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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 **201 - 225** of **4621** in total

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Disease ID ▼	Disease Name	Gene Symbol	Gene ID	Organism
DOID:906	peroxisomal disease Aliases: peroxisomal disorder	ACOX1 AMACR CAT DHRS11 HADH HSD17B4 HSD17B7	23600 3033 3295 51 51478 79154 847	Homo sapiens (human)
DOID:905	Zellweger syndrome Aliases: cerebrohepatorenal syndrome congenital iron overload	ACAA1 ACOX2 AGPS CAT GNPAT GPD1 HSD17B4 HSD17B7 PAFAH1B1 SCP2	2819 30 3295 5048 51478 6342 8309 8443 847 8540	Homo sapiens (human)
DOID:9042	polyp of corpus uteri Aliases: endometrial/uterine polyp polyp of Endometrium polyp of the Uterus polyp, uterus	CYP19A1 PTEN PTGS2 SDC1	1588 5728 5743 6382	Homo sapiens (human)
DOID:9008	psoriatic arthritis Aliases: arthritis psoriatica arthropathic psoriasis	ACACA ACADM ACE APRT CD14 CD248 CD38 CPT1A CPT2 CYP11B2 CYP1A1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 DLAT ELOVL6 FADS2 FCGR3B FUT1 KLRB1 MBL2 MICA PCCA PCCB PFKFB3 PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G4A PTGS1 PTGS2 SELL SFTPA2 SIRT6 SLC2A4 TNF UGCG XYLT2	100507436 1374 1376 1543 1555 1557 1585 1589 1591 1593 1594 1636 1737 2215 2523 31 34 353 3820 4153 5095 5096 51548 5209 5236 5290 5291 5293 5294 5315 5321 57124 5742 5743 6402 64132 6517 7124 729238 7357 79071 929 9415 952	Homo sapiens (human)
DOID:9007	sudden infant death syndrome Aliases: Cot death Crib death SIDS Sudden death of nonspecific cause in infancy	ACADM B3GAT1 CD14 CHAT CPT1A CYP1A1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP4F3 EPHX2 FUT2 G6PC1 GPD1L HADHA HPGDS IDS MBL2 PIK3CA PRNP SFTPD SI SLC37A4	1103 1374 1543 1555 1557 1558 1559 2053 23171 2524 2538 2542 27087 27306 3030 34 3423 4051 4153 5290 5621 6441 6476 929	Homo sapiens (human)
DOID:900	hepatopulmonary syndrome	GBA1 PTEN PTGS2 TNF	2629 5728 5743 7124	Homo sapiens (human)
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	ACAN ADH1B CD74 COL9A2 COMT DGCR2 GAS1 GPC6 GSK3B ICAM1 IDH1 IDH2 IL18RAP LDHA LGALS3 PGP PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 SIRT2 SIRT6 SRGN SULF1 TIGAR XYLT1	10082 125 1298 1312 176 22933 23213 2619 283871 2932 3383 3417 3418 3939 3958 51548 5290 5291 5293 5294 5552 57103 5728 5743 64131 8807 972 9993	Homo sapiens (human)
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	ACE ACO1 ACSL6 AKR1C4 ALOX5 BPGM CALR CAT CD177 CD33 CD38 CEL CH25H CHI3L1 CHIT1 CYB5R3 CYP1A1 CYP2B6 ENPP1 FH FUT1 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 ISYNA1 LGALS1 LGALS3 LPL PCYT1A PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKLR PLAUR PTEN SDC1 SMUG1 SOAT1	1056 1109 1116 1118 1543 1555 1636 1727 2271 23305 23583 240 2523 2539 27306 3383 3417 3418 3956 3958 4023 48 5130 51477 5167 5277 5290 5291 5293 5294 5313 5329 57126 5728 6382 6646 669 811 847 8809 9023 945 952	Homo sapiens (human)
