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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 **4401 - 4425** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲
DOID:1037	lymphoid leukemia Aliases: lymphoblastic leukaemia lymphoblastic leukemia lymphocytic leukaemia	AKR1B1 B3GAT1 CD22 CD33 CD38 CD44 CDH13 CEACAM5 CYP3A5 DLD EBP FCER2 FDPS GML HPGDS HPSE ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 MACROD1 MTAP NCAM1 PCYT1A PGP PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PLD2 PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 SMPD3 VCAM1	1012 1048 10682 10855 1577 1738 2208 2224 22914 231 27036 27087 27306 2765 283871 28992 3383 3417 3418 4507 4684 5130 5286 5290 5291 5293 5294 5338 5506 55512 5728 5743 7412 8809 9126 9215 933 945 952 960	Homo sapiens (human)
DOID:0060787	hypomyelinating leukodystrophy 2 Aliases: HLD2 PMLD1 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation	GBA1 PI4KA	2629 5297	Homo sapiens (human)
DOID:4648	familial retinoblastoma Aliases: Hereditary Retinoblastoma	APRT CBR3 CD44 CDH13 CEACAM5 CEACAM7 CEMIP 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 SIGLEC7 SOAT1 SUCLA2 TIGAR ULBP2	100507436 10082 1012 1048 10682 10728 1087 1943 2023 2026 2194 22914 2348 2529 27036 2720 27306 2821 283871 3383 3417 3418 3482 353 3897 3939 3958 4350 4507 4594 4684 5281 5290 5291 5293 5294 57103 57104 5716 57214 5728 5743 5973 6120 6646 80328 874 8803 9388 960	Homo sapiens (human)
DOID:0050644	arterial calcification of infancy Aliases: generalized arterial calcification of infancy idiopathic infantile arterial calcification infantile arteriosclerosis	ENPP1 NT5E	4907 5167	Homo sapiens (human)
DOID:4157	secondary syphilis Aliases: secondary syphilis of viscera or bone	CD14 EXTL3	2137 929	Homo sapiens (human)
DOID:12171	radial neuropathy	PRNP	5621	Homo sapiens (human)
DOID:4313	epidermolysis bullosa acquisita Aliases: acquired epidermolysis bullosa	PIK3CA PIK3CB PIK3CD PIK3CG SELL	5290 5291 5293 5294 6402	Homo sapiens (human)
DOID:403	mouth disease	PTGS2	5743	Homo sapiens (human)
DOID:0110780	hereditary spastic paraplegia 29 Aliases: SPG29 autosomal dominant spastic paraplegia 29	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:1100	ovarian disease	CYP19A1 KLB	152831 1588	Homo sapiens (human)
DOID:0080033	craniometaphyseal dysplasia	ACE CD177 CHKB DAG1 FKRP FKTN IGF2R LGALS4 MPI POMT1 POMT2 ST3GAL4	10585 1120 1605 1636 2218 29954 3482 3960 4351 57126 6484 79147	Homo sapiens (human)
DOID:0110913	adult hypophosphatasia Aliases: mild hypophosphatasia	ALPL ALPP ATRNL1	249 250 26033	Homo sapiens (human)
DOID:0060255	rippling muscle disease 2 Aliases: autosomal dominant limb-girdle muscular dystrophy type 1C	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CHPT1 CRPPA DAG1 DCN DHDDS DPEP1 DPM1 DPM2 DPM3 ENO1 FASN FKRP FKTN GK GLB1 GMPPB HPGDS IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 RXYLT1 SDC2 SI SYNJ1 SYNJ2	10329 10585 11041 1119 1120 120071 124872 142 148789 1605 1634 1636 178 1800 2023 2194 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 56994 6383 6476 729920 79147 79947 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:0060746	basal laminar drusen Aliases: cuticular drusen drusen of bruch membrane early adult-onset grouped drusen	RPE	6120	Homo sapiens (human)
