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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 **1376 - 1400** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:1891	optic nerve disease Aliases: disorder of the second nerve optic nerve disorder optic neuropathy	ACO1	851013	Saccharomyces cerevisiae S288C
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	Pigv	366478	Rattus norvegicus (Norway rat)
DOID:0050486	exanthem	ALPP BST2 CD44 CLEC7A CYP27B1 CYP2C9 CYP2E1 ENO1 ENOSF1 ENPP1 GLUL HPGDS IDH1 IDH2 KDSR LACC1 LDHB LGALS3 LGALS9 LYZ PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SDHA SDHB SDHC SDHD SIRT6 SMUG1 TPI1	144811 1559 1571 1594 2023 23583 250 2531 27306 2752 3417 3418 3945 3958 3965 4069 51548 5167 5290 5291 5293 5294 55556 5728 5743 6389 6390 6391 6392 64581 684 7167 960	Homo sapiens (human)
DOID:0040085	bacterial sepsis	AACS ABO ACAT1 ACE ACHE ACOD1 ACOT8 ACSL1 ACSL4 ACSM3 ACSS2 ALDH2 ALOX12 ALOX12B APRT ARSA ATP6V0A2 BAAT BCKDHA CALR CAT CD14 CD177 CD22 CD38 CD44 CD74 CHI3L1 CHIT1 CLEC1B CLEC7A COLEC11 CS CYP1A1 CYP1A2 CYP2C8 CYP2E1 CYP2J2 CYP4F3 DHCR24 DLD ENO2 EXTL3 FASN FCGR3B FCN2 FUT4 G6PC3 G6PD GALNS GALT GAPDH GLUL GPX3 HPRT1 HSD11B2 ICAM1 IL1RL1 ISYNA1 KL KLRC1 LGALS1 LGALS3 LIPC MASP1 MASP2 MBL2 MGLL MMUT MRC1 NAAA NAMPT PARP1 PC PFKFB3 PGM3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G15 PLA2G1B PLA2G2A PLA2G4A PLA2G7 PLAUR PLB1 PLCG1 PLD1 PNPLA2 PRKAA2 PSAP PSMD10 PTEN PTGS2 PYGM SARM1 SDC1 SELL SELP SFTPA1 SFTPA2 SFTPD SGMS2 SIRT2 SIRT6 SLC2A4 SLC39A8 SLC5A1 SMPD1 SOAT1 SPHK1 SPTLC3 STS SULF1 SULT1E1 SULT2B1 TM7SF2 TMED3 UGT1A1 VCAM1	10005 10135 10747 1116 1118 11343 142 1431 151056 1543 1544 1558 1571 1573 1636 166929 1718 1738 2026 2137 217 2180 2182 2194 2215 2220 22933 23098 23213 23423 23545 23659 239 242 2526 2539 2588 2592 2597 27163 2752 28 2878 3251 3291 3383 353 38 3821 3956 3958 3990 4051 410 412 4153 43 4360 4594 5091 51266 51477 51548 5209 5238 5290 5291 5293 5294 5310 5315 5319 5320 5321 5329 5335 5337 54658 55304 5563 55902 5648 5660 570 57104 57126 5716 5728 5743 5837 593 6296 6382 6402 6403 64116 6441 64581 6517 6523 653509 65985 6609 6646 6783 6820 7108 729238 730249 7412 78989 7941 811 8399 847 8877 9173 92579 929 933 9365 952 960 972	Homo sapiens (human)
DOID:9253	gastrointestinal stromal tumor Aliases: GANT GIST Stromal tumor of gastrointestinal tract Stromal tumour of gastrointestinal tract gastrointestinal stromal tumour	ALDH7A1 AMACR ANXA5 CD14 CD44 CD55 CMAS CYP1A2 CYP1B1 CYP2C8 EPHX2 FASN HSD11B1 L1CAM LDHA LYZ MCAT MGLL MTAP NCAM1 NDST1 PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PKM PLCB4 PTEN PTGS2 SDHA SDHB SDHC SDHD SELP SLC2A4 SMUG1 SOAT1 SORD TKTL1 VCAN	11343 1462 1544 1545 1558 1604 2053 2194 23583 23600 27349 308 3290 3340 3897 3939 4069 4507 4684 501 5286 5290 5291 5293 5294 5315 5332 55907 5728 5743 6389 6390 6391 6392 6403 6517 6646 6652 8277 929 960	Homo sapiens (human)
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	Trp53	22059	Mus musculus (house mouse)
