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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 **5476 - 5500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0110556	autosomal dominant nonsyndromic deafness 27 Aliases: DFNA27 autosomal dominant deafness 27	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:9884	muscular dystrophy	ACAN ACE ACHE ACOT7 ACSL4 AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD38 CD44 CHKA CHKB COL6A1 CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN G6PD GAA GK GLB1 GMPPB GNE GPC1 GPX3 HACD1 HJV HPGDS HPRT1 HSPG2 IDH2 IGF2R IL1RL1 IMPA1 INPP5B INPP5K KL LARGE1 LARGE2 LGALS1 LGALS3 LIPG MBL2 MGAM MRC1 PARP1 PIK3C2A PKD1 PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SDC3 SI SIRT2 SLC3A1 ST3GAL4 ST8SIA4 SYNJ1 SYNJ2 TM7SF2 TNF VCAM1 VCAN XYLT1	10020 10329 10585 11041 1119 1120 11332 120071 124872 1291 142 1462 148738 148789 1497 1605 1634 1636 176 178 1800 2023 2182 2218 22933 239 250 2539 2548 26033 2710 2720 27306 2817 2878 29925 29954 3251 3339 3418 3482 353 3612 3633 3956 3958 4153 43 4360 501 51763 5286 5310 5373 54344 5553 55624 5563 55750 56983 5837 6383 64131 6476 6484 6519 7108 7124 729920 7412 7903 79147 84197 84892 8813 8818 8867 8871 8972 9104 9173 9200 9215 9365 9388 952 960 9672	Homo sapiens (human)
DOID:0080000	muscular disease	ACACA ACACB CPT2 FASN LPL	1376 2194 31 32 4023	Homo sapiens (human)
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	ALG12 ALG13 ALG3 ALG8 COG6 COG8 DPAGT1 EXT2 ICAM1 MPI PMM2 RFT1 SLC35A2 ST3GAL5 TMEM199	10195 147007 1798 2132 3383 4351 5373 57511 7355 79053 79087 79868 84342 8869 91869	Homo sapiens (human)
DOID:1407	anterior uveitis	LACC1 TLR2 TLR4 TNF	144811 7097 7099 7124	Homo sapiens (human)
DOID:0111673	Saul-Wilson syndrome Aliases: SWILS microcephalic osteodysplastic dysplasia, Saul-Wilson type	COG4	856220	Saccharomyces cerevisiae S288C
DOID:0110196	Charcot-Marie-Tooth disease type 4G Aliases: CMT4G Charcot-Marie-Tooth neuropathy type 4G HMSNR autosomal recessive Charcot-Marie-Tooth disease type 4G hereditary motor and sensory neuropathy Russe type	Hk1	25058	Rattus norvegicus (Norway rat)
DOID:0050816	urofacial syndrome Aliases: Ochoa syndrome hydronephrosis with peculiar facial expression	HPSE2 HPSE	10855 60495	Homo sapiens (human)
DOID:10534	stomach cancer Aliases: gastric cancer gastric neoplasm	Akr1b1 Fut11 Idh2 Mutyh Parp1 Pcna Pik3ca Rgn Tp53	170841 170911 24192 24842 25106 25591 25737 286971 361596	Rattus norvegicus (Norway rat)
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	MYORG	57462	Homo sapiens (human)
DOID:13641	exfoliation syndrome Aliases: Pseudoexfoliation glaucoma Pseudoexfoliation syndrome	CHI3L1 DPM2 GGT1 HPGDS PTEN PTGS2 TLR4	1116 2678 27306 5728 5743 7099 8818	Homo sapiens (human)
DOID:526	human immunodeficiency virus infectious disease Aliases: HIV infection	Lepr Tnf	16847 21926	Mus musculus (house mouse)
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
DOID:0112223	developmental and epileptic encephalopathy 89 Aliases: DEE89 early infantile epileptic encephalopathy 89	GAD1	2571	Homo sapiens (human)
