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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 **7851 - 7875** of **7942** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050450	Gitelman syndrome Aliases: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA	PTGS2	5743	Homo sapiens (human)
DOID:0050448	white sponge nevus Aliases: hereditary mucosal leukokeratosis white sponge nevus of Cannon	ALDH2 CYP1A1 CYP1B1 CYP2E1 HPGDS LGALS1 LYZ OGG1 PTGS2	1543 1545 1571 217 27306 3956 4069 4968 5743	Homo sapiens (human)
DOID:0050445	X-linked dominant hypophosphatemic rickets Aliases: Hypophosphatemia, Vitamin D-Resistant Rickets Vitamin D-Resistant Rickets, X-Linked X-linked hypophosphatemia hypophosphatemic rickets X-linked dominant	CYP24A1 CYP27B1 ENPP1 KL L1CAM SFTPA1 SLC2A2	1591 1594 3897 5167 6514 653509 9365	Homo sapiens (human)
DOID:0050444	infantile Refsum disease Aliases: infantile phytanic acid storage disease	CAT GPD1 HSD17B4 SCP2	2819 3295 6342 847	Homo sapiens (human)
DOID:0050441	mucosulfatidosis Aliases: Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease	ARSA ARSH CAT SGSH STS SUMF1	285362 347527 410 412 6448 847	Homo sapiens (human)
DOID:0050440	familial partial lipodystrophy Aliases: Dunnigan Syndrome Koberling-Dunnigan Syndrome	AGL AGPAT2 LPL	10555 178 4023	Homo sapiens (human)
DOID:0050439	Usher syndrome	ALDH7A1 ARSG ASAH1 PLD4	122618 22901 427 501	Homo sapiens (human)
DOID:0050437	Danon disease Aliases: ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II	APRT	353	Homo sapiens (human)
DOID:0050433	fatal familial insomnia	CHI3L1 MDH1 PRNP	1116 4190 5621	Homo sapiens (human)
DOID:0050432	Asperger syndrome	ARSD SLC25A12	414 8604	Homo sapiens (human)
DOID:0050432	Asperger syndrome	aralar1	43616	Drosophila melanogaster (fruit fly)
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy Aliases: ARVC ARVC cardiomyopathy ARVD arrhythmogenic right ventricular dysplasia arrhythmogenic right ventricular dysplasia/cardiomyopathy right ventricular ACM	FASN GNPTAB HACD1 IL18R1 PIK3CA PIK3CB PIK3CD PIK3CG	2194 5290 5291 5293 5294 79158 8809 9200	Homo sapiens (human)
DOID:0050430	multiple endocrine neoplasia type 2A Aliases: MEN2A Sipple syndrome multiple endocrine neoplasia II	ABO ACE CEACAM5 FH FUT4 GFRA4 MCAT NTM PTEN SDHB SDHC SDHD	1048 1636 2271 2526 27349 28 50863 5728 6390 6391 6392 64096	Homo sapiens (human)
DOID:0050429	Hailey-Hailey disease Aliases: BENIGN CHRONIC PEMPHIGUS Pemphigus, Benign Familial	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0050428	nonepidermolytic palmoplantar keratoderma Aliases: Thost-Unna Syndrome Unna-Thost Syndrome diffuse nonepidermolytic palmomplantar keratoderma tylosis	ALOX12B CERS3 COG6 DOLK ENPP1 FKTN GMPPA KDSR PIGL PIGO PIK3CA PTEN SDHA SDHB SDHC SDHD SRD5A3	204219 2218 22845 242 2531 29926 5167 5290 5728 57511 6389 6390 6391 6392 79644 84720 9487	Homo sapiens (human)
DOID:0050427	xeroderma pigmentosum	CAT COMT CYP1B1 HPGDS HPRT1 OGG1 PTEN SMUG1 TALDO1 XYLT2	1312 1545 23583 27306 3251 4968 5728 64132 6888 847	Homo sapiens (human)
DOID:0050426	Stevens-Johnson syndrome	ACADS ACSS2 AKR1B1 ALOX5 CD33 CYP2B6 CYP2C19 CYP2C9 CYP3A4 FOLR1 FOLR2 HSPG2 MASP2 MICA PARP1 PLA2G15 PTGIS PTGS2 SDHD SGSH SLC17A5 TNF UPP1	100507436 10747 142 1555 1557 1559 1576 231 2348 2350 23659 240 26503 3339 35 55902 5740 5743 6392 6448 7124 7378 945	Homo sapiens (human)
DOID:0050426	Stevens-Johnson syndrome	Tnf	21926	Mus musculus (house mouse)
