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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 **6001 - 6025** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:2382	kernicterus Aliases: bilirubin encephalopathy	CAT CHAT G6PD UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	1103 2539 54575 54576 54577 54578 54657 54658 847	Homo sapiens (human)
DOID:0080950	alopecia-mental retardation syndrome 4	LSS	4047	Homo sapiens (human)
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	Axn Calr Lerp N Plod Sdc	31293 37447 39265 41166 43223 43565	Drosophila melanogaster (fruit fly)
DOID:1659	supratentorial cancer Aliases: Brain neoplasm, Supratentorial malignant Supratentorial tumor	IDH1	3417	Homo sapiens (human)
DOID:0110471	autosomal recessive nonsyndromic deafness 16 Aliases: DFNB16 autosomal recessive deafness 16	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	CDC19 DGA1 PYK2 ZWF1	851193 854419 854529 855480	Saccharomyces cerevisiae S288C
DOID:0110131	Bardet-Biedl syndrome 9 Aliases: BBS9	INPP5E PIGX	54965 56623	Homo sapiens (human)
DOID:3306	mixed germ cell cancer Aliases: mixed germ cell neoplasm mixed germ cell tumor mixed germ cell tumour mixed teratoma and seminoma	CYP17A1	1586	Homo sapiens (human)
DOID:3606	ovarian mucinous adenocarcinoma Aliases: mucinous carcinoma of Ovary	CD44	960	Homo sapiens (human)
DOID:8893	psoriasis	gba-3 gba-4	177314 178535	Caenorhabditis elegans
DOID:0080199	colorectal carcinoma	Chi3l1 Mapk14 Mbd4 Pik3ca Trp53	12654 17193 18706 22059 26416	Mus musculus (house mouse)
DOID:3304	germinoma	ACE AKR1C1 AKR1C3 ALPP AMACR ATRNL1 BRAF CALR CD44 CLEC10A CYP19A1 DHDH GOLPH3 GPC3 HPGDS IDH2 LGALS3 LIPG LPL PARP1 PCYT1A PIGF PIK3CA PIK3CB PIK3CD PIK3CG PRSS21 PSMD10 PTEN SLC2A3 SMUG1 TKTL1	10462 10942 142 1588 1636 1645 23583 23600 250 26033 2719 27294 27306 3418 3958 4023 5130 5281 5290 5291 5293 5294 5716 5728 64083 6515 673 811 8277 8644 9388 960	Homo sapiens (human)
DOID:14524	senile degeneration of brain Aliases: Senile brain degen.	ACSM3 ARSB B3GALNT2 B3GAT3 B3GLCT B4GAT1 CHST3 CNTN5 CNTN6 COMT CRPPA DAG1 DHCR24 EBP EOGT FIG4 FKRP FKTN GALC GBA1 GLDC GMPPB GPC3 GUSB IDS IDUA INPP5E L1CAM LARGE1 MBOAT7 MTM1 NT5E OGDH PAFAH1B1 PDHA1 PIK3CA PIK3CB PIK3CD PIK3CG POMGNT1 POMGNT2 POMK POMT1 POMT2 PTDSS1 PTEN RXYLT1 SFTPA1 SFTPA2 SFTPC SFTPD SLC17A5 SUMF1 UGCG	10329 10585 10682 11041 1312 145173 148789 1605 1718 2218 2581 26229 2629 26503 2719 27255 2731 285203 285362 2990 29925 29954 3423 3425 3897 411 4534 4907 4967 5048 5160 5290 5291 5293 5294 53942 55624 56623 5728 6296 6440 6441 653509 729238 729920 7357 79143 79147 84197 84892 9215 9469 9791 9896	Homo sapiens (human)
