090 10135 10143 10164 10449 10457 10466 10559 10855 1103 1113 1116 1117 11285 113189 1178 1272 1298 1312 1376 142 143903 144811 1462 1464 148738 151056 1545 1555 1588 160364 1604 1634 1636 1645 1646 166012 1718 175 176 18 1800 1836 197021 2023 2131 2132 2182 2194 2215 2219 226 2271 22933 23171 23193 23213 23305 2331 23583 23601 23659 240 246 249 2523 2524 2526 255189 2597 26253 26275 2629 2645 26503 2678 27036 27087 27163 2717 27180 2719 2720 27306 2739 2762 28 2821 283358 2876 2923 2990 2997 3030 3036 308 30835 3098 3099 31 3161 3251 3290 3291 3373 3383 3418 3419 353 3554 3635 3820 3956 3958 3964 3965 4069 410 412 4153 417 427 4326 4360 4595 4684 47 48 4907 4952 4973 4978 50515 51181 51477 51548 5160 5167 5168 5209 5223 5290 5291 5293 5294 5315 5319 5320 5321 5329 5333 5335 5337 5552 5563 55830 55902 55959 5621 5648 56848 57124 57214 5728 5730 5742 5743 593 5973 6382 6385 6389 6401 6402 64116 64131 64386 6441 6448 64581 6472 6646 684 6900 7108 7167 7412 79679 79966 80339 811 8277 8398 8399 8434 847 8658 8692 8808 8809 8869 8877 90161 9023 9060 9091 929 933 9365 9420 9469 9514 952 9536 960 972	Homo sapiens (human)
DOID:13909	red-green color blindness Aliases: Deutan defect Deuteranopia Reduced red-green discrimination	ACE ACO2 ARSA CA4 CACNA2D4 CEL CHAT ELOVL4 FCGR3B G6PD GLDC HS6ST1 IL18R1 MBD4 NYX PARP9 PCYT1A SDHC SLC27A5 STS	1056 10998 1103 1636 2215 2539 2731 410 412 50 5130 60506 6391 6785 762 83666 8809 8930 93589 9394	Homo sapiens (human)
DOID:0070255	congenital disorder of glycosylation type IIc Aliases: CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome	DHCR7 DLD FUT4 GMDS SLC35C1	1717 1738 2526 2762 55343	Homo sapiens (human)
DOID:0110287	autosomal recessive limb-girdle muscular dystrophy type 2S Aliases: LGMD2S muscular dystrophy, limb-girdle, type 2S	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
DOID:14773	cartilage-hair hypoplasia Aliases: CHH McKusick type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type	CAT CYP3A4 EBP HS6ST1 KLB	10682 152831 1576 847 9394	Homo sapiens (human)
DOID:2749	glycogen storage disease Ia	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT ARSA CYP4F3 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALT GBE1 GLA GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PYGL PYGM SI SLC2A2 SLC2A4 SLC35A2 SLC37A4 SLC3A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2717 27306 28 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 410 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 57818 5836 5837 6476 6514 6517 6519 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 9526	Homo sapiens (human)
DOID:0070258	congenital disorder of glycosylation type IIf Aliases: CDG IIf CDG2F CDGIIdf CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf SLC35A1-CDG	SLC35A1	10559	Homo sapiens (human)
DOID:170	endocrine gland cancer Aliases: Endocrine tumor endocrine neoplasm malignant Endocrine tumor malignant neoplasm of endocrine gland malignant tumour of endocrine gland neoplasm of endocrine gland neoplasm of endocrine system	CHGA PTEN SDHB SDHC	1113 5728 6390 6391	Homo sapiens (human)
DOID:0081267	graft-versus-host disease Aliases: GvHD graft versus host disease	ABO ADIPOQ SELL TP53	28 6402 7157 9370	Homo sapiens (human)
DOID:0080476	peroxisome biogenesis disorder 1A Aliases: peroxisome biogenesis disorder 1A (Zellweger)	ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1	2819 3295 5048 51478 8309 8443 847 8540	Homo sapiens (human)
DOID:0110249	cataract 11 multiple types Aliases: CTRCT11	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)
DOID:4138	bile duct disease Aliases: bile duct disorder disorder of bile duct	ENPP1	5167	Homo sapiens (human)
DOID:0060790	hypomyelinating leukodystrophy 3 Aliases: HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	GBA1	2629	Homo sapiens (human)
DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B Aliases: LGMD2B LGMD3 limb-girdle muscular dystrophy due to dysferlin deficiency limb-girdle muscular dystrophy type 3	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP ANXA5 APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 308 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)
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)
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	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:0060611	abdominal obesity-metabolic syndrome	LEP NEIL1 PPARGC1A	10891 3952 79661	Homo sapiens (human)
DOID:0060742	methylmalonic acidemia cblA type Aliases: methylmalonic aciduria cblA type methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type	MMUT	4594	Homo sapiens (human)
DOID:9534	tuberculous pneumothorax	ACACA ACE ACOT7 ALOX5 CD14 CD209 CD44 CDH13 CEL CLEC4E CYP2E1 ENO2 FCGR3B FCN2 GUSB HSD11B1 ICAM1 IL1R1 LTA4H LYZ MASP1 MBL2 MRC1 NTM PARP9 SELE SELL SFTPA1 SFTPA2 SIGLEC1 SLC27A5 SLC39A8 SMUG1 SOAT1 TM7SF2	1012 1056 10998 11332 1571 1636 2026 2215 2220 23583 240 26253 2990 30835 31 3290 3383 3554 4048 4069 4153 4360 50863 5648 6401 6402 64116 653509 6614 6646 7108 729238 83666 929 960	Homo sapiens (human)
DOID:14566	disease of cellular proliferation Aliases: cell process disease neoplasm	PLAUR TP53	5329 7157	Homo sapiens (human)
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	DAG1 MTMR4 PNPLA6	10908 1605 9110	Homo sapiens (human)
DOID:5518	penis squamous cell carcinoma Aliases: Epidermoid cell carcinoma of penis	CD109 PIK3CA PIK3CB PIK3CD PIK3CG PTEN	135228 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:1062	Fanconi syndrome Aliases: Congenital Fanconi syndrome De Toni-Fanconi syndrome Fanconi-de Toni syndrome Fanconi-de-Toni syndrome Infantile nephropathic cystinosis Lignac-Fanconi syndrome adult Fanconi Anemia adult Fanconi syndrome deToni Fanconi syndrome	AGPAT2 CTNS CYP51A1 EHHADH GPX3 IGF2R NAGLU OCRL SLC2A2 SLC5A1 VNN1 VNN2	10555 1497 1595 1962 2878 3482 4669 4952 6514 6523 8875 8876	Homo sapiens (human)
DOID:120	female reproductive organ cancer Aliases: female reproductive cancer malignant Gynecologic tumor malignant neoplasm of female genital organ	AMT HPGDS MRC1 PIK3CA UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	27306 275 4360 5290 54575 54576 54577 54578 54657 54658	Homo sapiens (human)
DOID:654	overnutrition	ACHE ECHS1 GPAM LPL MOGAT1 PRKAA2	116255 1892 4023 43 5563 57678	Homo sapiens (human)

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