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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 **1026 - 1050** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0050777	Joubert syndrome Aliases: JBTS	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN GYS2 HSPG2 INPP5B INPP5E LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS SYNJ1 SYNJ2 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 2998 3339 3633 412 5048 50814 51227 523 55624 56623 6383 729920 79147 84197 84892 8867 8871 9091 9215 9896	Homo sapiens (human)
DOID:0060270	pontocerebellar hypoplasia type 2D	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN HSPG2 LARGE1 NSDHL PAFAH1B1 PCCA PCCB 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 5095 5096 51227 523 55624 6383 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:0060278	pontocerebellar hypoplasia type 9	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:0060276	pontocerebellar hypoplasia type 7	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:0090132	complex cortical dysplasia with other brain malformations 7 Aliases: CDCBM7 polymicrogyria due to TUBB2B mutation	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:0090137	complex cortical dysplasia with other brain malformations 1 Aliases: CDCBM1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	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: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:0060277	pontocerebellar hypoplasia type 8	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:0060807	syndromic X-linked intellectual disability Najm type Aliases: MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia	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:0110096	short-rib thoracic dysplasia 14 with polydactyly Aliases: SRTD14	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:0090130	cortical dysplasia-focal epilepsy syndrome Aliases: CDFE syndrome CDFES PTHSL1 Pitt-Hopkins-like syndrome-1	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 5048 50814 51227 523 55624 729920 79147 84197 84892 9091 9215 9896	Homo sapiens (human)
DOID:3491	Turner syndrome Aliases: Bonnevie-Ullrich syndrome Gonadal dysgenesis - Turner Karyotype 45, X Monosomy X XO syndrome monosomy X syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)
DOID:14447	gonadal dysgenesis Aliases: Gonadal dysgenesis syndrome	ASAH1 CAT CD38 CYP19A1 CYP21A2 GAPDH HSD17B4 INPPL1 MBL2 MOGS NT5E PCYT1A PGD RXYLT1 SMC3 SRD5A2	10329 1588 1589 2597 3295 3636 4153 427 4907 5130 5226 6716 7841 847 9126 952	Homo sapiens (human)
DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10 Aliases: MDDGA10 Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10	RXYLT1	10329	Homo sapiens (human)
DOID:8469	influenza Aliases: Influenza with other manifestations flu influenza with non-respiratory manifestation	ABO AGA AKR1C4 APRT ARSF B3GAT1 B3GNT3 BST2 CD14 CD177 CD248 CD38 CD44 CD48 CD55 CEL CLEC10A CLEC7A CLEC9A CPT2 DDOST DLAT DPEP1 ENO1 FCN2 FUT2 GAD1 GAL3ST1 GALNS GAPDH GGT1 GLA GLDC GOLPH3 GPI HACD1 ICAM1 IL18R1 ISYNA1 KLRB1 KLRD1 LGALS9 MBL2 MMUT MPPE1 MRC1 NAGA NEU1 NPL PARP12 PARP9 PDIA3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PRKAA2 PRNP PRSS8 PSMD10 PTEN PTGS1 PTGS2 SDC1 SELL SFTPD SIGLEC1 SLC27A5 SLC35A1 SPHK2 ST3GAL3 ST6GAL1 TECR UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10331 10462 10559 1056 10998 1109 1376 1604 1650 1737 175 1800 2023 2220 2524 2571 2588 2597 2678 27087 2717 2731 28 2821 283420 2923 3383 353 3820 3824 3965 4153 416 4360 4594 4668 4758 51477 5290 5291 5293 5294 5310 5315 54575 54576 54577 54578 54579 54600 54657 54659 5563 5621 5652 56848 57124 57126 5716 5728 5742 5743 6382 6402 64083 6441 64581 64761 6480 6487 65258 6614 684 80896 83666 8809 9200 929 9514 952 9524 960 962	Homo sapiens (human)