DOID:8991	cervix uteri carcinoma in situ Aliases: CIN III CIN III - carcinoma in situ of cervix CIN III - severe dyskaryosis Cervix Ca in situ Severe Dysplasia of the Cervix Uteri Severe dysplasia of cervix carcinoma in situ of cervix carcinoma in situ of uterine cervix carcinoma of cervix stage 0 cervical intraepithelial neoplasia grade III with severe dysplasia squamous intraepithelial neoplasia, grade III	ACE ACSL1 AGK AKR1B10 APRT CACNA2D2 CALR CANX CAT CD44 CEACAM5 CYP1A1 CYP2B6 CYP2E1 EXT1 HACD1 HPGDS HPSE HS3ST2 KLRD1 KLRK1 LGALS3 LGALS9 LIPA LPIN1 MASP2 MBL2 MICA MMUT MPG MUTYH OGG1 PARP1 PDIA3 PIK3CA PLAUR PTEN PTGS2 SDHD SMUG1 ST6GALNAC5 ST8SIA4 STS SULF1 VTCN1	100507436 1048 10747 10855 142 1543 1555 1571 1636 2131 2180 22914 23175 23213 23583 27306 2923 353 3824 3958 3965 3988 412 4153 4350 4594 4595 4968 5290 5329 55750 57016 5728 5743 6392 7903 79679 811 81849 821 847 9200 9254 960 9956	Homo sapiens (human)
DOID:899	choledochal cyst Aliases: Congenital choledochal cyst bile duct cyst biliary cyst	CD14 SMUG1	23583 929	Homo sapiens (human)
DOID:8986	narcolepsy Aliases: Narcolepsy, without cataplexy paroxysmal sleep	ACE ACHE ALDH7A1 ARSB CD38 CD44 CH25H CHAT CHKB COLGALT1 COMT CPT1B CYP1A2 CYP2B6 CYP2C9 CYP3A4 EBP ECHS1 EPM2A GAD2 GALNT14 GLB1 GPC5 HS6ST3 ICAM1 IDH2 IDS IDUA MBL2 MDGA2 MGAT1 MGLL NCAM1 NDST3 NYX PARP1 PIK3CD PLB1 PRNP PTEN RTN4R SGSH SLC17A5 SUMF1 UGCG	10682 1103 1120 11343 1312 1375 142 151056 1544 1555 1559 1576 161357 1636 1892 2262 2572 26503 266722 2720 285362 3383 3418 3423 3425 411 4153 4245 43 4684 501 5293 5621 5728 60506 6448 65078 7357 7957 79623 79709 9023 9348 952 960	Homo sapiens (human)
DOID:898	autosomal dominant polycystic kidney disease Aliases: ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	ACE ALG8 ALG9 APRT ARF4 B3GLCT CALR CD14 COMT CPT2 CYP4A11 DCN DHCR7 GANAB GLA GPC3 HAGH INPP5E KL LGALS3 LRP5 PGD PGP PIGN PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKD1L2 PKD1L3 PKD2 PLA2G4A PLCG1 PMM2 PRKAA2 PRKCSH PTGS1 PTGS2 SELE SEMA7A SMC3 SMUG1 SOAT1 UMOD XYLT2	114780 1312 1376 145173 1579 1634 1636 1717 23193 23556 23583 2717 2719 283871 3029 342372 353 378 3958 4041 5226 5290 5291 5293 5294 5310 5311 5321 5335 5373 5563 5589 56623 5742 5743 6401 64132 6646 7369 79053 79796 811 8482 9126 929 9365	Homo sapiens (human)
DOID:8970	subacute sclerosing panencephalitis Aliases: Immunosuppressive measles encephalitis Van Bogaert's sclerosing leukoencephalitis subacute sclerosing leukoencephalopathy	ACE CD38 GLO1 PGM3 SDC1	1636 2739 5238 6382 952	Homo sapiens (human)
DOID:8956	cowpox Aliases: yaba	ABO CYB5R3 FCN2 IL18R1	1727 2220 28 8809	Homo sapiens (human)
DOID:8955	sideroblastic anemia Aliases: ANEMIA SIDEROBLASTIC Anemia, hypochromic with iron loading	CALR CYP2E1	1571 811	Homo sapiens (human)
DOID:8947	diabetic retinopathy Aliases: Retinal abnormality - diabetes-related	ACE ADIPOQ ADRB3 AKR1A1 AKR1B10 AKR1B1 AKT1 ALDH2 ATP6AP2 ATP6V0A2 B4GALT2 CAT CD14 CD74 CDH13 FUCA1 GAD1 GAD2 GAPDH GCK GGT1 GLO1 GLUL HK2 HS6ST3 ICAM1 INS ISYNA1 LGALS1 LGALS3 LIPG MBL2 OGG1 OGT PARP1 PDX1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PNP PNPLA2 PPARGC1A PRKAA2 PRNP PTEN PTGS2 RBP4 RENBP RPE RTN4R SDC1 SDHB SELE SELL SELP SIRT4 SIRT6 SORD SRGN ST3GAL4 ST8SIA4 TLR4 TM7SF2 TNF UMOD UPP1 VCAM1	1012 10159 10327 10891 142 155 1636 207 217 231 23409 23545 2517 2571 2572 2597 2645 266722 2678 2739 2752 3099 3383 3630 3651 3956 3958 4153 4860 4968 51477 51548 5290 5291 5293 5294 5552 5563 5621 57016 57104 5728 5743 5950 5973 6120 6382 6390 6401 6402 6403 6484 65078 6652 7099 7108 7124 7369 7378 7412 7903 7941 847 8473 8704 929 9370 9388 972	Homo sapiens (human)
