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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 **6776 - 6800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:14701	propionic acidemia Aliases: GLYCINEMIA, KETOTIC KETOTIC HYPERGLYCINEMIA ketotic II glycinemia ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency	GPX3 MMUT OGG1 PCCA PCCB	2878 4594 4968 5095 5096	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080382	nephrotic syndrome type 3 Aliases: early onset nephrotic syndrome type 3	PLCE1	51196	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060309	syndromic X-linked intellectual disability Aliases: syndromic X-linked mental retardation	ATP6AP2	10159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060322	mastoiditis	NT5E TLR2 TLR4	4907 7097 7099	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:12889	Miller Fisher syndrome Aliases: Fisher's syndrome Miller-Fisher variant of Guillain-Barre syndrome	CNTN1 CSGALNACT1 ENO2 FCGR3B GALE GLO1 HPRT1 ICAM1 ISYNA1 MBL2 MRC1 PLB1 PTGS1 PTGS2 SIGLEC7 SIGLEC9 SMPD2 SMPD3 ST6GALNAC4	1272 151056 2026 2215 2582 27036 27090 27180 2739 3251 3383 4153 4360 51477 55512 55790 5742 5743 6610	Homo sapiens (human)	DisGeNET DisGeNET
DOID:9584	Venezuelan equine encephalitis	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:11262	ornithosis Aliases: psittacosis	IL18R1	8809	Homo sapiens (human)	DisGeNET
DOID:13399	color blindness Aliases: BLINDNESS COLOR Colour blindness Colour vision deficiency	ACO2 CA4 CACNA2D4 ELOVL4 G6PD HS6ST1 MBD4 NYX PCYT1A SDHC STS	2539 412 50 5130 60506 6391 6785 762 8930 93589 9394	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:2772	irritant dermatitis Aliases: irritant contact dermatitis primary irritant dermatitis	APRT CBR1 PLCD1 PLCG1	353 5333 5335 873	Homo sapiens (human)	DisGeNET
DOID:0110305	autosomal dominant limb-girdle muscular dystrophy type 1 Aliases: LGMD1D autosomal dominant limb-girdle muscular dystrophy type 1E muscular dystrophy limb-girdle type 1D muscular dystrophy limb-girdle type 1E	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110792	hereditary spastic paraplegia 4 Aliases: SPG4 autosomal dominant spastic paraplegia 4 autosomal dominant spastic paraplegia type 4	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)	DisGeNET
DOID:11818	ureteric orifice cancer Aliases: Orifice of the Ureter malignant neoplasm of ureteric orifice of urinary bladder malignant tumor of ureteric orifice	DHCR24	1718	Homo sapiens (human)	DisGeNET
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	ACACA ACACB ACADM ACADVL ACO1 ADIPOQ ADRB3 ALDH2 CYP2E1 CYP8B1 DGAT2 FASN G6PD GPAM HADHA IRS2 LEP LEPR LPL MLYCD NAMPT PKLR PLA2G7 PNPLA3 PPARGC1A SCD SIRT2 SIRT4 SIRT6 TLR4 TNF UCP2	10135 10891 155 1571 1582 217 2194 22933 23409 23417 2539 3030 31 32 34 37 3952 3953 4023 48 51548 5313 57678 6319 7099 7124 7351 7941 80339 84649 8660 9370	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2957	pulmonary tuberculosis	ACACA ACE ACOT7 ADIPOQ AKT1 ALOX5 ATF3 CD14 CD1D CD209 CD44 CDH13 CEL CLEC4E CYP2E1 ENO2 FCGR3B FCN2 GBE1 GUSB HSD11B1 ICAM1 IL1R1 LTA4H LYZ MASP1 MBL2 MRC1 NTM PARP9 PLAUR SELE SELL SFTPA1 SFTPA2 SIGLEC1 SLC27A5 SLC39A8 SMUG1 SOAT1 TLR1 TLR2 TLR4 TM7SF2 TNF	1012 1056 10998 11332 1571 1636 2026 207 2215 2220 23583 240 26253 2632 2990 30835 31 3290 3383 3554 4048 4069 4153 4360 467 50863 5329 5648 6401 6402 64116 653509 6614 6646 7096 7097 7099 7108 7124 729238 83666 912 929 9370 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:8743	erythema infectiosum Aliases: Fifth disease	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)	DisGeNET