DOID:10690	mastitis Aliases: Inflammatory breast disease Inflammatory disease of breast breast inflammation	ABO AMACR B4GALT1 CD14 CRLS1 CYP1A1 CYP24A1 CYP2R1 DGAT1 GALNS LPL LYZ PLA2G1B PLB1 SCD SFTPA1 SLC26A2 TLR4	120227 151056 1543 1591 1836 23600 2588 2683 28 4023 4069 5319 54675 6319 653509 7099 8694 929	Homo sapiens (human)
DOID:10175	optic papillitis Aliases: papillitis	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)
DOID:468	intramuscular hemangioma Aliases: Intramuscular Angioma	C1GALT1C1 CALR CD14 CTSA DPM1 GAS1 GPC6 HSD17B2 IDH1 IDH2 IGF2R IL18R1 LGALS9 MAG PIGF PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PNPLA2 PNPLA6 PTEN SDHD	10082 10908 2619 29071 3294 3417 3418 3482 3965 4099 5281 5290 5291 5293 5294 5310 5476 57104 5728 6392 811 8809 8813 929	Homo sapiens (human)
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	ogt.L	447694	Xenopus laevis (African clawed frog)
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	ACE CD44 CHIA CPM PTEN PTGS2 SDC2 SELL SFTPD TM7SF2 TNF	1368 1636 27159 5728 5743 6383 6402 6441 7108 7124 960	Homo sapiens (human)
DOID:0060415	chromosome 2p16.1-p15 deletion syndrome Aliases: 2p15p16.1 microdeletion syndrome	CYP11A1 FREM1 PAFAH1B1 PRNP	1583 158326 5048 5621	Homo sapiens (human)
DOID:0050885	IMAGe syndrome Aliases: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities	SGPL1	8879	Homo sapiens (human)
DOID:0110509	autosomal recessive nonsyndromic deafness 53 Aliases: DFNB53 autosomal recessive deafness 53	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:0050567	orofacial cleft	ACSS2	55902	Homo sapiens (human)
DOID:0110159	Charcot-Marie-Tooth disease type 2B Aliases: CMT2B Charcot-Marie-Tooth neuropathy type 2B HMSN IIB HMSN2B autosomal dominant Charcot-Marie-Tooth disease type 2B hereditary motor and sensory nueropathy IIB	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)
DOID:13272	Klebsiella pneumonia Aliases: Pneumonia due to Klebsiella pneumoniae Pneumonia due to Klebsiella pneumoniae (disorder)	CD44 GPX1 MBL2	2876 4153 960	Homo sapiens (human)
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	ACE ACER3 ACHE ACO1 ACSL3 AKR1B10 ALDH1A3 ALDH3A1 ALDH7A1 ALOX12 ALOX5 ALPI ALPP AMACR ANXA5 ANXA7 ANXA9 APRT ARSB ART3 ASAH1 B3GAT1 B4GALNT1 BRAF BST2 CALR CANX CAT CD14 CD1D CD22 CD248 CD38 CD44 CD74 CDH13 CEACAM5 CEACAM7 CERS2 CERS6 CH25H CHI3L1 CLEC10A CLEC14A CLEC1B CMAS CPT1A CPT1C CRYBG1 CSGALNACT1 CSPG4 CYP19A1 CYP1B1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2E1 CYP2R1 DBT DERA DGKA DGKI DHCR24 EBP ECHDC1 EDEM1 EFNA1 ELOVL2 ENO2 ENPP1 FASN FCGR3B FDFT1 FDPS FOLR2 FUT1 FUT2 FUT4 FUT8 G6PD GALC GALNT14 GALNT3 GAPDH GAPDHS GAS1 GBE1 GCNT2 GCNT3 GFRA1 GGT1 GLB1 GLO1 GLT8D1 GNS GOLPH3 GPAM GPAT2 GPC3 GPC6 GPLD1 GPNMB GPX1 GPX3 HADHB HAS2 HAS3 HK1 HMGCL HPGDS HPRT1 HPSE HS2ST1 HS3ST5 HSD11B1 HSD11B2 HSD17B12 HSPG2 HYAL2 ICAM1 IDH1 IDH2 IDUA IGF2R IL18R1 IL1RAPL1 INPP4B INPP5D INPP5E INPP5K ISYNA1 KL KLRB1 KLRC1 KLRK1 L1CAM LDHA LGALS1 LGALS3 LGALS9 LIPA LTA4H LYPD5 LYPLA1 LYPLA2 MAG MCAT MDH2 MELTF MGAT5 MGLL MICA MMP25 MOGS MPG MPPE1 MRC1 MTAP MUTYH NAMPT NCAM1 NEU1 NGLY1 NT5E OGG1 OS9 PARP1 PC PCK2 