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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 **2651 - 2675** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:13189	gout Aliases: Articular gout Gouty arthropathy gouty arthritis	ADRB3 ALOX5 BCKDHA CD14 CNTN5 CYP2C8 CYP2E1 CYP4F3 G6PC1 HPRT1 IL1R1 INPP5D MACROD1 PFKM PKD2 PRPS1 PYGM SLC37A4 TPST1 UMOD	155 1558 1571 240 2538 2542 28992 3251 3554 3635 4051 5213 5311 53942 5631 5837 593 7369 8460 929	Homo sapiens (human)
DOID:3535	Unverricht-Lundborg syndrome Aliases: Unverricht - Lundborg disease Unverricht's disease Unverricht-Lundborg disease	AMT ARSA ASAH1 ATP6V1A CERS1 CLN5 CNTN2 COG8 CYP27A1 CYP2C19 DHDDS EPM2A GBA1 GCSH GLDC GLYCTK HEXB HIBCH HMGCL INPP4A ISYNA1 MECR NAGA NEU1 NGLY1 PFKL PGAP2 PGAP3 PIGA PIGL PIGO PIGP PIGQ PIGV PIGW PIGY PIK3C2A PLA2G6 PLCB1 POMGNT1 PPT1 PRNP PSAP RFT1 SC5D SDHA SDHD ST3GAL3 ST3GAL5 SYNJ1 TMED9	10715 1203 132158 1557 1593 23236 26275 2629 2653 2731 27315 275 284098 3074 3155 3631 410 427 4668 4758 51102 51227 51477 5211 523 5277 5286 54732 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:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	ABO ACE CD14 CEL CHI3L1 IL18R1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SFTPA1 SLC27A5 SMUG1 TLR2 TNF	1056 10998 1116 1636 23583 28 4684 5290 5291 5293 5294 5743 653509 7097 7124 83666 8809 929	Homo sapiens (human)
DOID:6171	uterine carcinosarcoma Aliases: mixed mullerian sarcoma of uterus	L1CAM PIK3CA PTEN SMUG1	23583 3897 5290 5728	Homo sapiens (human)
DOID:8411	kidney angiomyolipoma Aliases: Angiomyolipoma of kidney renal Angiomyolipoma	ABO LGALS3 OGG1 PLA2G1B SMUG1	23583 28 3958 4968 5319	Homo sapiens (human)
DOID:7689	leptomeninges sarcoma Aliases: Leptomeningeal sarcoma sarcoma of Leptomeninges	PTEN	5728	Homo sapiens (human)
DOID:0110492	autosomal recessive nonsyndromic deafness 33 Aliases: DFNB33 autosomal recessive deafness 33	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:8645	subacute delirium	ACHE ACSS2 COMT CYP3A5 ENO2 FCGR3B FIG4 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G15 SOAT1 UGCG	1312 1577 2026 2215 23659 3958 43 5290 5291 5293 5294 55902 6646 7357 9896	Homo sapiens (human)
DOID:9957	periostitis	DPEP1	1800	Homo sapiens (human)
DOID:0111646	congenital lactase deficiency Aliases: CLD congenital alactasia congenital alactasia syndrome congenital lactose intolerance congenital lactose malabsorption disaccharide intolerance II	LCT	3938	Homo sapiens (human)
DOID:0060838	isolated microphthalmia 7 Aliases: MCOP7	ALDH1A3	220	Homo sapiens (human)
DOID:0110574	autosomal dominant nonsyndromic deafness 4B Aliases: DFNA4B autosomal dominant deafness 4B	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:13949	interstitial cystitis Aliases: ulcerative cystitis	ACAN ALDH2 DCN DGCR2 ICAM1 INPP5D MGLL MRC1 PARP1 PIK3CA PIK3CB PIK3CD PLA2G2A PLA2G6 PLB1 PTGS2 SELE SFTPD SMC3 UMOD VCAM1	11343 142 151056 1634 176 217 3383 3635 4360 5290 5291 5293 5320 5743 6401 6441 7369 7412 8398 9126 9993	Homo sapiens (human)