DOID:14757	Ehlers-Danlos syndrome hypermobility type Aliases: Ehlers-Danlos syndrome, type 3 type III Ehlers-Danlos syndrome	CYP21A2	1589	Homo sapiens (human)	DisGeNET
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	ACO2 AGXT CYP1B1 PRPS1 PTEN	1545 189 50 5631 5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:13564	aspergillosis Aliases: Infection due to Aspergillus	ABO ATP6V1A CAT CD14 CD209 CLEC1A CLEC7A CYP2C19 CYP51A1 LGALS1 MBL2 MRC1 TLR1 TLR6	10333 1557 1595 28 30835 3956 4153 4360 51267 523 64581 7096 847 929	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0112171	wrinkly skin syndrome Aliases: WSS	ATP6V0A2	23545	Homo sapiens (human)	Alliance of Genome Resources
DOID:11684	melanoacanthoma	CYP24A1 HK2 INPP5A LGALS3 MMUT NTHL1 PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPT1 PTGS2 SDHD	1591 3099 3632 3958 4594 4913 5290 5291 5293 5294 5338 5538 5743 6392	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110237	cataract 42 Aliases: CTRCT42	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)	DisGeNET
DOID:0070329	mitochondrial DNA depletion syndrome Aliases: mtDNA depletion syndrome	ACO2 CD44 CS DGKB DGKE PARP1 PIK3CA PIK3CB PIK3CD PIK3CG SLC25A10 SUCLA2 SUCLG1	142 1431 1468 1607 50 5290 5291 5293 5294 8526 8802 8803 960	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1574	alcohol use disorder Aliases: Ethanol abuse alcohol abuse	ABAT ABO ACADS ACE ACSS2 ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AKR1A1 AKR1C3 AKR1C4 AKT1 AKT2 ALDH1B1 ALDH2 ALDH3B2 ANGPTL3 ANXA4 APRT ARSA ATP1A2 CAT CD14 CDH13 CNTN4 CNTN6 COMT CYP19A1 CYP2B6 CYP2E1 CYP3A4 CYP3A5 CYP4F3 ECHS1 FADS1 FADS2 FOLR1 GAD1 GAD2 GAPDH GGT1 GLUL GM2A GSTO1 GSTO2 GUSB HPGDS HSD11B2 HSPG2 HTR2A IGF2 IL18R1 IL1R1 IMPA1 KL LYZ MGLL NCAM1 NCAN NPL PARP9 PC PIK3CA PIK3CB PIK3CD PIK3CG PLCD3 PNPLA3 PPAT PPP1R3B PPP1R3C PRSS21 SHMT1 SHMT2 SLC17A5 SLC39A8 SMPD1 SRD5A1 SRD5A2 ST6GAL1 ST8SIA4 TIPARP TKT TMEM260 UMOD	1012 10327 10942 1109 113026 11343 119391 124 125 126 127 128 130 131 1312 1463 152330 1555 1571 1576 1577 1588 1636 18 1892 207 208 217 219 222 2348 2571 2572 2597 25976 26503 2678 27255 27306 27329 2752 2760 28 2990 307 3291 3339 3356 3481 35 353 3554 3612 3992 4051 4069 410 4684 477 5091 5290 5291 5293 5294 5471 54916 5507 55902 64116 6470 6472 6480 6609 6715 6716 7086 7369 7903 79660 80339 80896 83666 847 8644 8809 929 9365 9415 9446	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:7439	polyp of middle ear Aliases: polyp - middle ear polyp of the middle ear	CLEC10A CLEC12B CLEC5A CLEC6A CLEC7A LY75 MGLL MRC1 PIK3CA PIK3CB PIK3CD PIK3CG PSMD10 PTGS2 STS	10462 11343 23601 387837 4065 412 4360 5290 5291 5293 5294 5716 5743 64581 93978	Homo sapiens (human)	DisGeNET
DOID:12358	patulous eustachian tube	SCD	6319	Homo sapiens (human)	DisGeNET

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