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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **876 - 900** of **4621** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0080265	nephrotic syndrome type 14	SGPL1	8879	Homo sapiens (human)
DOID:0080283	developmental and epileptic encephalopathy 55 Aliases: DEE55 GPIBD14 early infantile epileptic encephalopathy 55 glycosylphosphatidylinositol biosynthesis defect 14	PIGP	51227	Homo sapiens (human)
DOID:0080288	spinocerebellar ataxia 46	PLD3	23646	Homo sapiens (human)
DOID:0080301	atypical hemolytic-uremic syndrome	BAAT DGKE G6PD GPI GRHPR MASP1 PIGA	2539 2821 5277 5648 570 8526 9380	Homo sapiens (human)
DOID:0080302	mixed sleep apnea Aliases: complex sleep apnea	ACE CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3958 54187 55556 5728 5743 79158	Homo sapiens (human)
DOID:0080307	myofibrillar myopathy	CS PTEN	1431 5728	Homo sapiens (human)
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	CD22 CD38 KLRK1	22914 933 952	Homo sapiens (human)
DOID:0080322	polycystic kidney disease	ALG5 GANAB PKD1 PKD2 PLA2G4A PTGS1 PTGS2 XYLT2	23193 29880 5310 5311 5321 5742 5743 64132	Homo sapiens (human)
DOID:0080324	tuberous sclerosis 1	ABO AMACR APRT CANX CBR1 FCN2 HEXD ICAM1 MLYCD OGA OGG1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLB1 PLCD1 PRKAA2 PTEN PTGS1 PTGS2 SDC2 SDHB SORD TKT	10724 151056 2220 23417 23600 28 284004 3383 353 4968 5289 5290 5291 5293 5294 5310 5333 5563 5728 5742 5743 6383 6390 6652 7086 821 873	Homo sapiens (human)
DOID:0080325	tuberous sclerosis 2	NTHL1 PKD1 PTEN	4913 5310 5728	Homo sapiens (human)
DOID:0080326	familial hypertrophic cardiomyopathy	ABO ACACA ACADL ACADVL ACE AGK AGPAT2 ALG1 APRT ARSD ATP6V1A CALR3 CALR CNTN3 COG7 CPT1A CYP11B2 DLD ECHS1 FASN FKTN GAA GAPDH GLA GLB1 GNPTAB HADH HADHA ICAM1 IDH2 LGALS3 MGAM MLYCD NAGA PDHA1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G7 PMM2 SCD5 SCD SDHA SDHB SDHD SI SLC2A10 SLC33A1 SLC5A1 SMUG1 SUCLG1 SULT1E1 TPI1	10555 125972 1374 1585 1636 1738 1892 2194 2218 23417 23583 2548 2597 2717 2720 28 3030 3033 31 33 3383 3418 353 37 3958 414 4668 5067 5160 523 5289 5290 5291 5293 5294 5310 5373 55750 56052 6319 6389 6390 6392 6476 6523 6783 7167 79158 7941 79966 81031 811 8802 8972 91949 9197	Homo sapiens (human)
DOID:0080329	cold-induced sweating syndrome 1	CNTFR	1271	Homo sapiens (human)
DOID:0080332	bicuspid aortic valve disease Aliases: Familial bicuspid aortic valve	ACAN ACE ARSD ATP6V0A2 B3GALT6 B3GAT3 CD44 CHST3 ENPP1 GAPDH ICAM1 KL NT5E PLA2G7 PLPP3 STS	126792 1636 176 23545 2597 26229 3383 412 414 4907 5167 7941 8613 9365 9469 960	Homo sapiens (human)
DOID:0080333	aortic valve disease 1	ACAN ACE ARSD ATP6V0A2 B3GALT6 B3GAT3 CD44 CHST3 ENPP1 GAPDH ICAM1 KL NT5E PLA2G7 PLPP3 STS	126792 1636 176 23545 2597 26229 3383 412 414 4907 5167 7941 8613 9365 9469 960	Homo sapiens (human)
DOID:0080334	aortic valve disease 2	ACAN ACE ALOX5 ARSD ATP6AP2 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CD14 CHST3 CTSA CYP11B2 CYP24A1 EBP ENO3 ENPP1 FCGR3B FH GAPDH GLB1 GNPTG IDUA LGALS3 LGALS4 MPG NT5E OGA OGT PIK3CA PIK3CB PIK3CD PIK3CG PSAP PTDSS1 SDC1 SDC4 SLC2A10 STS	10159 10682 10724 11285 126792 1585 1591 1636 176 2027 2215 2271 23545 240 2597 26229 2720 3425 3958 3960 412 414 4350 4907 5167 5290 5291 5293 5294 5476 5660 6382 6385 81031 84572 8473 929 9469 9791	Homo sapiens (human)
DOID:0080335	mitochondrial DNA depletion syndrome 12b	AGK CS	1431 55750	Homo sapiens (human)
DOID:0080342	Simpson-Golabi-Behmel syndrome type 2	PIGA	5277	Homo sapiens (human)
DOID:0080347	malignant pheochromocytoma Aliases: Pheochromocytoma, malignant	SDHB	6390	Homo sapiens (human)
DOID:0080348	Alzheimer's disease 1 Aliases: Alzheimer's disease 1, early 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:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	ACAN SLC25A12	176 8604	Homo sapiens (human)
DOID:0080351	CLOVES syndrome Aliases: congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	ARSD ASAH1 CD48 CSPG5 GPC3 IGF2R IL1RL1 LGALS1 PGAP2 PIK3CA SMUG1	10675 23583 2719 27315 3482 3956 414 427 5290 9173 962	Homo sapiens (human)
DOID:0080352	X-linked chondrodysplasia punctata 2 Aliases: Conradi-Hunermann Syndrome Happle syndrome	DHCR24 EBP FDFT1 GNPAT NSDHL STS	10682 1718 2222 412 50814 8443	Homo sapiens (human)
DOID:0080354	Phelan-McDermid syndrome Aliases: 22q13.3 deletion syndrome monosomy 22q13 syndrome	ARSA PNPLA3	410 80339	Homo sapiens (human)
DOID:0080356	IgG4-related disease	ENO1 PLB1 SDC1 SMUG1	151056 2023 23583 6382	Homo sapiens (human)
DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda	ACAN CD38 CHST3 GLB1 HSPG2	176 2720 3339 9469 952	Homo sapiens (human)

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