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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 **1826 - 1850** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:0080540	galactosialidosis	CTSA GLB1 HPRT1 NEU1	2720 3251 4758 5476	Homo sapiens (human)
DOID:3138	acanthosis nigricans Aliases: keratosis nigricans	AGPAT2 CYP19A1 ELOVL1 PNPLA2 SLC2A3	10555 1588 57104 64834 6515	Homo sapiens (human)
DOID:0110121	Axenfeld-Rieger syndrome type 2 Aliases: RIEG2 Rieger syndrome type 2	SULT1E1	6783	Homo sapiens (human)
DOID:9273	citrullinemia Aliases: ASS deficiency deficiency of citrulline-aspartate ligase	ACOX1 ARSD GGT1 GPD2 SLC25A12 SLC25A13	10165 2678 2820 414 51 8604	Homo sapiens (human)
DOID:4976	elephantiasis	ALG8 GLA GUSB INPPL1 MPI NAGA PIK3CA PMM2 PTEN SLC35D1	23169 2717 2990 3636 4351 4668 5290 5373 5728 79053	Homo sapiens (human)
DOID:7165	subacute thyroiditis Aliases: De Quervain's thyroiditis Giant-cell thyroiditis Granulomatous thyroiditis Subacute Granulomatous Thyroiditis	GUSB SMUG1	23583 2990	Homo sapiens (human)
DOID:2722	acrodermatitis	ACE AGA AGXT AKR1C3 ALDH3A2 ALDH7A1 ALOX5 APRT ARSH ASGR1 CALR CAT CD109 CD44 CD74 CERS3 CHI3L1 CLEC10A COL9A2 COMT ELOVL1 ELOVL6 FDFT1 HPGDS HPSE ICAM1 IL1R1 IL1RL2 LGALS3 LGALS9 MBL2 MRC1 NAAA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B PLA2G4A PLAUR PLCB3 POFUT1 PTGDS PTGS2 SDC1 SLC17A5 SOAT1 VCAM1	10462 10855 1116 1298 1312 135228 142 1636 175 189 204219 2222 224 23509 240 26503 27163 27306 3383 347527 353 3554 3958 3965 4153 432 4360 501 5290 5291 5293 5294 5319 5321 5329 5331 5730 5743 6382 64834 6646 7412 79071 811 847 8644 8808 960 972	Homo sapiens (human)
DOID:4769	pleuropulmonary blastoma	NCAM1	4684	Homo sapiens (human)
DOID:10352	breast fibroadenosis Aliases: Fibroadenosis - breast Fibroadenosis of breast	INPP4B PTEN PTGS2	5728 5743 8821	Homo sapiens (human)
DOID:2975	cystic kidney disease Aliases: renal Cyst	ALG8 ALG9 ARF4 CEL FH GPC3 HSD17B1 HSD17B4 INPP5E PIGT PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PMM2 POMT2 PRKCSH PTEN UGCG UMOD	1056 2271 2719 29954 3292 3295 378 51604 5290 5291 5293 5294 5310 5311 5373 5589 56623 5728 7357 7369 79053 79796	Homo sapiens (human)
DOID:7428	pineal region germinoma	CALR	811	Homo sapiens (human)
DOID:0060127	gamma heavy chain disease Aliases: Franklin's disease	ASAH2	56624	Homo sapiens (human)
DOID:0110341	osteogenesis imperfecta type 2 Aliases: OI2 Vrolik type of osteogenesis imperfecta osteogenesis imperfecta type II perinatal lethal osteogenesis imperfecta congenita	ALPL BAAT CD38 CD44 DCN PNPLA2 PTGS2 SMPD3	1634 249 55512 570 57104 5743 952 960	Homo sapiens (human)
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	AGA ALG11 ALG12 ALG13 ALG1 ALG1L2 ALG2 ALG3 ALG6 ALG8 ALG9 ALPI ALPP APRT ATP6AP1 ATP6AP2 ATP6V0A2 B4GALT1 CCDC115 COG2 COG5 COG6 COG7 COG8 DAG1 DCN DDOST DLD DPAGT1 FCSK FUT8 GOLPH3 GPI MAN1A1 MAN1B1 MGAM MGAT2 MOGS MPDU1 MPI PGAP1 PGAP3 PGM1 PGM3 PMM2 POFUT2 RFT1 RXYLT1 SI SLC35A1 SLC35A2 SLC35A3 SLC39A8 SRD5A3 ST3GAL3 STT3A STT3B TMEM165 TUSC3	10159 10195 10329 10466 10559 11253 1605 1634 1650 1738 175 1798 197258 201595 22796 23275 23443 23545 248 250 2530 2683 2821 29929 353 3703 4121 4247 4351 440138 5236 5238 537 5373 55858 56052 57511 64083 64116 644974 6476 6487 7355 7841 79053 79087 79644 79796 79868 7991 80055 84317 84342 85365 8972 91869 91949 93210 9526	Homo sapiens (human)