DOID:0050426	Stevens-Johnson syndrome	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:0050425	restless legs syndrome Aliases: WED Willis-Ekbom disease Wittmaack-Ekbom syndrome	ADH1B ATRN CHKB CNTN3 CPT1B GLO1 L1CAM NANS	1120 125 1375 2739 3897 5067 54187 8455	Homo sapiens (human)
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Mutyh	170841	Rattus norvegicus (Norway rat)
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	ABO ACSS2 ADH1C ALDH1A3 ALOX15 ALPP ANXA5 B3GNT6 BAAT CALR CBR1 CD44 CD55 CDH13 CEACAM5 CEACAM7 CHGA CLC CNTN1 CYP1B1 CYP3A4 DCN DHCR24 DLD DPEP1 ENPP7 FH FUT4 G6PD GALNT12 GCK GLB1 GUSB HPGDS ICAM1 KL KLRK1 LCT LGALS4 MICA MRC1 MUTYH NTHL1 OGG1 PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLB1 PLCG1 PLCG2 PRKAA2 PSMD10 PTEN PTGES PTGS1 PTGS2 PYGM RPE RPIA SDHA SDHB SLC2A2 SLC2A3 SMPD1 SMUG1 SOAT1 TNKS UGT1A3	100507436 1012 1048 1087 1113 1178 126 1272 142 151056 1545 1576 1604 1634 1718 1738 1800 192134 220 2271 22914 22934 23583 23659 246 250 2526 2539 2645 2720 27306 28 2990 308 3383 339221 3938 3960 4360 4595 4913 4968 5048 5130 5290 5291 5293 5294 5311 5319 5320 5321 5335 5336 54659 5563 55902 570 5716 5728 5742 5743 5837 6120 6389 6390 6514 6515 6609 6646 7941 79695 811 8398 8399 8658 873 9365 9536 960	Homo sapiens (human)
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Mutyh	70603	Mus musculus (house mouse)
DOID:0050424	familial adenomatous polyposis Aliases: adenomatous polyposis of the colon	Axn	43565	Drosophila melanogaster (fruit fly)
DOID:0050387	nonpapillary renal cell carcinoma	ACACA ACADM ACAT1 ACE ACHE ACLY ACOT7 ACSL1 ACSS2 ADH7 AKR1A1 AKR1C3 ALDH6A1 ALDH9A1 ALDOA ALDOB ALOX12 ALOX12B ALOX5 ALPI ALPP AMACR ANXA4 ANXA5 APRT ATRNL1 B3GALT6 B3GAT1 B4GALNT1 BST2 CA4 CALR CAT CD14 CD1D CD209 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM6 CEMIP CHI3L1 CHSY1 CLEC1B CMAS CRPPA CYP1A1 CYP1B1 CYP24A1 CYP27B1 CYP2R1 CYP3A5 DAG1 DCN EBP ECHS1 EFNA1 ENO1 ENO2 ENPP2 FBP1 FCGR3B FH FUT11 FUT3 FUT4 G6PC1 G6PD GAD1 GAL3ST1 GAPDH GAS1 GGT1 GNE GNPTAB GOLPH3 GPC3 GPI GPNMB GPX1 GPX3 HAO2 HAS1 HK2 HMMR HPGDS HPSE HSD17B6 ICAM1 IDH1 IDUA IL18R1 IMPA2 INPP4B KDSR KHK KL KLRC1 L1CAM L2HGDH LDHA LDHB LDHC LDHD LGALS1 LGALS3 LGALS8 LGALS9 LIPA LMAN2L LPCAT1 LY6G6D LYPD5 MAN1C1 MCAT MGAT5 MGAT5B MICA MMUT MRC1 MTAP NAMPT NDST1 NEU1 NT5E NUDT5 OGG1 OGT PAFAH1B1 PARP1 PDHB PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PISD PKM PLA2G15 PLA2R1 PLAUR PLD1 PLD2 PRKAA2 PSMD10 PTEN PTGS1 PTGS2 RGN SCD SDC3 SDHA SDHB SDHC SDHD SELE SELP SIRT2 SIRT6 SLC2A4 SLC2A5 SMUG1 SORD SPHK1 SPTLC1 ST3GAL2 ST3GAL4 ST8SIA4 STS SULF2 TIGAR TM7SF2 TMED3 TMED9 TUSC3 TYMP UGT1A1 VCAM1 VCAN VTCN1 XPNPEP2	10020 100507436 1012 10135 10327 10457 1048 10558 10682 10855 1116 11164 11332 120227 126792 131 142 1462 146664 1543 1545 1577 1591 1594 1605 1634 1636 170384 1890 1892 1942 197257 2023 2026 2180 2203 2215 223 226 2271 22856 229 22925 22933 23423 23583 23600 23659 23761 239 240 242 248 250 2525 2526 2531 2538 2539 2571 2583 2597 26033 2619 2678 27087 2719 27306 27349 2821 284348 2876 2878 2923 3036 307 308 30835 3099 31 3161 3340 3383 34 3417 3425 353 3613 3795 38 3821 3897 3939 3945 3948 3956 3958 3964 3965 3988 412 4249 43 4329 4360 4507 4594 4680 47 4758 4907 4968 5048 51179 51266 51548 5162 5168 5230 5290 5291 5293 5294 5315 5329 5337 5338 54658 54732 5563 55902 55907 55959 57103 57134 5716 57214 5728 5742 5743 58530 6319 6389 6390 6391 6392 6401 6403 64083 6483 6484 6517 6518 6652 684 7108 729920 7412 7512 762 7903 79158 79679 79888 7991 79944 811 81562 847 8473 8630 8644 8809 8821 8877 9104 912 929 9365 9514 952 960 9672 972	Homo sapiens (human)

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