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	ABO ACACA ACACB ACE ACSL1 AGPAT2 AKR1B1 ALG1 ALOX12 ALOX15 ALOX5 ALPL ANXA5 APRT ARSA ART1 ATP6AP2 C1GALT1 C1GALT1C1 CALR CAT CD38 CD44 CD48 CD74 CDH13 CEL CHI3L1 CHIT1 CLC CNTN3 COLEC11 CTNS CYP11A1 CYP19A1 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2J2 CYP3A5 DCN DDOST DGKE DLST ELOVL5 ENO1 ENO2 ENPP1 EPHX2 FADS2 FAR2 FCGR3B FCN2 FH FMOD G6PC1 G6PD GAD1 GAD2 GALNS GAPDH GAS1 GBA3 GCK GFPT1 GLA GLO1 GPNMB GPX3 HAS2 HAS3 HEXB HPRT1 HPSE HSD11B2 HSPG2 ICAM1 IL1R1 INPP5D INPP5E KAT2A KAT2B KHK KL KLB LAYN LCAT LCT LCTL LGALS1 LGALS3 LGALS9 LIPC LTC4S LYZ MASP1 MASP2 MBL2 MDH2 MLYCD NAGLU NAMPT NCAM1 NDST1 NEIL3 NEU1 OGA OGG1 PAFAH1B1 PARP1 PC PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PLA2G1B PLA2G2A PLA2R1 PLAUR PLB1 PRKAA2 PTEN PTGDS PTGES PTGS1 PTGS2 RENBP RGN SACM1L SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELL SELP SFTPD SGPL1 SIGLEC1 SIGLEC7 SIRT6 SLC17A5 SLC2A2 SLC33A1 SLC37A4 SLC5A1 SMPDL3B SMUG1 SOAT1 SORD SPHK1 ST8SIA4 STS SULT1E1 TBXAS1 TM7SF2 TNF TREH UGCG UGT1A1 UGT1A9 UGT2B17 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	1012 10135 10159 10457 10555 1056 10724 10747 10855 1116 1118 11181 1178 142 143903 1462 1497 151056 152831 1555 1557 1558 1559 1571 1573 1577 1583 1588 1591 1594 1634 1636 1650 1743 197021 2023 2026 2053 2180 2215 2220 2271 22908 22925 231 2331 23417 23583 239 240 246 249 2538 2539 2542 2571 2572 2588 2597 2619 2645 2648 26503 2673 27036 2717 27293 2739 28 2878 29071 3037 3038 3074 308 31 32 3251 3291 3339 3340 3383 353 3554 3635 3795 3931 3938 3956 3958 3965 3990 4056 4069 410 412 4153 417 4191 4669 4684 4758 4968 5048 5067 5091 51548 5167 5290 5291 5293 5294 5310 5311 5319 5320 5329 54600 54658 55247 5563 55711 56052 5648 56623 56913 5728 5730 5742 5743 57733 5973 60481 6319 6382 6383 6385 6389 6390 6391 6392 6401 6402 6403 64131 64132 6441 6514 6523 6614 6646 6652 6783 6916 7108 7124 7357 7367 7369 7412 78989 7903 79679 811 847 8526 8850 8877 8879 9104 9197 9365 9415 952 9536 960 962 972	Homo sapiens (human)
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	Axn Calr	41166 43565	Drosophila melanogaster (fruit fly)
DOID:10320	asbestosis	ACAN ACE CAT CD44 CHI3L1 CPM CYP2E1 GAD1 GGT1 HPGDS HS3ST6 IL18R1 KLRK1 MBL2 MSLN OGG1 PTEN PTGS2 SDC2 SELE SELL SFTPD TM7SF2 UGT8	10232 1116 1368 1571 1636 176 22914 2571 2678 27306 4153 4968 5728 5743 6383 6401 6402 6441 64711 7108 7368 847 8809 960	Homo sapiens (human)
DOID:576	proteinuria	Lepr Mgat5	24536 65271	Rattus norvegicus (Norway rat)
DOID:0080158	herpes simplex virus keratitis Aliases: dendritic keratitis	PIK3CA PIK3CB PIK3CD PIK3CG SFTPD TLR4	5290 5291 5293 5294 6441 7099	Homo sapiens (human)
DOID:5379	hemoglobin E disease Aliases: Hb-E disease	ABO FUT1 G6PD NT5E SCD UGT1A1	2523 2539 28 4907 54658 6319	Homo sapiens (human)
DOID:0080855	Parkinsonism	enol-1 gba-3 gba-4	174423 177314 178535	Caenorhabditis elegans
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	ACE ACSS2 ASAH2 CD44 CHPT1 CHST14 CYP2C19 CYP2E1 DCN DHDDS DSEL ECI1 FREM1 FUT3 GPC3 GPI HTR2A ICAM1 IGF2 IGF2R LFNG NDST1 PGAP3 PIGN PIGW PLA2G15 PMM2 SDHA SFTPA1 SFTPA2 SFTPC SFTPD SLC2A10 SMC3 TM7SF2 TNF VCAM1	113189 1557 1571 158326 1632 1634 1636 23556 23659 2525 2719 2821 284098 3340 3356 3383 3481 3482 3955 5373 55902 56624 56994 6389 6440 6441 653509 7108 7124 729238 7412 79947 81031 9126 92126 93210 960	Homo sapiens (human)
DOID:0111387	familial isolated hypoparathyroidism Aliases: FIH	AGA	175	Homo sapiens (human)
DOID:0111027	hemochromatosis type 2A Aliases: HFE2A	HJV RGMA RGMB	148738 285704 56963	Homo sapiens (human)
DOID:9544	refractory plasma cell neoplasm	CD38 CEACAM6 KLRK1 SDC1 SMUG1	22914 23583 4680 6382 952	Homo sapiens (human)

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