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)
DOID:0060000	infective endocarditis	ACE ARSD CHPT1 ENO1 GPI ICAM1 MANEA MTM1 PCYT1A SMUG1 TLR6	10333 1636 2023 23583 2821 3383 414 4534 5130 56994 79694	Homo sapiens (human)
DOID:4483	rhinitis	ACE CD14 HPGDS ICAM1 IL1RL1 LEP MBL2 PGP PTGDS SFTPD SIGLEC7 ST8SIA4 TLR2 TLR6 TNF	10333 1636 27036 27306 283871 3383 3952 4153 5730 6441 7097 7124 7903 9173 929	Homo sapiens (human)
DOID:5679	retinal disease	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CEPT1 CHAT CHI3L1 CHPT1 CTNS CYP1B1 CYP2C19 CYP2C9 DCN DDOST ENPP1 GAD2 GCK GLO1 GLUL GM2A GNPTAB GUSB HADHA HEXB HPSE ICAM1 IDUA ISYNA1 KL LGALS1 NEU1 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PLA2G6 PLA2G7 PLCB4 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	10390 1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 23761 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5332 5338 55624 56848 56994 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)
DOID:9352	type 2 diabetes mellitus Aliases: NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus	Adipoq Akr1b1 Akt1 Akt2 Aldob Apod Bad Cd38 Chi3l1 Cpt1a Crtc2 Enpp1 Fuca1 G6pc1 G6pd2 G6pdx Gck Gpd2 Gsk3b Hk2 Igf2 Inppl1 Ins1 Ins2 Kcnj11 Kcnq1 Kl Lep Lepr Nampt Nr1d1 Oga Ogg1 Ogt Pck1 Pdx1 Pik3r1 Ppargc1a Ppp1ca Ppp1cc Ppp1r3a Ppp1r3c Prkaa1 Rbp4 Serpina12 Tcf7l2 Tlr4 Tnf Ucp2 Ugt1a1 Ugt1a6a Ugt1a6b Ugt1a7c Usf1	103988 105787 108155 11450 11651 11652 11677 11815 12015 12494 12654 12894 140491 14377 14380 14381 14571 15277 16002 16332 16333 16334 16514 16535 16591 16846 16847 18294 18534 18605 18609 18708 19017 19045 19047 19662 21416 217166 21898 21926 22228 22278 230163 394432 394435 394436 53412 56637 59027 68054 71665 74343 76055 94284	Mus musculus (house mouse)
DOID:9970	obesity	Adipoq Akt2 Aldh1a1 Apod Bad Comt Cpt1a Enpp1 G6pd2 G6pdx Gapdh Gck Hk1 Hk2 Htr2a Inppl1 Lep Lepr Myc Nampt Neil1 Npy1r Pdx1 Pgf Pik3r1 Ppara Ppargc1a Prkaa1 Rbp4 Serpina12 Sirt6 Tcf7l2 Tlr4 Tnf Ucp2 Wdtc1	103988 105787 11450 11652 11668 11815 12015 12846 12894 14380 14381 14433 15275 15277 15558 16332 16846 16847 17869 18166 18605 18609 18654 18708 19013 19017 19662 21416 21898 21926 22228 230796 50721 59027 68054 72774	Mus musculus (house mouse)
DOID:9351	diabetes mellitus Aliases: diabetes	Fuca1 G6pd2 G6pdx Gck Ins1 Ins2 Kcnj11 Ogt Pdx1 Tcf7l2 Tlr4	103988 108155 14380 14381 16333 16334 16514 18609 21416 21898 71665	Mus musculus (house mouse)
DOID:11714	gestational diabetes Aliases: GDM Gestational diabetes mellitus Maternal gestational diabetes mellitus	Adipoq Apod Gck Ins1 Ins2 Lep Ogg1 Rbp4 Tcf7l2	103988 11450 11815 16333 16334 16846 18294 19662 21416	Mus musculus (house mouse)
DOID:3393	coronary artery disease Aliases: CHD Coronary disease coronary arteriosclerosis coronary heart disease	Adipoq Chi3l1 Gck Il1rl1 Kl Lepr Nampt Ogg1 Ppara Rbp4 Tlr4 Tnf Trp53	103988 11450 12654 16591 16847 17082 18294 19013 19662 21898 21926 22059 59027	Mus musculus (house mouse)
DOID:9452	steatotic liver disease Aliases: Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis	Adipoq Dgat2 G6pc1 Gck Htr2a Ins1 Ins2 Lep Ppara Ppargc1a Ucp2	103988 11450 14377 15558 16333 16334 16846 19013 19017 22228 67800	Mus musculus (house mouse)

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