DOID:8552	chronic myeloid leukemia Aliases: CML CML - chronic Myelogenous Leukemia Myeloid Leukemia, chronic chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukemia chronic myeloid leukaemia	ABO ACACA ACE AGPAT2 AKR1C3 AKT1 ALOX5 ALPI ALPP ANXA5 B3GAT1 B4GALT1 CALR CAT CD14 CD177 CD33 CD38 CD44 CD55 CDH13 CEACAM5 CLEC12A CYP1A1 CYP2B6 CYP2C8 CYP3A4 CYP3A5 EBP ETNK1 FCGR3B FOLR2 FUT1 FUT4 FUT8 G6PD GPI GPX1 GPX3 GUSB HK2 HMGCLL1 HMMR HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IDH2 IL18R1 IL1RAP IMPA1 INPP5D INPPL1 KLRC1 LGALS3 LGALS9 LTA4H LTC4S MICA MRC1 NCAM1 PARP1 PCYT1A PFKFB3 PGP PI4K2B PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCD1 PRKAA2 PTEN PTGS1 PTGS2 SELL SFTPA1 SOAT1 ST3GAL1 ST8SIA1 ST8SIA4 TKT TKTL1 TPI1 UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UNG	100507436 1012 1048 10555 10682 10855 142 1543 1555 1558 1576 1577 160364 1604 1636 207 2215 2350 240 248 250 2523 2526 2530 2539 2683 27087 27306 28 2821 283871 2876 2878 2990 308 3099 31 3161 3251 3339 3383 3417 3418 3556 3612 3635 3636 3821 3958 3965 4048 4056 4360 4684 5130 5209 5290 5291 5293 5294 5315 5333 54511 54575 54576 54577 54578 54657 54658 55300 55500 5563 57126 5728 5742 5743 6402 6482 6489 653509 6646 7086 7167 7374 7903 811 8277 847 8644 8809 929 945 952 960	Homo sapiens (human)
DOID:4154	dentinogenesis imperfecta	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)
DOID:10763	hypertension Aliases: HTN hyperpiesia vascular hypertensive disorder	ABAT ABO ACACA ACADSB ACAT1 ACE ACO1 ACSM1 ACSM3 ACSS2 ADH1B ADRB3 AGPS AGXT AKR1A1 AKR1B1 AKR1C3 AKR1C4 AKT1 AKT2 ALDH2 ALDH7A1 ALOX12 ALOX15B ALOX5 AMACR AMY1A AMY1B AMY1C ANXA5 APRT ARSA ARSB ARSD ATP1A2 ATP6AP2 ATP6V0A2 B3GAT1 BAAT BAD BST1 CACNA2D1 CALR CAT CD14 CD38 CD44 CDH13 CERS5 CHGA CHI3L1 CHPT1 CHST12 CHST3 CLC CLEC16A CNTN3 CNTN4 CNTN5 COL9A2 COMT CTSA CYB5R3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2J2 CYP2R1 CYP3A4 CYP3A5 CYP4A11 CYP4A22 CYP4F2 CYP4F3 CYP4F8 CYP7A1 DAG1 DCN DEGS1 DLD DPAGT1 DPEP1 EBP ENO1 ENO2 ENO3 ENPP1 EPHX2 EXT2 FADS1 FASN FCN3 FIG4 G6PC1 G6PD GAD2 GAL3ST1 GALNT2 GBA1 GCK GGT1 GLA GLCE GLO1 GML GNPDA2 GOLPH3 GPC3 GPI GPX1 GPX3 GSK3B HJV HK2 HMGCS2 HPGDS HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSD3B1 HSD3B2 HSPG2 HTR2A ICAM1 IDH2 IDUA IL18RAP IL1R1 IL1RL1 IL6ST IMPA1 INPPL1 INS ISYNA1 KCNJ11 KCNQ1 KL LCT LDHA LEP LEPR LGALS1 LGALS2 LGALS3 LIPA LIPC LIPG LPCAT3 LPIN1 LPL LSS LYZ MACROD2 MBL2 MCAT MLYCD MPI MSLN NAMPT NPL NPY1R OGA OGG1 OLR1 PARP1 PC PCYT1A PFKFB3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD2 PKM PLA2G15 PLA2G4A PLA2G5 PLA2G7 PLCB3 PLCD1 PLCE1 PLCG1 PLD2 PMM2 PPARA PRKAA2 PRNP PRSS8 PTEN PTGDS PTGES2 PTGES PTGIS PTGS1 PTGS2 RBP4 REG3G RENBP RGN SACM1L SCD SDC1 SDHB SDHC SELE SELL SELP SEMA7A SFTPC SHMT1 SIRT2 