DOID:14497	Wolman disease Aliases: Acid esterase deficiency Acid lipase deficiency Wolman xanthomatosis Wolman's disease Wolman's or triglyceride storage type III disease Xanthomatosis, familial acute infantile lysosomal acid lipase deficiency complete LAL deficiency complete LIPA deficiency complete cholesterol ester hydrolase deficiency complete lysosomal acid lipase deficiency	ASAH1 CAT CEL CHIT1 CYP27A1 FADS2 GALC GBA1 GDPD3 LIPA LIPF LPL LSS NCAM1 SCD SFTPD SLC2A3 SOAT2	1056 1118 1593 2581 2629 3988 4023 4047 427 4684 6319 6441 6515 79153 8435 847 8513 9415	Homo sapiens (human)
DOID:0110577	autosomal dominant nonsyndromic deafness 51 Aliases: DFNA51 autosomal dominant deafness 51 chromosome 9q21.11 duplication syndrome	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:9120	amyloidosis Aliases: amyloid disease	ACAN ACAT1 ACE ACHE ADIPOQ AGPS AKR1C4 ALOX12 ALOX15 ALOX5 ANXA5 APRT ARSA CAT CD109 CD14 CD33 CD38 CD55 CD74 CHAT CHI3L1 CHIT1 CHST6 CLEC7A CYP46A1 DCN DEGS1 DGCR2 DPEP1 EHHADH FCN2 G6PD GALNS GAPDH GOT1 GPNMB GPX1 HSD11B1 HSPG2 LYZ MAG MBL2 MICA NAGLU NCAM1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G7 PLD3 PRNP PTGS1 PTGS2 SCD SDC1 SFTPA1 SLC2A12 SMUG1 SOAT1 STS SUCLA2 TNF VCAM1	100507436 10457 10858 1103 1109 1116 1118 135228 142 154091 1604 1634 1636 176 1800 1962 2220 23583 23646 239 240 246 2539 2588 2597 2805 2876 308 3290 3339 353 38 4069 4099 410 412 4153 4166 43 4669 4684 5290 5291 5293 5294 5321 5621 5742 5743 6319 6382 64581 653509 6646 7124 7412 7941 847 8540 8560 8803 929 9370 945 952 972 9993	Homo sapiens (human)
DOID:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	ALPP ANXA5 ATRNL1 B3GAT1 CEACAM5 CEACAM7 COMT DCN ENO2 FCGR3B ICAM1 LTA4H NCAM1 PKM SCD SMUG1 TKT VTCN1	1048 1087 1312 1634 2026 2215 23583 250 26033 27087 308 3383 4048 4684 5315 6319 7086 79679	Homo sapiens (human)
DOID:0110807	hereditary spastic paraplegia 55 Aliases: SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55	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:7848	interdigitating dendritic cell sarcoma Aliases: Interdigitating cell sarcoma	FCER2 SLC35B2	2208 347734	Homo sapiens (human)
DOID:1555	urticaria	ACE AGXT ALDH3A2 ALOX5 ARSA BST2 CAT CD38 DGKG ELOVL4 FCGR3B GPX1 HPGDS ICAM1 LTC4S PIGT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLCG1 PLCG2 PTGS2 SDHB SDHC SELE VCAM1	1608 1636 189 2215 224 240 27306 2876 3383 4056 410 51604 5290 5291 5293 5294 5321 5335 5336 5743 6390 6391 6401 6785 684 7412 847 952	Homo sapiens (human)
DOID:0111151	Prinzmetal angina Aliases: Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris	ACE AKR1A1 ALDH2 ICAM1 KL PCYT1A SMUG1	10327 1636 217 23583 3383 5130 9365	Homo sapiens (human)
