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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **1726 - 1750** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0110208	Charcot-Marie-Tooth disease X-linked recessive 2 Aliases: CMTX2 Charcot-Marie-Tooth neuropathy X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2	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:1289	neurodegenerative disease Aliases: degenerative disease	ACADM ACE ACHE ACO2 ACOX1 ACSBG1 ADPRS AGPAT3 AKR1A1 ALDH2 ALOX12 ALOX5 ALPP ARSA ASAH1 ATP6AP2 ATRNL1 B3GAT1 CAT CCDC115 CD14 CD33 CD38 CHAT CHGA CHI3L1 CHIT1 CLEC10A CLEC16A CLN5 CNTN2 COLEC11 COMT CYP19A1 CYP27A1 CYP2B6 CYP2U1 CYP46A1 CYP7B1 DAG1 DEGS1 DEGS2 DHCR24 DLST ELOVL4 ENO2 EPM2A FCN2 FDPS FIG4 FOLR2 G6PD GAA GAD1 GALC GAPDH GBA1 GDPD5 GLB1 GLO1 GLUL GM2A GPNMB GPX3 GUSB HEXA HEXB HIBCH HK1 HK2 HPGDS HPSE ICAM1 IDH2 INPPL1 KL L2HGDH LGALS3 LIPC LPL MANEAL MGLL MRC1 MTM1 MTMR2 MUTYH MYORG NAGLU NAGPA NAMPT NDUFAB1 OARD1 OGA OGDH OGG1 OGT PARP10 PARP1 PDIA3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G1B PLA2G2A PLA2G4A PLA2G5 PLA2G6 PLB1 PLCG2 PNP PNPLA6 PNPLA7 PPT1 PRKAA2 PRKAG2 PRKAG3 PRNP PTEN PTGES3 PTGES PTGS2 QPRT RENBP RPE SARM1 SCP2 SDHA SFTPA1 SGPL1 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC17A5 SLC33A1 SMUG1 SPHK2 SPTLC1 SPTLC3 STS SUCLA2 SYNJ1 TIGAR TKT TMED9 TPI1 UNG VCAN	10135 10159 10327 10457 10462 10558 10724 10728 10855 10858 10908 1103 1113 1116 1118 11343 113612 1203 123099 1312 142 1462 149175 151056 1555 1588 1593 1605 1636 1718 1743 2026 217 221443 2220 2224 22933 23098 23205 23274 23475 2350 23583 239 240 250 2539 2548 2571 2581 2597 26033 26275 2629 26503 27036 27087 2720 27306 2739 2752 2760 283871 2878 2923 2990 3073 3074 3098 3099 3383 34 3418 3636 375775 3958 3990 4023 410 412 427 43 4360 4534 4595 4669 4706 4860 4967 4968 50 51 51172 51422 51548 5290 5291 5293 5294 5311 5319 5320 5321 5322 5336 53632 54732 54936 55304 5538 5563 5621 56848 56894 57103 5728 5743 57462 5973 6120 6342 6389 6448 6476 653509 6785 6900 7086 7167 7374 78989 7957 79944 81544 8398 84317 847 8473 84875 8560 8803 8867 8879 8898 9197 929 9365 9420 945 952 9536 9896	Homo sapiens (human)
DOID:8632	Kaposi's sarcoma Aliases: Kaposi sarcoma Kaposi's sarcoma of Heart Kaposi's sarcoma of anus Kaposi's sarcoma of central nervous system Kaposi's sarcoma of conjunctiva Kaposi's sarcoma of cornea Kaposi's sarcoma of esophagus Kaposi's sarcoma of gastrointestinal sites Kaposi's sarcoma of lung Kaposi's sarcoma of lymph nodes Kaposi's sarcoma of palate Kaposi's sarcoma of penis Kaposi's sarcoma of skin Kaposi's sarcoma of soft tissue Kaposi's sarcoma of soft tissues Kaposi's sarcoma of the CNS Kaposi's sarcoma of the gallbladder Kaposi's sarcoma of the prostate Kaposi's sarcoma, lung Kaposi's sarcoma, skin anal Kaposi's sarcoma cardiac Kaposi's sarcoma central nervous system Kaposi's sarcoma conjunctival Kaposi's sarcoma