DOID:8946	severe nonproliferative diabetic retinopathy Aliases: High risk non proliferative diabetic retinopathy Severe NPDR	DPEP1	1800	Homo sapiens (human)
DOID:8943	lattice corneal dystrophy Aliases: familial amyloid neuropathy, Finnish type	GCDH	2639	Homo sapiens (human)
DOID:8941	seborrheic infantile dermatitis Aliases: Complement 5 dysfunction Generalized seborrheic dermatitis of infants Infantile seborrheic dermatitis Infantile seborrhoeic dermatitis Pityriasis capitis Seborrhea sicca Seborrhoea capitis Seborrhoeic dermatitis of scalp Seborrhoeic eczema of scalp cradle cap seborrhea capitis	COMT CYP51A1 PIK3CA	1312 1595 5290	Homo sapiens (human)
DOID:8931	Evans' syndrome	ABO ACSBG1 CD38 CD44 CD72 CLEC1B FCGR3B FCN2 GALC HPSE2 HPSE IL1R1 KLRD1 LGALS9 MBD4 MBL2 MICA MRC1 NCAM1 PNP PTEN PTGS1 PTGS2 SELE SELP SMPD1 STS VNN1	100507436 10855 2215 2220 23205 2581 28 3554 3824 3965 412 4153 4360 4684 4860 51266 5728 5742 5743 60495 6401 6403 6609 8876 8930 952 960 971	Homo sapiens (human)
DOID:893	Wilson disease Aliases: Cerebral pseudosclerosis Westphal pseudosclerosis Westphal-Strumpell syndrome Wilson's disease hepatolenticular degeneration	ACACA ACE ACO1 AKR1D1 ALPP ANXA5 ARSA ATRNL1 CALR CAT CCDC115 CYP27B1 G6PD GALNS GLUL GNPAT GPX1 HJV IL1R1 NDUFAB1 PNPLA3 PRNP SLC17A5 SLC39A8 SMPD1 VCAM1	148738 1594 1636 250 2539 2588 26033 26503 2752 2876 308 31 3554 410 4706 48 5621 64116 6609 6718 7412 80339 811 84317 8443 847	Homo sapiens (human)
DOID:8929	atrophic gastritis Aliases: gastric atrophy	ABO ACACA ALDH2 CD44 CEACAM5 CHGA CYP2C19 CYP2E1 CYP3A4 DCN GAD1 GLUL GPI L1CAM NAGLU NGLY1 OGG1 PIK3CA PIK3CB PIK3CD PIK3CG PLCE1 PTEN PTGS2 TM7SF2 VTCN1	1048 1113 1557 1571 1576 1634 217 2571 2752 28 2821 31 3897 4669 4968 51196 5290 5291 5293 5294 55768 5728 5743 7108 79679 960	Homo sapiens (human)
DOID:8927	learning disability Aliases: Academic skill disorder learning disorder	ACAT1 ACER3 ACHE ACSL4 ADPRS AGA AGPAT2 AGRN ALDH3A2 ALDH5A1 ALDH7A1 ALDOB ALG11 ALG13 ALG14 ALG2 ALG9 ALOX12B AMT AMY1A AMY1B AMY1C ARSA ARSD ARSI ASAH1 ATP6AP2 ATP6V0A2 ATP6V1A B3GALNT2 B3GALT6 B3GLCT B4GALNT1 BCKDHA BCKDHB CA4 CACNA2D1 CALR CAT CD38 CERS1 CHAT CLN5 CMAS CNTN2 CNTN4 CNTN6 COG5 COG6 COG8 COLEC10 COLEC11 COMT CRPPA CTSA CYB5R3 CYP24A1 CYP27A1 CYP2U1 DAG1 DBT DCN DGCR2 DHCR24 DHCR7 DLD DPAGT1 EBP ENOSF1 EOGT EPM2A EXT1 EXT2 EXTL3 FASN FBP1 FCN2 FCSK FDFT1 FKRP FKTN FUCA1 FUT8 G6PC3 G6PD GAD1 GALT GAS1 GBA2 GBE1 GCK GCSH GGT1 GK GLB1 GLDC GLYCTK GMPPA GMPPB GNPAT GNPTAB GNS GPAA1 GPC3 GPC6 GPD2 GPI GUSB HACD1 HADH HADHA HADHB HEXA HGSNAT HK1 HMGCL HPRT1 HS6ST2 HSD17B12 IDH1 IDH2 IDH3A IDH3B IDS IDUA IL1RAP IL1RAPL1 IMPA1 INPP5E INPP5K KDSR KL L1CAM L2HGDH LARGE1 LDHA LDHD LFNG LSS MACROD2 MAG