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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 **4376 - 4400** of **4621** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0070331	mitochondrial DNA depletion syndrome 8b Aliases: mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related	TYMP	1890	Homo sapiens (human)
DOID:5766	pulmonary sclerosing hemangioma Aliases: Pneumocytoma	CEACAM5 PTEN SMUG1	1048 23583 5728	Homo sapiens (human)
DOID:11755	choledocholithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)
DOID:0110134	Bardet-Biedl syndrome 12 Aliases: BBS12	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:5127	bizarre leiomyoma Aliases: Atypical leiomyoma Pleomorphic leiomyoma Symplastic leiomyoma	FH	2271	Homo sapiens (human)
DOID:3413	alpha-mannosidosis Aliases: Alpha-D-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase	MAN2B1 MAN2C1	4123 4125	Homo sapiens (human)
DOID:0110336	osteogenesis imperfecta type 8 Aliases: OI8 osteogenesis imperfecta type VIII	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:0110047	Alzheimer's disease 14 Aliases: AD14 Alzheimer disease 14 Alzheimer's disease 14, late onset	ABO ACACA ACADVL ACAT1 ACE ACHE ACO1 ACO2 ACOT7 ACOT8 ACSL6 ACSS2 AGPS AGRN AKR1A1 AKR1C2 AKR1C4 ALDH2 ALDH7A1 ALOX12 ALOX5 ALPI ALPP ANXA5 APRT ARSA ASAH1 ATRNL1 B3GALT4 B3GAT1 BCAN BST1 CALR CAT CD14 CD177 CD209 CD33 CD38 CD44 CD55 CD74 CDH13 CEACAM5 CFC1 CH25H CHAT CHI3L1 CHIT1 CLC CLEC16A CLEC1B CLEC7A CLN5 CNTN1 CNTN2 COG5 COLGALT2 COMT CPO CPT1A CRYL1 CS CSPG4 CTNS CYP11A1 CYP17A1 CYP19A1 CYP1A2 CYP27A1 CYP2B6 CYP2C9 CYP2J2 CYP3A4 CYP46A1 CYP7B1 CYP8B1 DCN DEGS1 DGKQ DHCR24 DHRS11 DLD DLST DPEP2 EDEM2 EFNA5 ENO1 ENO2 ENPP2 EPHX2 FASN FBXO2 FCGR3B FCN2 FDPS FOLR2 G6PD GAD1 GAD2 GALNS GAPDH GAPDHS GBA1 GFRA1 GGT1 GLB1 GLO1 GLUL GNE GNPAT GNPDA2 GOLPH3 GPAA1 GPC1 GPC6 GPI GPNMB GPX1 GTDC1 GUSB HAS1 HAS3 HK1 HMGCS2 HPGDS HPSE2 HPSE HS3ST1 HSD11B1 HSD17B1 HSD17B4 HSD17B6 HSD17B7 HSPG2 HYI ICAM1 IDH1 IDH2 IGF2R IL1R1 IL1RAP IL1RL1 IMPA1 INPP5D INPP5K INPPL1 ITPKB KL KLRC1 L1CAM LCAT LCT LDHA LGALS3 LGALS4 LGALS9 LIPA LIPC LIPG LPL LTC4S LYZ LYZL4 MAG MASP1 MBL2 MDH2 MELTF MGAT3 MGLL MICA MMUT MOGAT3 MPG MPI MRC1 NAAA NAMPT NANS NCAM1 NEU1 NPL NT5E OGA OGDH OGDHL OGG1 OGT OLR1 PAFAH1B2 PARP1 PC PCK1 PCYT1A PCYT1B PEMT PFKFB3 PGD PGP PI4KA PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIKFYVE PKM PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLCB1 PLCG2 PLD1 PLD2 PLD3 PLPP4 PMM2 PNP PNPLA2 PNPLA7 PPT1 PRG2 PRKAA2 PRNP PTDSS1 PTEN PTGDS PTGES2 PTGES3 PTGES PTGS1 PTGS2 RENBP RGN RTN4R SCD5 SCD SCP2 SDC2 SDC3 SDCBP2 SFTPA1 SFTPC SGMS2 SGSH SI SIGLEC7 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC33A1 SLC35A1 SLC35A2 SMPD2 SMPD3 SMUG1 SOAT1 SPHK1 SPHK2 SQLE ST3GAL4 ST6GAL1 ST8SIA1 STS SUCLA2 SUCLG2 SYNJ1 TIGAR TKT TM7SF2 TMED9 TPI1 UGCG UGT1A1 UMOD UNG VCAM1 VCAN	10005 10020 100507436 10082 1012 10135 10327 10400 10457 10466 1048 10559 10724 10728 10855 10858 1103 1109 1116 1118 11332 11343 1178 1203 1272 130749 1312 131375 132789 1374 142 1431 1462 1464 1497 151056 1544 1555 1559 1573 1576 1582 1583 1586 1588 1593 1604 1609 1634 1636 1646 166929 1718 1738 1743 1946 196051 200576 2023 2026 2053 217 2194 2215 2220 2224 22933 23127 23236 23274 23305 2350 23583 23646 23659 239 240 248 250 2539 2571 2572 2588 2597 26033 26232 2629 26330 2674 2678 