corneal Kaposi's sarcoma cutaneous Kaposi's sarcoma esophageal Kaposi's sarcoma gallbladder Kaposi's sarcoma gastric Kaposi's sarcoma intestinal Kaposi's sarcoma lymph node Kaposi's sarcoma lymphadenopathic Kaposi's sarcoma palate Kaposi's sarcoma penis Kaposi's sarcoma prostate Kaposi's sarcoma pulmonary Kaposi's sarcoma soft tissue Kaposi's sarcoma	BCKDHB CD1D CERK DCN IGF2R KLRK1 LGALS1 LGALS3 MLYCD PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTGS2 RENBP SDC1 SELE SEMA7A SIGLEC1 SIRT6 SPHK2 VCAM1	1634 22914 23417 3482 3956 3958 51548 5286 5290 5291 5293 5294 5335 56848 5743 594 5973 6382 6401 64781 6614 7412 8482 912	Homo sapiens (human)
DOID:2411	granular cell tumor Aliases: neoplasm of granular cell	ATP6AP2 FASN PTEN	10159 2194 5728	Homo sapiens (human)
DOID:0080483	peroxisome biogenesis disorder 8A Aliases: peroxisome biogenesis disorder 8A (Zellweger)	CAT G6PD	2539 847	Homo sapiens (human)
DOID:0110508	autosomal recessive nonsyndromic deafness 51 Aliases: DFNB51 autosomal recessive deafness 51	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:11589	Riley-Day syndrome Aliases: HSAN III familial autonomic nervous dysfunction familial dysautonomia	GLA HMGCS2 ICAM1 SPTLC1	10558 2717 3158 3383	Homo sapiens (human)
DOID:0110472	autosomal recessive nonsyndromic deafness 17 Aliases: DFNB17 autosomal recessive deafness 17	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	ABAT CYP27A1	1593 18	Homo sapiens (human)
DOID:529	blepharospasm	AMT ARSG ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS DLAT EPM2A GBA1 GCDH GCSH GLDC GLYCTK HIBCH HMGCL HPRT1 HSPG2 ISYNA1 MECR MMUT NAGA NEU1 NGLY1 PDHA1 PGAP2 PGAP3 PIGA PIGL PIGN PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLB1 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1	10715 1203 132158 151056 1557 1593 1737 22901 23236 23556 26275 2629 2639 2653 2731 27315 275 284098 3155 3251 3339 427 4594 4668 4758 51102 51227 51477 5160 523 5277 5286 5538 55624 55650 55768 5621 5660 6309 6389 6392 6487 6900 7957 79947 8398 84342 84720 84992 8867 8869 9091 91869 93210 9487	Homo sapiens (human)
DOID:3277	thymus cancer Aliases: Thymic tumor neoplasm of thymus thymic neoplasm	LGALS1 PTEN	3956 5728	Homo sapiens (human)
DOID:0060123	connective tissue benign neoplasm Aliases: mesenchymal tissue neoplasm neoplasm of soft tissue neoplasm of soft tissues soft tissue benign neoplasm tumor of the soft tissue	IDH1 IL1R1 NANS OGA SMUG1	10724 23583 3417 3554 54187	Homo sapiens (human)
DOID:10242	ehrlichiosis Aliases: human ehrlichiosis	PSMD10	5716	Homo sapiens (human)
DOID:7763	carcinoma of supraglottis Aliases: Supraglottic carcinoma	PTEN	5728	Homo sapiens (human)
DOID:0110491	autosomal recessive nonsyndromic deafness 32 Aliases: DFNB32 HIIMS autosomal recessive deafness 105 autosomal recessive deafness 32 hearing impairment infertile male syndrome	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:12120	pulmonary alveolar proteinosis	CEACAM5 CEL CHI3L1 CYP27A1 ENO2 PARP9 SFTPA1 SFTPC SFTPD SLC27A5 SOAT1	1048 1056 10998 1116 1593 2026 6440 6441 653509 6646 83666	Homo sapiens (human)