MAN1B1 MAN2B1 MAN2C1 MANBA MASP1 MBOAT7 MMUT NAGA NAGLU NANS NDST1 NEU1 NSDHL NTNG1 OCRL OGT PAFAH1B1 PAFAH1B3 PAPSS2 PARP1 PC PCCA PCCB PCYT1A PDHA1 PDHX PDIA3 PGAP1 PGAP2 PGAP3 PGK1 PGM3 PIGA PIGB PIGC PIGG PIGL PIGN PIGO PIGP PIGQ PIGU PIGV PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLCH2 PMM2 PNP PNPLA6 POMGNT1 POMGNT2 POMK POMT1 POMT2 PPT1 PRPS1 PTDSS1 PTEN RENBP RXYLT1 SC5D SDHA SDHB SDHC SDHD SGSH SLC17A5 SLC2A10 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC39A8 SMC3 SRD5A3 ST3GAL3 ST3GAL5 STS STT3B SUCLG1 SULT1E1 SUMF1 SYNJ1 TECR TKT TMTC3 TNFRSF10C TPI1 TUSC3 TYMP UGCG UMPS XYLT1 XYLT2	10082 10159 10329 10466 10555 10559 10584 10585 10682 10715 10908 1103 11141 11253 113612 1203 126792 128869 1312 132158 138050 140733 142 145173 148789 152330 1591 1593 160418 1605 1629 1634 1717 1718 1727 1738 175 1798 1890 197257 197258 199857 201595 2131 2132 2137 2182 2194 2203 2218 2220 2222 224 22854 229 23443 23545 23556 242 2517 2530 2531 2539 2571 2583 2592 2619 2632 2645 26503 2653 2678 2710 2719 2720 27255 2731 27315 275 276 277 278 2799 2820 2821 284098 285203 285362 2923 2990 29925 29926 29954 3030 3032 3033 3073 3098 3155 3251 3340 340075 3417 3418 3419 3420 3423 3425 3556 3612 375790 38 3897 3939 3955 4047 4099 410 412 4123 4125 4126 414 427 43 440138 4594 4668 4669 4758 4860 4952 501 5048 5050 50814 5091 5095 5096 51144 51227 5130 5160 51763 523 5230 5238 5277 5279 5290 5291 5293 5294 5373 54187 5476 54872 54936 55331 5538 55556 55624 55650 55907 5631 5648 56623 5728 57511 57704 593 594 5973 6309 6389 6390 6391 6392 64116 64131 64132 6448 6487 6783 6900 7086 7167 729920 7355 7357 7372 762 781 78989 79143 79147 7915 79158 7957 79644 79796 79868 7991 79944 80055 8050 81031 811 84197 84342 8443 847 84720 8473 84892 85365 8733 8794 8802 8867 8869 90161 9060 9091 9126 9197 9200 9215 92579 93210 9365 9487 9488 952 9524 9651 9791 9993	Homo sapiens (human)
DOID:8924	autoimmune thrombocytopenic purpura Aliases: Immune thrombocytopenic purpura idiopathic thrombocytopenic purpura primary thrombocytopenic purpura	ABO ACSBG1 CD38 CD44 CD72 CLEC1B FCGR3B FCN2 GALC HPSE2 HPSE IL1R1 KLRD1 LGALS9 MBD4 MBL2 MICA MRC1 NCAM1 PNP PTEN PTGS1 PTGS2 SELE SELP SMPD1 STS VNN1	100507436 10855 2215 2220 23205 2581 28 3554 3824 3965 412 4153 4360 4684 4860 51266 5728 5742 5743 60495 6401 6403 6609 8876 8930 952 960 971	Homo sapiens (human)
DOID:8923	skin melanoma Aliases: cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma	ACE ACER3 ACHE ACO1 ACSL3 AKR1B10 ALDH1A3 ALDH3A1 ALDH7A1 ALOX12 ALOX5 ALPI ALPP AMACR ANXA5 ANXA7 ANXA9 APRT ARSB ART3 ASAH1 B3GAT1 B4GALNT1 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 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 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 TMED5 TNFRSF10C TPI1 UGT8 VCAM1 VCAN VTCN1	100507436 10082 1012 10135 10434 10457 10462 1048 10610 10682 10855 1087 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 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 684 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)

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