PCYT1A PDHB PDIA3 PFKFB2 PFKFB3 PFKFB4 PGK1 PIGU PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2A PKD1 PKM PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLAUR PLCB2 PLCB4 PLD1 PNP PNPLA2 PPARGC1A PPP1R3B PRKAA2 PRNP PSMD10 PTEN PTGDS PTGES PTGS1 PTGS2 PYGM RECK RPE RTN4R SCD5 SCD SDC1 SDC2 SDC4 SDHA SDHB SDHC SDHD SELE SELL SEMA7A SGMS1 SIGLEC1 SIGLEC7 SIGLEC9 SIRT2 SIRT6 SLC17A5 SLC2A2 SLC2A3 SLC33A1 SMPD1 SMUG1 SOAT1 SPAM1 ST3GAL4 ST6GALNAC2 ST8SIA1 STS SULF1 TKTL1 TLR4 TMED5 TNFRSF10C TP53 TPI1 UGT8 VCAM1 VCAN VTCN1	100507436 10082 1012 10135 10434 10457 10462 1048 10610 10682 10855 1087 10891 10956 11141 1116 11313 11343 120227 126129 128869 1374 142 1462 1464 150763 1545 1555 1571 1588 1589 1591 1594 1606 161198 1629 1636 1718 1942 202 2026 218 2181 2194 220 2215 2222 2224 222537 22914 22933 23213 2350 23583 23600 239 240 248 250 2523 2524 2526 2530 253782 2539 2581 2583 2591 259230 2597 2619 2632 26330 26503 2651 2674 2678 27036 27087 27180 2719 2720 27306 27349 2739 2799 2822 284348 2876 2878 2923 29956 3032 3037 3038 308 3098 310 3155 3251 3290 3291 3339 3383 3417 3418 3425 3482 353 3635 3820 3821 3897 3939 3956 3958 3965 3988 4048 4099 411 412 419 4191 4241 4249 427 43 4350 4360 4507 4595 4684 4758 48 4860 4907 4968 501 5091 50999 5106 51071 51144 51266 5130 51477 51548 5162 5167 51763 5208 5209 5210 5230 5289 5290 5291 5293 5294 5305 5310 5315 5319 5320 5321 5329 5330 5332 5337 54898 55331 5563 55768 55790 55830 55862 55907 5621 56623 57016 57104 57124 5716 5728 5730 5742 5743 57678 5837 6120 6319 6382 6383 6385 6389 6390 6391 6392 6401 6402 64083 64386 6484 6489 65078 6514 6515 65258 6609 6614 6646 6677 673 684 7099 7157 7167 7368 7412 7841 79623 79660 79679 79966 811 821 8277 8398 8416 8434 847 8482 8692 8794 8809 8821 9023 912 9162 9197 9245 929 933 9365 952 9536 960 9653 9695 972	Homo sapiens (human)
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	ugt1a1	100489505	Xenopus tropicalis (tropical clawed frog)
DOID:0080153	medium chain acyl-CoA dehydrogenase deficiency	Acadm	11364	Mus musculus (house mouse)
DOID:10811	nasal cavity cancer Aliases: malignant neoplasm of nasal cavities malignant tumor of the nasal cavity	TP53	7157	Homo sapiens (human)
DOID:1768	conversion disorder Aliases: Conversion Hysterical Neurosis Conversion hysteria or reaction Hysterical neurosis, conversion type	ABO ACHE COMT MMUT PIK3CA PRNP	1312 28 43 4594 5290 5621	Homo sapiens (human)
DOID:14686	Axenfeld-Rieger syndrome Aliases: Anomaly, Rieger's Axenfeld syndrome RGS - Rieger syndrome Rieger's anomaly	B3GLCT CRPPA CYP1B1 FKRP FKTN LARGE1 POMT1 POMT2 PTGDS	10585 145173 1545 2218 29954 5730 729920 79147 9215	Homo sapiens (human)
DOID:0080572	congenital disorder of glycosylation Iw Aliases: congenital disorder of glycosylation 1w	Stt3a Stt3b	16430 68292	Mus musculus (house mouse)
DOID:1143	exotropia Aliases: Divergent Strabismus Divergent concomitant strabismus	ACADSB DPAGT1 HADHA NGLY1 PIGQ PRPS1 SLC17A5 SLC35A2	1798 26503 3030 36 55768 5631 7355 9091	Homo sapiens (human)

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