SIRT6 SLC17A5 SLC2A10 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC33A1 SLC35A1 SLC35F3 SLC37A4 SLC39A8 SLC3A1 SLC5A1 SLC5A2 SMUG1 SORD SPHK1 SPHK2 SRGN ST3GAL4 ST8SIA4 STS SULF2 SULT1E1 TBXAS1 TM7SF2 TNF UCP2 UGCG UGT1A1 UMOD VCAM1 VNN1 XYLT1 XYLT2	1012 10135 10159 10162 10232 10327 10559 10682 10724 10855 1109 1113 1116 11283 116285 1178 120227 125 1298 130120 1312 132789 140733 142 148641 148738 152330 1543 1544 1545 155 1555 1557 1558 1559 1573 1576 1577 1579 1581 1583 1584 1585 1586 1588 1589 1591 1594 1605 1634 1636 1727 1738 1798 18 1800 189 2023 2026 2027 2053 207 208 2132 217 2194 22908 22933 231 23175 23274 23417 23545 23583 23600 23659 239 240 247 2538 2539 2542 2572 2590 26035 2629 2645 26503 2678 27087 2717 2719 27306 27349 2739 276 2765 277 278 28 2821 283871 284541 2876 2878 2932 308 3099 31 3158 3283 3284 3290 3291 3295 3339 3356 3383 3418 3425 353 3554 3572 36 3612 3630 3636 3767 3784 38 3938 3939 3952 3953 3956 3957 3958 3988 3990 3992 4023 4047 4051 4069 410 411 412 414 4153 4351 477 48 4886 4968 4973 501 5067 5091 51196 5130 51477 51548 5167 5209 5290 5291 5293 5294 5310 5311 5315 5321 5322 5331 5333 5335 5338 5373 53942 5465 54658 5476 55501 5552 5563 55902 55959 5621 5652 56848 56994 570 572 5728 5730 5740 5742 5743 5950 5973 60495 6296 6319 6382 6390 6391 6401 6402 6403 64083 64116 64131 64132 6440 6470 6484 6513 6514 6515 6517 6518 6519 6523 6524 6652 6783 683 6916 7108 7124 7351 7357 7369 7412 781 7903 7941 80142 80896 81031 811 847 8482 8529 8540 8547 8560 8644 8807 8876 8877 91012 9104 9173 9197 929 9365 9388 9469 9514 952 9536 960 9896	Homo sapiens (human)
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	Pigv	230801	Mus musculus (house mouse)
DOID:3963	thyroid gland carcinoma Aliases: head and neck cancer, Thyroid	ABO ACACA ACE AGK AGPS AKR1C2 ALOX12 ALOX15 AMACR ANXA5 APRT ARSA ASAH1 BAAT CAT CD1D CD44 CD74 CD93 CEACAM5 CNTN1 CYB5R3 CYP19A1 CYP1A1 CYP24A1 CYP27B1 CYP2B6 CYP3A4 DCN DPEP1 ENPP2 FH FUCA1 G6PD GAPDH GFRA1 GLB1 GPC3 GPD2 GPLD1 GPX1 GPX3 GUSB HPGDS HPRT1 HPSE HSPG2 ICAM1 IDH1 IDH2 IDUA IGF2R IL1R1 INPP4B KL KLB L1CAM LDHA LGALS16 LGALS1 LGALS3 MBL2 MICA MINPP1 MRC1 MUTYH NAMPT NCAM1 NTHL1 PARP1 PARP4 PFKFB3 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2R1 PRKAA2 PTEN PTGDS PTGES2 PTGES3 PTGS1 PTGS2 QPRT RECK RPIA SCD SDC1 SDC2 SDC4 SDHB SDHC SDHD SIRT4 SLC2A3 SMUG1 SOAT1 SORD SPHK1 TKTL1 ULBP2 UPP1 VCAN VTCN1	100507436 10135 1048 10728 10855 1272 142 143 1462 148003 152831 1543 1555 1576 1588 1591 1594 1634 1636 1646 1727 1800 2271 22918 22925 22934 23409 23475 23583 23600 239 246 2517 2539 2597 2674 2719 2720 27306 28 2820 2822 2876 2878 2990 308 31 3251 3339 3383 3417 3418 3425 3482 353 3554 3897 3939 3956 3958 410 4153 427 4360 4595 4684 4913 5168 5209 5290 5291 5293 5294 5315 5563 55750 570 5728 5730 5742 5743 6319 6382 6383 6385 6390 6391 6392 6515 6646 6652 7378 79679 80142 80328 8277 8434 847 8540 8821 8877 912 9365 9562 960 972	Homo sapiens (human)