DOID:0110234	cataract 4 multiple types Aliases: CTRCT4 cataract 4 multiple types with or without microcornea	AGK ALDH7A1 CPT1A CRYL1 CYP27A1 GALK1 GCNT2 GPC5 IDH1 INPP5K LGALS1 LSS OCRL PIK3CA PTEN SDHB SDHC SDHD SLC33A1 SORD	1374 1593 2262 2584 2651 3417 3956 4047 4952 501 51084 51763 5290 55750 5728 6390 6391 6392 6652 9197	Homo sapiens (human)
DOID:11161	neonatal respiratory failure Aliases: respiratory failure of newborn	SFTPC	6440	Homo sapiens (human)
DOID:0112198	spondyloepimetaphyseal dysplasia with joint laxity type 1 Aliases: SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	B3GALT6	126792	Homo sapiens (human)
DOID:14265	pulmonary valve insufficiency Aliases: Pulmonic insufficiency Pulmonic valve regurgitation pulmonary incompetence pulmonary incompetence, non-rheumatic pulmonary insufficiency following trauma and surgery pulmonary regurg. pulmonary regurgitation	SFTPA1 SFTPA2 SFTPC	6440 653509 729238	Homo sapiens (human)
DOID:0110790	hereditary spastic paraplegia 39 Aliases: NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation	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)
DOID:10140	dry eye syndrome Aliases: Tear film insufficiency dry eye disease	ACAT1 ACE CHIA CNTN3 ELOVL1 ELOVL4 FAR2 HPGDS ICAM1 LCAT LGALS3 MPI PTGDS PTGS2 RGN SFTPD SOAT1 TLR2 TLR4	1636 27159 27306 3383 38 3931 3958 4351 5067 55711 5730 5743 6441 64834 6646 6785 7097 7099 9104	Homo sapiens (human)
DOID:0110507	autosomal recessive nonsyndromic deafness 5 Aliases: DFNB5 autosomal recessive deafness 5	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:2030	anxiety disorder Aliases: anxiety anxiety state	ABAT ABO ACACA ACE ACHE ACSL4 ADH1B AKR1C1 AKR1C3 ALDH2 ALDH5A1 ALOX15 ALPL AMY1A AMY1B AMY1C ARSA ARSD ARSG ARSI B3GAT1 CAT CHGA CNTN3 COMT CPM CYP17A1 CYP1A1 CYP1A2 CYP2B6 CYP2C19 CYP2E1 CYP3A5 ENO1 FDPS FIG4 GAD1 GAD2 GALNS GLA GLO1 GLT8D1 GM2A GOLPH3 GPNMB HPSE HS6ST1 HSD11B2 HSPG2 INPP5K L1CAM LGALS3 LIPA LYPD6 MANEA MGLL MPI NANS NDST3 NPY1R NT5E OCRL PAFAH1B1 PARP1 PC PCCB PCYT1A PIK3CA PMM2 PRNP PTEN PTGS2 SDHD SIRT6 SLC33A1 SLC35C1 SMC3 SMPD1 SMUG1 SPHK1 SRD5A1 UGT2B15 UMOD	10457 10855 1113 11343 125 130574 1312 1368 142 1543 1544 1555 1557 1571 1577 1586 1636 1645 18 2023 217 2182 2224 22901 23583 246 249 2571 2572 2588 27087 2717 2739 276 2760 277 278 28 31 3291 3339 340075 3897 3958 3988 410 414 43 4351 4886 4907 4952 5048 5067 5091 5096 5130 51548 51763 5290 5373 54187 55343 55830 5621 5728 5743 6392 64083 6609 6715 7366 7369 7915 79694 847 8644 8877 9126 9197 9348 9394 9896	Homo sapiens (human)
DOID:13945	CADASIL Aliases: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy hereditary multi-infarct dementia	CTSA DCN	1634 5476	Homo sapiens (human)

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