DOID:37	skin disease Aliases: Genodermatosis skin and subcutaneous tissue disease	ACE AGXT AKR1B10 ALOX12 ALOX12B B4GALT6 B4GALT7 BST2 CD14 CD1D CD38 CD44 CHI3L1 CHST8 CYP24A1 CYP2B6 DCN DGKG DHCR24 EBP ELOVL4 ENPP2 FADS2 FCGR3B FDFT1 FH GALNT3 GALNTL5 GBA1 HK2 HSD11B1 HYAL1 IL1R1 IL1RAP INPP5A KDSR KL LGALS3 LSS LYZ MINPP1 MMUT MSMO1 NANS NTHL1 NTM OGG1 OLR1 PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCD1 PLD2 POFUT1 PPT1 PRSS8 PTEN PTGS2 SCD SDC4 SDHD SIRT6 SOAT1 SPHK2 SPTLC1 STS SUCLG1 TNF VCAM1	10558 10682 1116 11285 1555 1591 1608 1634 1636 168391 1718 189 2215 2222 2271 23509 239 242 2531 2591 2629 3099 3290 3373 3554 3556 3632 3958 4047 4069 412 4594 4913 4968 4973 50863 51548 5168 5209 5236 5290 5291 5293 5294 5321 5333 5338 54187 5538 5652 56848 57016 5728 5743 6307 6319 6385 6392 64377 6646 6785 684 7124 7412 8802 912 929 9331 9365 9415 952 9562 960	Homo sapiens (human)
DOID:8628	Hodgkin's lymphoma, lymphocytic depletion Aliases: Hodgkin lymphoma, lymphocyte depletion Hodgkin's disease, lymphocytic depletion Hodgkin's lymphocytic depletion of unspecified site Lymphocyte-Depleted Classical Hodgkin Lymphoma	ACE ACSBG1 ALG1 ALOX15 ALOX5 ANXA5 B3GAT1 CALR CD14 CD38 CD44 CDH13 CHI3L1 CLEC16A CYP2C9 CYP3A4 ENPP2 FCER2 FCGR3B FUT4 GAPDH GLO1 HABP4 HEXA HJV HPGDS HPSE ICAM1 ISYNA1 KDSR KL KLRK1 LGALS1 LGALS3 LGALS9 LIPC LPL LY6G6D LY75 MBL2 MICA MRC1 MUTYH NAAA NAMPT NCAM1 OGG1 OPCML PAFAH1B1 PC PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 RENBP SCD SDC1 SELL SIGLEC7 SIRT6 SMUG1 SOAT1 SPHK1 STS TM7SF2 UGT1A1	100507436 1012 10135 10855 1116 148738 1559 1576 1636 2208 2215 22914 22927 23205 23274 23583 240 246 2526 2531 2597 27036 27087 27163 27306 2739 3073 308 3383 3956 3958 3965 3990 4023 4065 412 4153 4360 4595 4684 4968 4978 5048 5091 51477 51548 5168 5290 5291 5293 5294 54658 56052 5728 5743 58530 5973 6319 6382 6402 6646 7108 811 8877 929 9365 952 960	Homo sapiens (human)
DOID:0110849	xeroderma pigmentosum group G Aliases: XP group G XP7 XPG xeroderma pigmentosum VII	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:0080200	bilateral renal aplasia	DHCR24 DHCR7 FREM1 GAS1 HS6ST1 NSDHL	158326 1717 1718 2619 50814 9394	Homo sapiens (human)
DOID:2626	choroid plexus papilloma Aliases: childhood choroid plexus papilloma	CAT CYP19A1 IGF2R TP53	1588 3482 7157 847	Homo sapiens (human)
DOID:0111135	congenital generalized lipodystrophy type 1 Aliases: Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell syndrome AGPAT2-related	AGL AGPAT1 AGPAT2 AGPS ATP6V0A2 ATP6V1A B4GALT7 CD38 DDOST DOLK FKTN FUCA1 GPC3 LPIN1 LPIN2 LPL PARP2 PCK1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PMM2 PNPLA2 SCD SDHA SMUG1 XYLT2	10038 10554 10555 11285 1650 178 2218 22845 23175 23545 23583 2517 2719 4023 5105 5130 523 5290 5291 5293 5294 5373 57104 6319 6389 64132 8540 952 9663	Homo sapiens (human)
DOID:4151	skull base chordoma Aliases: Chordoma of the Skull Base	LGALS3 LGALS9 PIK3CA PIK3CB PIK3CD PIK3CG	3958 3965 5290 5291 5293 5294	Homo sapiens (human)
DOID:0111029	hemochromatosis type 1 Aliases: HFE1 symptomatic form of HFE-related hereditary hemochromatosis symptomatic form of classic hemochromatosis symptomatic form of hemochromatosis type 1	ACO1 AKR1B1 AKR1D1 ALDH2 CALR CD14 FADS2 FUT1 FUT2 GNPAT GPC1 GPC3 GPC5 HJV HPGDS ICAM1 LGALS3 PIK3CA PIK3CB PIK3CD PIK3CG PNPLA3 SELE SELL STS SULT1E1 TUSC3 UGT1A1 VCAM1	148738 217 2262 231 2523 2524 2719 27306 2817 3383 3958 412 48 5290 5291 5293 5294 54658 6401 6402 6718 6783 7412 7991 80339 811 8443 929 9415	Homo sapiens (human)
DOID:0050889	non-syndromic intellectual disability	MAN1B1 TECR	11253 9524	Homo sapiens (human)
DOID:12835	quadriplegia Aliases: tetraplegia	ALDH3A2 ARSA COG2 COLGALT1 CYB5R3 DEGS1 ELOVL4 FUCA1 GAD1 GBE1 GLB1 GLYCTK PDHX PLA2G6 PNP POMT1 PRPS1 RPE ST3GAL5 SYNJ1	10585 132158 1727 224 22796 2517 2571 2632 2720 410 4860 5631 6120 6785 79709 8050 8398 8560 8867 8869	Homo sapiens (human)
DOID:8943	lattice corneal dystrophy Aliases: familial amyloid neuropathy, Finnish type	GCDH	2639	Homo sapiens (human)

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