DOID:0110787	hereditary spastic paraplegia 36 Aliases: SPG36 autosomal dominant spastic paraplegia 36 autosomal dominant spastic paraplegia type 36	B4GALNT1 CYP2B6 CYP2U1 CYP39A1 CYP7B1 FAR1 GBA2 L1CAM MAG PCYT2 PLA2G6 PNPLA6 SELENOI SLC33A1 ST3GAL5	10908 113612 1555 2583 3897 4099 51302 57704 5833 8398 84188 85465 8869 9197 9420	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:14179	X-linked agammaglobulinemia Aliases: BTK deficiency Bruton agammaglobulinemia tyrosine kinase deficiency Bruton disease Bruton's Sex-Linked Agammaglobulinemia Bruton's agammaglobulinaemia Bruton's type agammaglobulinemia Bruton-type agammaglobulinemia	Pik3r1	25513	Rattus norvegicus (Norway rat)
DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5 Aliases: MDDGA5 Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	fkrp	571426	Danio rerio (zebrafish)
DOID:2841	asthma Aliases: bronchial hyperreactivity chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with status asthmaticus	CTS2 GTT2 RHO1	850666 851977 856294	Saccharomyces cerevisiae S288C
DOID:1440	Machado-Joseph disease Aliases: Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3	ARSB GFPT1 GFPT2 PLA2G2A	2673 411 5320 9945	Homo sapiens (human)
DOID:0060041	autism spectrum disorder	ABAT ACACA ACAN ACSM3 ALDH1A3 AMT AMY1A AMY1B AMY1C ARSA ARSD B3GLCT BST1 CAT CD38 CDH13 CHAT CLEC7A CNTN2 CNTN4 CNTN5 CNTN6 COMT CS CYP11A1 CYP11B1 CYP11B2 CYP19A1 CYP1A2 CYP1B1 CYP27A1 CYP2C19 CYP2E1 CYP2R1 DGCR2 DHCR24 DHCR7 ELOVL2 ENO2 EPHX2 EXT1 FADS1 FADS2 FH FOLR1 FOLR2 GAD1 GAD2 GALNT17 GLO1 GLUL HAGH HPGDS HTR2A IDS IL1RAP IL1RAPL1 IL1RAPL2 L1CAM LDHB LYZ MACROD2 MBOAT7 MRC1 NCAM1 NDST1 NDST2 NDST3 NDST4 NTM OGG1 PAFAH1B1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKD2 PLA2G12A PLA2G4C PLAUR PLCB1 POMGNT1 PTEN PTGES3 PTGES PTGS1 PTGS2 RTN4R SCD SDC4 SLC25A12 SLC2A3 SLC33A1 SLC35A3 SOAT1 ST8SIA2 STS TM7SF2 TPI1 UGT1A1 UPP2	1012 10728 1103 11141 120227 1312 140733 1431 145173 151531 152330 1544 1545 1557 1571 1583 1584 1585 1588 1593 1717 1718 176 18 2026 2053 2131 220 2271 23236 23443 2348 2350 2571 2572 26280 27255 27306 2739 275 2752 276 277 278 3029 31 3340 3356 3423 3556 3897 3945 3992 4069 410 412 414 4360 4684 4968 5048 50863 5130 5290 5291 5293 5294 5311 5329 53942 54658 54898 55624 5728 5742 5743 6296 6319 6385 64409 64579 64581 65078 6515 6646 683 6900 7108 7167 79143 8128 81579 847 8509 8604 8605 9197 9348 9415 952 9536 9993	Homo sapiens (human)

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