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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 **526 - 550** of **4621** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:8454	riboflavin deficiency Aliases: ariboflavinosis vitamin B2 deficiency	AGXT	189	Homo sapiens (human)
DOID:0081243	rhizomelic chondrodysplasia punctate type 4	FAR1	84188	Homo sapiens (human)
DOID:2580	rhizomelic chondrodysplasia punctata Aliases: Chondrodysplasia Punctata, Rhizomelic Form	AGPS FAR1 GNPAT	84188 8443 8540	Homo sapiens (human)
DOID:0110853	rhizomelic chondrodysplasia punctata type 3 Aliases: Agps Deficiency Alkyldihydroxyacetonephosphate Synthase Deficiency Alkylglycerone-Phosphate Synthase Deficiency Rcdp3	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0110852	rhizomelic chondrodysplasia punctata type 2 Aliases: Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency Dhapat Deficiency Dihydroxyacetonephosphate Acyltransferase Deficiency Glyceronephosphate O-Acyltransferase Deficiency Gnpat Deficiency Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency Rcdp2	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:0110851	rhizomelic chondrodysplasia punctata type 1 Aliases: Pbd9 Peroxisome Biogenesis Disorder 9 Rcdp1	AGPS ARSH DHCR24 EBP FAR1 GNPAT HSD17B4 NSDHL STS SUMF1	10682 1718 285362 3295 347527 412 50814 84188 8443 8540	Homo sapiens (human)
DOID:4483	rhinitis	ACE CD14 HPGDS ICAM1 IL1RL1 LEP MBL2 PGP PTGDS SFTPD SIGLEC7 ST8SIA4 TLR2 TLR6 TNF	10333 1636 27036 27306 283871 3383 3952 4153 5730 6441 7097 7124 7903 9173 929	Homo sapiens (human)
DOID:7148	rheumatoid arthritis Aliases: Arthritis or polyarthritis, rheumatic atrophic Arthritis	ABO ACACA ACAN ACE ACOT7 ACSBG1 ADIPOQ ADRB3 AGPAT1 AKR1D1 ALDH1A3 ALOX12 ALOX5 ALPP AMACR ANXA4 ANXA5 APRT ASAH1 ATRNL1 B3GAT1 B3GNT9 B4GALT1 B4GALT7 CALR CAT CD109 CD14 CD1D CD209 CD22 CD248 CD38 CD44 CD48 CD55 CD74 CEMIP CHAT CHI3L1 CHID1 CHST3 CLEC10A CLEC12A CLEC16A CLEC1B CLEC4E CLEC6A CLEC7A CNTFR CNTN2 COG2 COG6 COL9A2 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP7B1 DGKQ DHCR7 DPEP1 EBP ENGASE ENO1 ENPP1 ENPP2 EXT1 FADS1 FADS2 FBXO2 FCER2 FCGR3B FCN1 FCN2 FOLR2 FUT4 GALNT18 GCK GDPD5 GFRA1 GLB1 GNS GPC1 GPC5 GPI GPLD1 GPX1 GUSB GYS1 HAGH HAS1 HAS3 HEXA HEXB HK1 HK2 HMMR HPGDS HPRT1 HPSE HSD11B1 HSD11B2 HSD17B6 HSD17B8 HTD2 HYAL2 ICAM1 IGF2 IL18R1 IL18RAP IL1R1 IL1RAP IL1RAPL1 IL6ST INPP5D ISYNA1 KAT2B KL KLRB1 KLRC1 KLRD1 KLRK1 LCAT LGALS1 LGALS2 LGALS3 LGALS8 LGALS9 LPIN2 LY6G6D LYZ MASP1 MASP2 MBD4 MBL2 MDGA2 MGAT5 MICA MMP17 MMP25 MPG MRC1 MTMR3 MUTYH NAMPT NCAM1 NDST1 NEU1 NT5E OGG1 OLR1 OS9 PARP1 PARP2 PARP9 PCYT1A PDIA3 PFKFB3 PGK1 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G7 PLAUR PLB1 PLCG2 PLD1 PLD3 PLD4 PNPLA2 PTEN PTGES PTGS1 PTGS2 RECK RGMB SACM1L SCD5 SCD SDC1 SDC2 SDC3 SDC4 SELE SELL SELP SEMA7A SFTPA2 SFTPD SIGLEC1 SIGLEC7 SIGLEC9 SIRT6 SLC17A5 SLC2A3 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 ST6GAL1 ST6GALNAC5 STS TM7SF2 TNF TPI1 TREH TYMP UGCG UGT1A10 UGT1A4 UGT1A6 UGT1A7 UGT1A8 UNG VCAM1 VTCN1	10038 100507436 10135 10462 