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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 **2951 - 2975** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0110183	Charcot-Marie-Tooth disease type 4C Aliases: CMT4C Charcot-Marie-Tooth neuropathy type 4C autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C	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:5439	papillary hidradenoma	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:0080570	congenital disorder of glycosylation It Aliases: congenital disorder of glycosylation 1t	PGM1	5236	Homo sapiens (human)
DOID:0060291	oculodentodigital dysplasia Aliases: ODD syndrome	CYP1B1	1545	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:11077	brucellosis Aliases: Maltese fever undulant fever	CD14 GLA IL18R1 MDH2 MICA SELE SELL SOAT1	100507436 2717 4191 6401 6402 6646 8809 929	Homo sapiens (human)
DOID:10021	duodenum cancer Aliases: Duodenal cancer cancer of duodenum duodenal neoplasm	ACACA ACE ACO1 APRT CAT CHGA CNTN4 COMT CS CYP1A2 DGCR2 DHRS11 DLST FH G6PD GUSB HPSE HSD17B7 IDH1 IDH2 L1CAM LGALS3 MDH2 MRC1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PTEN PTGS2 SDHA SDHB SDHC SDHD SMPD1 SMUG1 SORD UGT1A1	10855 1113 1312 142 1431 152330 1544 1636 1743 2271 23583 2539 2990 31 3417 3418 353 3897 3958 4191 4360 48 51478 5290 5291 5293 5294 5311 54658 5728 5743 6389 6390 6391 6392 6609 6652 79154 847 9993	Homo sapiens (human)
DOID:0090024	split hand-foot malformation 1 with sensorineural hearing loss Aliases: SHFM1D congenital deafness with split hands and feet	ENOSF1 IL18R1 OGG1 PIK3CA	4968 5290 55556 8809	Homo sapiens (human)
DOID:1312	focal segmental glomerulosclerosis Aliases: FGS FSGS focal glomerular sclerosis focal glomerulosclerosis	ACACA ACE ALG13 CD44 CMAS CYP11B2 G6PC1 HPSE IL1R1 LIPC LPL MLYCD NAGLU PKD1 PKD2 PLA2G1B PLA2R1 PLB1 PLCE1 PLCG1 SELP SGPL1 SLC37A4 SMPDL3B VCAN	10855 1462 151056 1585 1636 22925 23417 2538 2542 27293 31 3554 3990 4023 4669 51196 5310 5311 5319 5335 55907 6403 79868 8879 960	Homo sapiens (human)
DOID:0110231	cataract 1 multiple types Aliases: CTRCT1 Duffy linked cataract cataract 1, multiple types, with or without microcornea	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:0050564	autosomal dominant nonsyndromic deafness Aliases: autosomal dominant deafness	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PI4KB PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5298 5660 7007	Homo sapiens (human)
DOID:0110520	autosomal recessive nonsyndromic deafness 7 Aliases: DFNB11 DFNB7 autosomal recessive deafness 7	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:12388	neurohypophyseal diabetes insipidus Aliases: Pituitary diabetes insipidus Vasopressin deficiency vasopressin defective diabetes insipidus	ACOT8 ACSS2 ATP6AP2 CRYL1 CYP2E1 GLA GLB1 H6PD HAS2 MBL2 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 PRPS1 PTEN	10005 10159 1571 23659 2717 2720 3037 4153 4952 51084 5290 5291 5293 5294 55902 5631 5728 9563	Homo sapiens (human)
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:0080599	Coronavirus infectious disease	ACE CD209 MBL2 SFTPD	1636 30835 4153 6441	Homo sapiens (human)
DOID:10554	meningoencephalitis	ACE ARSA B3GAT1 CAT CD55 COMT CYP7B1 DEGS1 ENO2 FUCA1 GPX1 HADHB IGF2R MAG NGLY1 PMM2 PNP PNPLA6 PRNP PRPS1 PSAP RPIA SCP2 TKT	10908 1312 1604 1636 2026 22934 2517 27087 2876 3032 3482 4099 410 4860 5373 55768 5621 5631 5660 6342 7086 847 8560 9420	Homo sapiens (human)
DOID:14557	primary pulmonary hypertension Aliases: Idiopathic pulmonary arterial hypertension	ACE ACHE ACOT7 AGPAT2 ALDH2 ALDH7A1 ALOX5 ANXA5 APRT ARSA CD14 CD177 CHI3L1 CHPT1 CHST13 CHST3 COG1 CPT1A CPT2 CS CYP19A1 CYP1A1 CYP1B1 CYP2C9 DCN EFNA1 ENO1 EOGT EPHX2 FIG4 G6PC3 G6PD GBA1 GLB1 GPI HAS1 HAS2 HAS3 HK1 HPGDS HSPG2 HYAL1 HYAL2 ICAM1 IDUA IL18R1 IMPA1 KL LGALS1 LGALS3 LIPA MCAT MRC1 NAAA NAMPT PARP1 PCYT1A PDIA3 PFKFB3 PIGA PIGN PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G7 PLCD4 PRKAA2 PTEN PTGIS PTGS1 PTGS2 SELP SFTPA2 SFTPC SLC2A4 SLC37A4 SLC3A1 SMPD3 SPHK1 SULT1E1 TM7SF2 VCAM1	10135 10555 1116 11332 1374 1376 142 1431 1543 1545 1559 1588 1634 1636 166012 1942 2023 2053 217 23556 240 2539 2542 2629 27163 2720 27306 27349 2821 285203 2923 3036 3037 3038 308 3098 3339 3373 3383 3425 353 3612 3956 3958 3988 410 43 4360 501 5130 5209 5277 5289 5290 5291 5293 5294 5315 5321 55512 5563 56994 57126 5728 5740 5742 5743 6403 6440 6517 6519 6783 7108 729238 7412 7941 84812 8692 8809 8877 92579 929 9365 9382 9469 9896	Homo sapiens (human)
