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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 **4126 - 4150** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:0060367	Parkinson's disease 1 Aliases: autosomal dominant Parkinson disease 1 autosomal dominant Parkinson's disease 1	SYNJ1	8867	Homo sapiens (human)
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	ABO ACACA ACADL ACADS ACAT1 ACE ACHE ACLY ACSBG1 ACSM3 ACSS2 AGXT AKR1B1 ALDH2 ALDOB AMACR ANXA5 APRT ARSA ATP6AP2 B3GAT1 CAT CBR1 CD14 CD177 CD248 CD55 CDH13 CERS2 CERS4 CHGA CHI3L1 CLEC16A CMAS CNTN3 COL9A2 COMT CPT1A CPT2 CYP11B2 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP3A4 CYP3A5 DDOST DGAT1 DGAT2 DHCR24 DPEP1 ENO1 ENPP1 EPHX2 EXTL2 FADS1 FADS2 FAR2 FASN FCGR3B G6PC1 GAD1 GALNT3 GFPT2 GGT1 GLA GLB1 GPX1 GPX3 GRHPR HJV HOGA1 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IGF2R KL LCAT LEPR LGALS3 LIPC LPIN1 LPL MANBA MBL2 MBOAT7 MICA MPI MTM1 NAGLU NAMPT OCRL OGA OGG1 OLR1 PARP1 PCYT1A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PKD1 PKD2 PLA2G10 PLA2G15 PLA2G2A PLA2R1 PLB1 PLCE1 PLD1 PLD2 PNPLA3 PRKAA2 PRNP PTGDS PTGES PTGS1 PTGS2 RBP4 RENBP RGMA RPN1 SDC1 SELE SELL SELP SFTPA1 SHMT1 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC3A1 SMPD3 SMUG1 SPHK2 ST8SIA4 STS TALDO1 TKT UMOD VCAM1 VCAN VNN1 XYLT2	100507436 1012 10135 10159 10724 10855 1113 1116 112817 1298 1312 1374 1376 142 1462 148738 151056 1543 1544 1555 1557 1558 1559 1576 1577 1585 1591 1594 1604 1636 1650 1718 1800 189 2023 2053 2135 217 2194 2215 229 22925 231 23175 23205 23274 23583 23600 23659 2538 2571 2591 26503 2678 27087 2717 2720 27306 28 2876 2878 29956 308 31 3290 3291 33 3383 3482 35 353 38 3931 3953 3958 3990 3992 4023 410 412 4126 4153 43 4351 4534 4669 47 4952 4968 4973 5067 51196 5130 51548 5167 5289 5290 5291 5293 5294 5310 5311 5320 5337 5338 55512 5563 55711 55902 55907 5621 56848 56963 57124 57126 5730 5742 5743 5950 5973 6184 6296 6382 6401 6402 6403 64132 6470 6517 6519 653509 6888 7086 7369 7412 7903 79143 79603 80339 8395 8399 84649 847 8694 873 8876 9197 929 9365 9380 9415 9536 9945	Homo sapiens (human)
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	ABAT ACE ACHE ALOX5 CAT CEACAM6 CHI3L1 CHIT1 CYP27A1 DLD EXT1 EXT2 FUT10 GBA1 GFRA2 GLCE GLDC GNE MASP2 PLA2G6 PRNP PSAP PTEN SARM1 SIGLEC7 SMUG1 SPTLC1 ST3GAL4 SUCLA2 TMED9	10020 10558 10747 1116 1118 1593 1636 1738 18 2131 2132 23098 23583 240 26035 2629 2675 27036 2731 43 4680 54732 5621 5660 5728 6484 8398 847 84750 8803	Homo sapiens (human)
DOID:1924	hypogonadism	ACAN ADH5 ALG1 ALPP AMACR ATRNL1 B4GALNT1 CA4 CD38 CTNS CYP11A1 CYP17A1 CYP19A1 CYP2R1 DDOST DHDDS EXT1 G6PC3 GALT GK HGSNAT HJV HS6ST1 HSD17B3 HSD3B1 IDH3A IDH3B INPP5K LEP PMM2 PNPLA6 POMGNT1 PTDSS1 SCP2 SGPL1 SLC3A1 STS TYMP	10908 120227 128 138050 148738 1497 1583 1586 1588 1650 176 1890 2131 23600 250 2583 2592 26033 2710 3283 3293 3419 3420 3952 412 51763 5373 55624 56052 6342 6519 762 79947 8879 92579 9394 952 9791	Homo sapiens (human)
DOID:4500	hypokalemia Aliases: hypopotassemia potassium deficiency disorder	AKR1B1 CTNS CYP11B1 CYP11B2 CYP17A1 HSD11B2 OCRL SLC2A2	1497 1584 1585 1586 231 3291 4952 6514	Homo sapiens (human)
DOID:0080217	lysosomal acid lipase deficiency Aliases: LAL deficiency LAL-D	CAT CEL CHIT1 LIPA LIPF NCAM1 SOAT2	1056 1118 3988 4684 8435 847 8513	Homo sapiens (human)
DOID:10600	chronic tic disorder Aliases: chronic motor or vocal tic disorder	CD44 ENO2	2026 960	Homo sapiens (human)
DOID:2590	familial nephrotic syndrome Aliases: Congenital nephrotic syndrome	ACAT1 ACE ALG1 ALOX5 CALR CHST14 CNTN1 CYP2C19 CYP3A4 CYP3A5 DGAT1 DGKE EXT1 FCGR3B GLA GLO1 GPAM GPC3 GPC5 HPSE HSD11B2 HSPG2 IL1R1 KL LCAT LGALS1 LIPC LTA4H LYZ MLYCD PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PLA2R1 PLB1 PLCE1 PMM2 PTGS2 SDC1 SDC2 SGPL1 SLC17A5 STS TREH VCAM1	10855 11181 113189 1272 151056 1557 1576 1577 1636 2131 2215 2262 22925 23417 240 26503 2717 2719 2739 3291 3339 3554 38 3931 3956 3990 4048 4069 412 51196 5290 5291 5293 5294 5310 5373 56052 5743 57678 6382 6383 7412 7941 811 8526 8694 8879 9365	Homo sapiens (human)