10554 10682 10747 10855 10956 109703458 1103 11141 1116 11181 11285 11332 120227 122618 1271 1298 135228 142 151056 1543 1544 155 1555 1557 1571 1576 1577 1586 1588 1589 160364 1604 1609 161357 1636 1717 176 1800 1890 2023 2131 220 2208 2215 2219 2220 2262 22796 22908 22914 23205 23274 2350 23583 23600 23646 239 240 250 2526 26033 26232 26253 2645 26503 2674 2683 27036 27087 27180 2720 27306 2799 28 2817 2821 2822 285704 2876 2923 2990 2997 3029 3036 3038 307 3073 3074 308 30835 3098 3099 31 3161 3251 3290 3291 3340 3383 3481 353 3554 3556 3572 3635 374378 3820 3821 3824 3931 3956 3957 3958 3964 3965 3992 4069 412 4153 4249 427 4326 4350 4360 4595 4684 4758 4907 4968 4973 51266 5130 51477 51548 5167 5168 5209 5230 5236 5290 5291 5293 5294 5310 5319 5320 5321 5329 5336 5337 54575 54576 54577 54578 54657 5648 56848 57104 57124 57214 5728 5742 5743 57511 58530 6319 6382 6383 6385 6401 6402 6403 64386 6441 64581 64772 6480 6515 66005 6609 6614 6646 6718 6900 7108 7124 7167 729238 7357 7374 7412 7923 7941 79679 79966 811 81544 81849 83666 8399 8434 847 84752 8482 8630 8692 8807 8809 8850 8877 8897 8930 912 929 933 9365 9370 93978 9415 9420 9469 952 9536 960 962 9663 9672 972	Homo sapiens (human)
DOID:8481	rheumatic myocarditis Aliases: Rheumatic degeneration of myocardium Rheumatic fever with myocarditis Rheumatoid myocarditis active rheumatic fever with myocarditis acute rheumatic carditis acute rheumatic myocarditis	ICAM1 SELE VCAM1	3383 6401 7412	Homo sapiens (human)
DOID:0050827	rheumatic heart disease Aliases: rheumatic carditis	CD209 GAPDH	2597 30835	Homo sapiens (human)
DOID:1586	rheumatic fever Aliases: ACUTE RHEUMATIC FEVER RhF - Rheumatic fever	ABO FCGR3B FCN1 FCN2 GALNS ICAM1 IDH1 MASP2 MBL2 PARP1 PIK3C3 PTEN	10747 142 2215 2219 2220 2588 28 3383 3417 4153 5289 5728	Homo sapiens (human)
DOID:3247	rhabdomyosarcoma	ALPI ALPP CEACAM5 CEACAM7 CYP2B6 DAG1 ENO2 G6PD GLB1 GOLPH3 GPC3 GPC5 HPSE ICAM1 IL1R1 LARGE1 LGALS3 NANS NEU2 PARP1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PTEN PTGS2 RGN SIRT2 SMUG1 ST8SIA2 ST8SIA4 SYNJ1	1048 10855 1087 142 1555 1605 2026 2262 22933 23583 248 250 2539 2719 2720 283871 3383 3554 3958 4759 5290 5291 5293 5294 54187 57104 5728 5743 64083 7903 8128 8867 9104 9215	Homo sapiens (human)
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTGS2 SMUG1	23583 2719 5290 5291 5293 5294 5743	Homo sapiens (human)
DOID:12341	retroperitoneal sarcoma	ACSS2 PLA2G15 SMUG1	23583 23659 55902	Homo sapiens (human)
DOID:4543	retrograde amnesia	ACHE ACSF3 ALOX5 ARSA ARSD CAT CD44 CD74 CHAT CHI3L1 COMT CPT1A CYP1A2 CYP1B1 ELOVL3 FKRP FUT10 GAD1 GLUL GNE GPX1 HGSNAT HSD11B1 HSD11B2 IDS INPPL1 KL LGALS3 LGALS4 MYORG NAGLU NT5E OGA PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PLA2G6 PLD1 PLD2 PPT1 PRKAA2 PRNP PSAP PTEN PTGS1 PTGS2 SDHD SFTPA1 SLC17A5 SMPD1 SMUG1 SPHK2 ST3GAL4 STS SUCLA2 SYNJ1 UGT1A1	10020 10724 1103 1116 1312 1374 138050 142 1544 1545 197322 23583 240 2571 26503 2752 2876 3290 3291 3423 3636 3958 3960 410 412 414 43 4669 4907 5290 5291 5293 5294 5315 5321 5337 5338 54658 5538 5563 5621 5660 56848 5728 5742 5743 57462 6392 6484 653509 6609 79147 83401 8398 847 84750 8803 8867 9365 960 972	Homo sapiens (human)