DOID:0090065	familial cold autoinflammatory syndrome 4	HPSE PLCG2	10855 5336	Homo sapiens (human)
DOID:784	chronic kidney disease Aliases: CKD CRF chronic kidney failure chronic renal disease chronic renal failure syndrome renal failure - chronic	ABO ACACA ACADL ACADS ACAT1 ACE ACHE ACLY ACSBG1 ACSM3 ACSS2 AGXT AKR1B1 ALDH2 ALDOB AMACR ANXA5 APRT ARSA ATP6AP2 B3GAT1 CAT CBR1 CD14 CD177 CD248 CD55 CDH13 CERS2 CERS4 CHGA CHI3L1 CLEC16A CMAS CNTN3 COL9A2 COMT CPT1A CPT2 CYP11B2 CYP1A1 CYP1A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP3A4 CYP3A5 DDOST DGAT1 DGAT2 DHCR24 DPEP1 ENO1 ENPP1 EPHX2 EXTL2 FADS1 FADS2 FAR2 FASN FCGR3B G6PC1 GAD1 GALNT3 GFPT2 GGT1 GLA GLB1 GPX1 GPX3 GRHPR HJV HOGA1 HPGDS HPSE HSD11B1 HSD11B2 ICAM1 IGF2R KL LCAT LEPR LGALS3 LIPC LPIN1 LPL MANBA MBL2 MBOAT7 MICA MPI MTM1 NAGLU NAMPT OCRL OGA OGG1 OLR1 PARP1 PCYT1A PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIP5K1B PKD1 PKD2 PLA2G10 PLA2G15 PLA2G2A PLA2R1 PLB1 PLCE1 PLD1 PLD2 PNPLA3 PRKAA2 PRNP PTGDS PTGES PTGS1 PTGS2 RBP4 RENBP RGMA RPN1 SDC1 SELE SELL SELP SFTPA1 SHMT1 SIRT6 SLC17A5 SLC2A4 SLC33A1 SLC3A1 SMPD3 SMUG1 SPHK2 ST8SIA4 STS TALDO1 TKT UMOD VCAM1 VCAN VNN1 XYLT2	100507436 1012 10135 10159 10724 10855 1113 1116 112817 1298 1312 1374 1376 142 1462 148738 151056 1543 1544 1555 1557 1558 1559 1576 1577 1585 1591 1594 1604 1636 1650 1718 1800 189 2023 2053 2135 217 2194 2215 229 22925 231 23175 23205 23274 23583 23600 23659 2538 2571 2591 26503 2678 27087 2717 2720 27306 28 2876 2878 29956 308 31 3290 3291 33 3383 3482 35 353 38 3931 3953 3958 3990 3992 4023 410 412 4126 4153 43 4351 4534 4669 47 4952 4968 4973 5067 51196 5130 51548 5167 5289 5290 5291 5293 5294 5310 5311 5320 5337 5338 55512 5563 55711 55902 55907 5621 56848 56963 57124 57126 5730 5742 5743 5950 5973 6184 6296 6382 6401 6402 6403 64132 6470 6517 6519 653509 6888 7086 7369 7412 7903 79143 79603 80339 8395 8399 84649 847 8694 873 8876 9197 929 9365 9380 9415 9536 9945	Homo sapiens (human)
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D Aliases: Alpha-sarcoglycanopathy DMDA2 Duchenne-like autosomal recessive muscular dystrophy type 2 LGMD2D muscular dystrophy, limb-girdle, type 2D primary adhalinopathy	ACAN ACE ACHE AGK AGL ALDH7A1 ALOX12 ALPP APRT ATRNL1 B3GALNT2 B4GALNT2 B4GAT1 CD44 CHKA CHKB CRPPA CTNS DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 FKRP FKTN GAA GK GLB1 GMPPB GNE HACD1 HPGDS HSPG2 IDH2 IMPA1 INPP5B INPP5K LARGE1 LARGE2 LGALS3 MBL2 MGAM PARP1 PIK3C2A PMM2 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRG2 PRKAA2 PYGM RGN RXYLT1 SDC2 SI SIRT2 SLC3A1 ST3GAL4 SYNJ1 SYNJ2	10020 10329 10585 11041 1119 1120 120071 124872 142 148789 1497 1605 1634 1636 176 178 1800 2023 2218 22933 239 250 2548 26033 2710 2720 27306 29925 29954 3339 3418 353 3612 3633 3958 4153 43 501 51763 5286 5373 54344 5553 55624 5563 55750 56983 5837 6383 6476 6484 6519 729920 79147 84197 84892 8813 8818 8867 8871 8972 9104 9200 9215 960	Homo sapiens (human)

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