DOID:0110575	autosomal dominant nonsyndromic deafness 5 Aliases: DFNA5 autosomal dominant 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:10579	leukodystrophy	ABAT ACER3 ACOT12 ACOX1 ARSA ATRN DAG1 DEGS1 ECHS1 GALC GBE1 HSD17B4 MAG PC PDHA1 PLA2G1B PLA2G6 PLB1 PSAP SDHA SDHB SLC17A5 SORD TYMP	134526 151056 1605 18 1890 1892 2581 2632 26503 3295 4099 410 5091 51 5160 5319 55331 5660 6389 6390 6652 8398 8455 8560	Homo sapiens (human)
DOID:1039	prolymphocytic leukemia Aliases: PLL Prolymphocytic leukaemia	CD38 FCER2 ICAM1 SIRT2	2208 22933 3383 952	Homo sapiens (human)
DOID:12119	hemosiderosis Aliases: haemosiderosis	ACSM3	6296	Homo sapiens (human)
DOID:12132	granulomatosis with polyangiitis Aliases: Necrotizing respiratory granulomatosis Wegener granulomatosis, formerly	ABO ACE B3GAT1 CEL CHI3L1 CYP21A2 FCGR3B GBA3 GLA INPP4B KLRB1 MICA NAAA NT5E PARP9 PTEN SELP SLC27A5 SMUG1 TPI1 VCAM1	100507436 1056 10998 1116 1589 1636 2215 23583 27087 27163 2717 28 3820 4907 5728 57733 6403 7167 7412 83666 8821	Homo sapiens (human)
DOID:0110468	autosomal recessive nonsyndromic deafness 13 Aliases: DFNB13 autosomal recessive deafness 13	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:345	uterine disease	AKR1C2 CYP19A1 HSD17B1	1588 1646 3292	Homo sapiens (human)
DOID:14239	gastrointestinal tularemia Aliases: Enteric tularemia intestinal tularaemia	MBL2	4153	Homo sapiens (human)
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	CACNA2D1 GCDH GPI HSPG2 MTMR14	2639 2821 3339 64419 781	Homo sapiens (human)
DOID:0060583	Noonan syndrome 5 Aliases: NS5	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:11260	rabies Aliases: Lyssa	CH25H CYP1A2 CYP2C9 CYP3A4 ENOSF1 FUT2 GAS1 HPSE MTM1 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1C SOAT1	10855 1544 1559 1576 23396 2524 2619 4534 5290 5291 5293 5294 55556 6646 9023	Homo sapiens (human)
DOID:10113	trypanosomiasis	ABO ACAT1 ACE ACHE ALOX5 ALPI ALPP APRT CALR COLEC11 CS CYP21A2 CYP2B6 CYP51A1 DDOST DHCR24 FCN2 FDPS G6PD GAD1 GAPDH GCK GLUL LGALS3 LGALS9 LSS MASP2 MBL2 MICA MTAP NT5E PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLCB1 PLCB4 PNP PTGS2 RPIA SDC4 SIRT2 SMPD1 SMUG1 SOAT1 STS STT3A STT3B TPI1	100507436 10747 142 1431 1555 1589 1595 1636 1650 1718 201595 2220 2224 22933 22934 23236 23583 240 248 250 2539 2571 2597 2645 2752 28 353 3703 38 3958 3965 4047 412 4153 43 4507 4860 4907 5290 5291 5293 5294 5332 5743 6385 6609 6646 7167 78989 811	Homo sapiens (human)
DOID:13922	eosinophilic esophagitis	AGA AGXT ALOX15 ALOX5 ANXA5 CD1D CD44 CHIA CLC CLEC16A CYP2C19 ICAM1 IL18R1 IL1RL1 LALBA LCT LTC4S MPG OGDHL PRG2 PTGS2 SGSH SIGLEC8 SOAT1 VCAM1	1178 1557 175 189 23274 240 246 27159 27181 308 3383 3906 3938 4056 4350 5553 55753 5743 6448 6646 7412 8809 912 9173 960	Homo sapiens (human)
DOID:0111416	trichohepatoenteric syndrome 2 Aliases: THES2	CYP21A2	1589	Homo sapiens (human)
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	LGALS3 RGMA SOAT1	3958 56963 6646	Homo sapiens (human)
DOID:182	calcinosis Aliases: Pathologically calcified structure pathologic calcification	AGXT ALPL ALPP ATRNL1 CD44 CYP24A1 CYP27B1 CYP2R1 ENPP1 GALNT3 GPX1 GRHPR HOGA1 HSD11B2 KL OCRL PIGT PTGS2 SLC3A1 SLC5A1 STS	112817 120227 1591 1594 189 249 250 2591 26033 2876 3291 412 4952 51604 5167 5743 6519 6523 9365 9380 960	Homo sapiens (human)
DOID:3890	acute intermittent porphyria Aliases: AIP - acute intermittent porphyria Pyrroloporphyria porphyria intermittent acute	ARSA CAT CYP3A5 CYP4F3 DEGS1 DPAGT1 ENO1 SMUG1	1577 1798 2023 23583 4051 410 847 8560	Homo sapiens (human)

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