27036 27087 27111 27163 2720 27306 2739 2752 28 2817 2821 283871 2876 2990 3036 3038 308 30835 3098 31 3158 3290 3292 3295 3339 3383 3417 3418 346606 3482 353 3554 3556 3612 3635 3636 37 3707 375775 375790 38 3821 3897 3931 3938 3939 3958 3960 3965 3988 3990 4023 4056 4069 4099 410 412 4153 4191 4241 4248 427 43 4350 4351 4360 4594 4684 4758 48 4860 4907 4967 4968 4973 50 501 5049 5091 5105 51084 51266 5130 51478 51548 5168 51763 5209 5226 5289 5290 5291 5293 5294 5297 5315 5319 5320 5321 5329 5336 5337 5338 5373 54187 54658 54732 5538 55512 5553 5563 55741 55753 55902 55997 5621 5648 56848 57103 57104 57126 5728 5730 5742 5743 5973 60495 6319 6342 63827 6383 64083 64174 6440 6448 64581 6476 6480 6484 6489 65078 6515 6517 653509 6610 6646 6713 683 6900 7086 7108 7167 7355 7357 7369 7374 7412 79154 7941 79712 79966 80142 80896 811 81888 8398 8443 847 8473 8540 8560 8630 8705 8733 8801 8803 8867 8877 9023 9104 9173 9197 929 9365 9388 9420 945 9468 952 9536 960 9672 972 9791 9957	Homo sapiens (human)
DOID:2477	motor peripheral neuropathy Aliases: HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy	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:854	collagen disease Aliases: collagen disorder	ACE B3GALT6 B4GALT7 CD22 COL9A2 CYP3A5 DCN GLB1 HPRT1 NT5E PCYT1A PKD1 PKD2 PLOD3 SCP2 SELE SLC2A10 TLR4	11285 126792 1298 1577 1634 1636 2720 3251 4907 5130 5310 5311 6342 6401 7099 81031 8985 933	Homo sapiens (human)
DOID:0060158	acquired metabolic disease	PNPLA2 PNPLA3	57104 80339	Homo sapiens (human)
DOID:3127	proctitis	CALR CAT CEACAM5 CEACAM6 CEACAM7 COG6 GP2 LYZ MUTYH PARP1	1048 1087 142 2813 4069 4595 4680 57511 811 847	Homo sapiens (human)
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	MTM1 MTMR14	4534 64419	Homo sapiens (human)
DOID:6255	growth hormone secreting pituitary adenoma Aliases: Growth Hormone Producing adenoma of the Pituitary Somatotroph adenoma growth hormone secreting adenoma of pituitary	KL PKD1 PTGS2 SDHD	5310 5743 6392 9365	Homo sapiens (human)
DOID:0110253	cataract 14 multiple types Aliases: CTRCT14	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:9574	choanal atresia Aliases: Atresia of nares Imperforate nares posterior choanal atresia	ALDH1A3 COMT DHCR7 GAS1 PTDSS1 SMC3	1312 1717 220 2619 9126 9791	Homo sapiens (human)
DOID:0050851	glomerulosclerosis	ACE PLA2G7	1636 7941	Homo sapiens (human)
DOID:4137	common bile duct disease	SLC25A12 SLC25A13	10165 8604	Homo sapiens (human)
DOID:0110829	retinitis pigmentosa-deafness syndrome	ARSG ASAH1 PLD4	122618 22901 427	Homo sapiens (human)
DOID:6163	familial renal papillary carcinoma Aliases: Hereditary Papillary renal carcinoma	FH	2271	Homo sapiens (human)
DOID:0050765	neuroacanthocytosis	PIK3CA PIK3CB PIK3CD PIK3CG	5290 5291 5293 5294	Homo sapiens (human)
DOID:8481	rheumatic myocarditis Aliases: Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatoid myocarditis active rheumatic fever with myocarditis acute rheumatic carditis acute rheumatic myocarditis	ICAM1 SELE VCAM1	3383 6401 7412	Homo sapiens (human)
DOID:7426	cutaneous anthrax	CAT	847	Homo sapiens (human)
DOID:0060577	3MC syndrome 3	COLEC10 COLEC11 MASP1	10584 5648 78989	Homo sapiens (human)
DOID:0111060	Ambras type hypertrichosis universalis congenita Aliases: Ambras syndrome HTC1	EFNA5	1946	Homo sapiens (human)

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