DOID:2889	retrocochlear disease	SUCLA2	8803	Homo sapiens (human)
DOID:8465	retinoschisis	RPE	6120	Homo sapiens (human)
DOID:13025	retinopathy of prematurity Aliases: Retrolental fibroplasia premature retinopathy	ACE CAT EPHX2 FCN2 HPSE ICAM1 LGALS1 MCAT PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 TM7SF2 TMED5	10855 1636 2053 2220 27349 3383 3956 50999 5290 5291 5293 5294 57104 5716 7108 847	Homo sapiens (human)
DOID:768	retinoblastoma Aliases: RB RB - Retinoblastoma neuroblastoma of Retina	APRT ASAH1 CBR3 CD177 CD44 CDH13 CEACAM5 CEACAM7 CEMIP CYP24A1 CYP27B1 EBP EFNA2 ENO1 ENO2 FASN FOLR1 FUT7 GLB1 GPC6 GPI HPGDS ICAM1 IDH1 IDH2 IGF2R KLRK1 L1CAM LDHA LGALS3 LIPG MICA MMUT MPG MTAP NCAM1 PGP PIGF PIK3CA PIK3CB PIK3CD PIK3CG PNPLA2 PSMD10 PTEN PTGES3 PTGS2 RENBP RPE SDHD SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1591 1594 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 427 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 57126 5716 57214 5728 5743 5973 6120 6392 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:3612	retinitis	ACE AGXT AKR1B1 ALDH2 ALDH3A2 ALOX12 B3GAT1 CALR CAT CD44 CD74 CEL CHAT CHI3L1 CTNS CYP1B1 CYP2C19 CYP2C9 DCN DDOST ENPP1 GAD2 GCK GLO1 GLUL GM2A GNPTAB GUSB HADHA HEXB HPSE ICAM1 IDUA ISYNA1 KL LGALS1 NEU1 NYX PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G6 PLA2G7 PLD2 PNPLA2 POMGNT1 PTGS2 RPE SELE SIRT4 SPHK2 ST3GAL4 STS SULT1E1 TM7SF2 VCAM1	1056 10855 1103 1116 142 1497 1545 1557 1559 1634 1636 1650 189 217 224 231 23409 239 2572 2645 27087 2739 2752 2760 2990 3030 3074 3383 3425 3956 412 4758 51477 5167 5290 5291 5293 5294 5338 55624 56848 57104 5743 60506 6120 6401 6484 6783 7108 7412 79158 7941 811 8398 847 9365 960 972	Homo sapiens (human)
DOID:0110829	retinitis pigmentosa-deafness syndrome	ARSG ASAH1 PLD4	122618 22901 427	Homo sapiens (human)
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABO ACE ACOX1 ADH7 ALDH3A2 ALDH7A1 ALG12 AMACR ARSI BCAN CA4 CANX CAT CD44 CD74 COG4 CTNS DGKE DHDDS ECHS1 ELOVL4 ELOVL6 FASN FKRP G6PD GK GLO1 GMPPB GNPTG HADH HADHA HADHB HGSNAT HK1 HK2 HKDC1 HSD17B6 IDH2 IDH3A IDH3B IMPA1 KL LARGE1 LPCAT1 MDH1 NAGLU NGLY1 NYX PDHA1 PMM2 PNPLA2 PNPLA6 POMGNT1 POMT1 POMT2 PRNP PRPS1 PTEN RPE SDHA SDHB SDHD SFTPD SGSH SMC3 SYNJ1 TMED3	10585 10908 131 138050 1497 1636 1892 2194 224 23423 23600 2539 25839 2710 2739 28 29925 29954 3030 3032 3033 3098 3099 340075 3418 3419 3420 3612 4190 4669 501 51 5160 5373 55624 55768 5621 5631 57104 5728 60506 6120 63827 6389 6390 6392 6441 6448 6785 762 79071 79087 79147 79888 79947 80201 821 84572 847 8526 8630 8867 9126 9215 9365 960 972	Homo sapiens (human)
DOID:0112147	retinitis pigmentosa 90 Aliases: RP90	IDH3A	3419	Homo sapiens (human)
DOID:0110387	retinitis pigmentosa 9 Aliases: RP9	LPIN1	23175	Homo sapiens (human)
DOID:0110389	retinitis pigmentosa 73 Aliases: RP73	HGSNAT	138050	Homo sapiens (human)

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