DOID:3702	cervical adenocarcinoma Aliases: adenocarcinoma cervix uteri adenocarcinoma of cervix adenocarcinoma of the uterine Cervix	ACE ADH1C AKR1B10 AKR1C3 ALPI ALPP ANXA5 APRT B3GNT3 B4GALT3 CACNA2D2 CALR CAT CD38 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHI3L1 CLEC10A COMT CYP19A1 CYP1A1 CYP1B1 CYP2E1 CYP4F3 DCN DHCR24 EFNA2 FBP1 G6PD GALNT7 GCNT2 GLB1 GPC3 GPNMB GPX2 GPX3 HK2 HMMR HPGDS HPSE2 HPSE HS3ST2 ICAM1 IGF2R IL18R1 IL1R1 IL1RAP INPP4B ITPKC KL KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LYPD5 MASP1 MASP2 MBD4 MBL2 MCAT MGLL MICA MMUT MPG MRC1 MSLN NT5E OGG1 OPCML PARP1 PARP2 PC PDIA3 PGD PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLPP1 PRKAA2 PRSS21 PTEN PTGS1 PTGS2 RECK RGN SDC1 SDHA SDHD SIRT2 SMUG1 SOAT1 ST3GAL3 ST3GAL4 ST6GAL1 ST6GALNAC5 STS STT3A TFF1 TKT TKTL1 TM7SF2 TNFRSF10C TP53 UGCG VTCN1 XPNPEP2	10038 100507436 1012 10232 10331 10457 10462 1048 10747 10855 1087 10942 1116 11343 126 1312 142 1543 1545 1571 1588 1604 1634 1636 1718 1943 2203 22914 22933 23583 248 250 2539 2651 2719 2720 27306 27349 284348 2877 2878 2923 308 3099 3161 3383 3482 353 3554 3556 3703 3897 3939 3956 3958 3965 3988 4051 412 4153 4350 4360 4594 4907 4968 4978 5091 51809 5226 5290 5291 5293 5294 5315 5321 5563 5648 57016 5728 5742 5743 60495 6382 6389 6392 6480 6484 6487 6646 7031 7086 7108 7157 7357 7512 79679 80271 811 81849 8277 8434 847 8611 8644 8703 8794 8809 8821 8930 9104 9254 9365 952 960 9956	Homo sapiens (human)
DOID:9870	galactosemia Aliases: Galactosaemia Galactose intolerance	ABO ACADM AGL AGXT AKR1B1 ALDOA ALG9 APRT CD14 CYP4F3 CYP51A1 EHHADH ENO3 EPM2A FBP1 G6PC1 G6PC2 G6PC3 G6PD GAA GALE GALK1 GALM GALT GBE1 GK GLA GP2 GPI GYG1 GYG2 GYS2 HADHA HK1 HPGDS ICAM1 IDS IGF2R LDHA LGALS1 LPL MGAM MGAT1 MPDU1 MTM1 NDUFAB1 PFKL PFKM PGAM2 PGK1 PGM1 PTEN PYGL PYGM SI SLC2A2 SLC35A2 SLC37A4 SLC3A1 SLC5A1 TKT UGP2 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UGT8 VCAM1	130589 1595 178 189 1962 2027 2203 226 231 2538 2539 2542 2548 2582 2584 2592 2632 2710 2717 27306 28 2813 2821 2992 2998 3030 3098 3383 34 3423 3482 353 3939 3956 4023 4051 4245 4534 4706 5211 5213 5224 5230 5236 54575 54576 54577 54578 54657 54658 5728 57818 5836 5837 6476 6514 6519 6523 7086 7355 7360 7368 7412 7957 79796 8908 8972 92579 929 9526	Homo sapiens (human)
DOID:0110716	Warburg micro syndrome 1 Aliases: Micro Syndrome 1 WARBM1	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:4626	hydranencephaly	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 3339 412 5048 50814 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	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:900	hepatopulmonary syndrome	GBA1 PTEN PTGS2 TNF	2629 5728 5743 7124	Homo sapiens (human)
DOID:5376	skin pilomatrix carcinoma Aliases: Pilomatricoma, malignant malignant Pilomatricoma	SMUG1	23583	Homo sapiens (human)
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	CAT CD44 CYP19A1 CYP2E1 FASN MTAP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGDS PTGS2 SIRT2 TMEM165	1571 1588 2194 22933 4507 5290 5291 5293 5294 55858 5728 5730 5743 847 960	Homo sapiens (human)
DOID:2562	suppurative periapical periodontitis Aliases: Apical abscess Dentoalveolar abscess Periapical abscess Suppurative apical periodontitis	CD44 ENPP1 NT5E	4907 5167 960	Homo sapiens (human)
DOID:0110871	congenital stationary night blindness 2A Aliases: congenital stationary night blindness 2A X-linked	NYX	60506	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:0111168	sepiapterin reductase deficiency Aliases: DRD due to SRD SPR deficiency SRD dopa-responsive dystonia due to sepiapterin reductase deficiency	CHI3L1 MCEE	1116 84693	Homo sapiens (human)

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