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	ACE CHIT1 GBA1	1118 1636 2629	Homo sapiens (human)
DOID:14221	abdominal obesity-metabolic syndrome 1 Aliases: dysmetabolic syndrome X metabolic syndrome X	ACACA ACACB ACADVL ACE ACHE ACOX1 ACSL1 ACSL4 ACSM1 ACSM3 AGA AKR1B1 AKR1C3 ALDH2 ALDOA ALOX5 APRT ARSA ARSB ATP6AP2 CALR CANX CAT CD14 CD38 CDH13 CHGA CLEC16A CNTN2 CNTN3 COLEC12 COMT CPT1A CPT2 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP24A1 CYP2C19 CYP2R1 CYP3A4 CYP3A5 CYP46A1 CYP4F2 DAG1 ENO2 ENPP1 EPHX2 FADS1 FADS2 G6PC2 G6PD GALNT2 GBA1 GCK GCNT2 GGT1 GNPDA2 GPI GPX1 GPX3 GYS1 H6PD HADH HPGDS HSD11B1 HSD11B2 HSPG2 ICAM1 IGF2R INPPL1 KL LCAT LCT LEP LGALS2 LGALS3 LIPA LIPC LIPG LPIN1 LPL LTA4H LTC4S LYZ MBOAT7 MCAT MGLL MRC1 MTM1 NAAA NAMPT NANS NEIL1 OGA OGG1 OLR1 PARP1 PC PCK1 PCK2 PCYT1A PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLCB1 PLCB4 PLCG1 PLD2 PNPLA2 PNPLA3 PRKAA2 PTEN PTGDS PTGES2 PTGS2 RENBP SCD SDC3 SELE SELP SIRT2 SLC17A5 SLC27A5 SLC2A2 SLC2A4 SLC2A5 SLC33A1 SLC35A2 SLC35D3 SLC3A1 SLC5A1 SRD5A2 ST3GAL4 STS SULT1E1 TM7SF2 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UMOD VCAM1	1012 10135 10159 10724 10858 10998 1113 11343 116285 120227 1312 132789 1374 1376 142 1557 1576 1577 1585 1586 1588 1589 1591 1605 1636 175 2026 2053 217 2180 2182 226 22933 231 23175 23236 23274 240 2539 2590 2629 2645 26503 2651 2678 27163 27306 27349 2821 2876 2878 2997 3033 31 32 3290 3291 3339 3383 340146 3482 353 3636 37 3931 3938 3952 3957 3958 3988 3990 3992 4023 4048 4056 4069 410 411 412 43 4360 4534 4968 4973 5067 5091 51 5105 5106 5130 5160 5167 5290 5291 5293 5294 5310 5315 5320 5321 5332 5335 5338 54187 54575 54576 54577 54578 54579 54600 54657 54658 54659 5563 56886 57104 5728 5730 5743 57818 5973 6296 6319 6401 6403 6484 6514 6517 6518 6519 6523 6716 6783 6900 7108 7355 7369 7412 79143 7941 79661 80142 80339 81035 811 821 8398 847 8529 8644 9197 929 9365 9388 9415 952 9563 9672	Homo sapiens (human)
DOID:4772	obsolete mesoblastic nephroma	GPC3	2719	Homo sapiens (human)
DOID:0110798	hereditary spastic paraplegia 46 Aliases: SPG46 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46	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:0090117	thiamine-responsive megaloblastic anemia syndrome Aliases: Rogers syndrome THMD1 TRMA thiamine metabolism dysfunction syndrome 1 thiamine-responsive anaemia syndrome thiamine-responsive anemia syndrome thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive myelodysplasia	TKT	7086	Homo sapiens (human)
DOID:0112349	hereditary spastic paraplegia 81 Aliases: SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive	SELENOI	85465	Homo sapiens (human)
DOID:14524	senile degeneration of brain Aliases: Senile brain degen.	ACSM3 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST3 CNTN5 CNTN6 COMT CRPPA DAG1 DHCR24 EBP EOGT FIG4 FKRP FKTN GALC GBA1 GLDC GMPPB GPC3 GUSB IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 NT5E OGDH PAFAH1B1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SUMF1 UGCG	10329 10585 10682 11041 1312 145173 148789 1605 1718 2218 2581 26229 2629 26503 2719 27255 2731 285203 285362 2990 29925 29954 3423 3425 3897 411 4534 4907 4967 5048 5160 5290 5291 5293 5294 53942 55624 56623 5728 6296 6440 6441 653509 729238 729920 7357 79143 79147 84197 84892 9215 9469 9791 9896	Homo sapiens (human)
DOID:0110478	autosomal recessive nonsyndromic deafness 20 Aliases: DFNB20 autosomal recessive deafness 20	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)

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