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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **6276 - 6300** of **7942** in total

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Disease ID	Disease Name ▼	Gene Symbol	Gene ID	Organism
DOID:0070131	autosomal dominant cutis laxa 3 Aliases: ADCL3	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0070136	autosomal dominant cutis laxa 2 Aliases: ADCL2	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0070130	autosomal dominant cutis laxa 1 Aliases: ADCL1	ATP6AP1 ATP6V0A2 B3GALT6 B3GAT3 B4GALT7 CAT CHST3 DCN DHCR7 ECHS1 ENOSF1 MAN1B1 PARP1 PIGL PLCG2 PMM2 PTDSS1 SLC2A10 SRD5A3	11253 11285 126792 142 1634 1717 1892 23545 26229 5336 537 5373 55556 79644 81031 847 9469 9487 9791	Homo sapiens (human)
DOID:0060293	autosomal dominant chondrodysplasia punctata	AGPS ARSH DHCR24 EBP GNPAT NSDHL STS SUMF1	10682 1718 285362 347527 412 50814 8443 8540	Homo sapiens (human)
DOID:1441	autosomal dominant cerebellar ataxia Aliases: spinocerebellar ataxia	CAT CNTN4 ELOVL4 ELOVL5 ENPP2 GLO1 HPGDS HSD17B6 MPI OGA PLA2G1B PLA2G2A PLA2G6 PLB1 PNPLA6 PRNP SDHC SPTLC3 SUMF1 TREH	10724 10908 11181 151056 152330 27306 2739 285362 4351 5168 5319 5320 55304 5621 60481 6391 6785 8398 847 8630	Homo sapiens (human)
DOID:0111217	autosomal dominant centronuclear myopathy Aliases: AD-CNM	MTM1 MTMR14	4534 64419	Homo sapiens (human)
DOID:0060690	autosomal dominant auditory neuropathy 1 Aliases: AUNA1 NSDAN nonsyndromic dominant auditory neuropathy	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:0060767	autosomal dominant Robinow syndrome 3 Aliases: DRS3	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0060765	autosomal dominant Robinow syndrome 2 Aliases: DRS2	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	ACADS AMT ARSA ARSD B4GALT7 BAAT CAT CHPT1 CYP11A1 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 PARP1 PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 142 1583 1605 1634 2348 2597 2653 2720 2731 275 2821 3339 35 410 412 414 4968 5224 5290 5291 5293 5294 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365	Homo sapiens (human)
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2 Aliases: EDMD2 EMD2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant Hauptmann-Thannhauser muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1B muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant scapuloilioperoneal atrophy with cardiopathy	ACE ACHE AGL APRT B3GALNT2 B4GALNT2 B4GAT1 CHKA CHKB CRPPA DAG1 DCN DPEP1 DPM1 DPM2 DPM3 ENO1 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 2218 2710 2720 27306 29925 29954 3418 353 3612 3633 3958 4153 43 51763 5286 5373 54344 5553 55624 56983 6383 6476 729920 79147 84197 84892 8813 8818 8867 8871 8972 9215	Homo sapiens (human)
DOID:11504	autonomic neuropathy	ABO ACE ACHE ALDH3A2 ARSA B4GALNT1 BST2 CACNA2D2 CD1D CDH13 CHI3L1 COL9A2 COMT CYB5R3 CYP1A2 CYP27A1 CYP2B6 CYP2C8 CYP2C9 DEGS1 DLD ELOVL4 ENO2 ENPP2 FCN2 GAD1 GAD2 GBA1 GBA2 GCDH GLUL GOLPH3 GPI GPX1 GUSB HK1 HPGDS HPRT1 IDH3A IDS INPPL1 KL L1CAM LYZ MAG MANBA MANEAL MGLL NAGA NCAM1 NCAN NEU3 OGA OGDH PAFAH1B1 PARP1 PGP PIGW PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLB1 PNP PNPLA6 PPT1 PRNP PTEN PTGS2 SARM1 SEMA7A SHMT1 SIGLEC7 SIRT2 SLC2A4 SLC39A8 SMPD1 SMPD3 SMUG1 SPTLC1 ST8SIA4 SUCLA2 TMED9 TPI1	1012 10558 10724 10825 10908 1116 11343 1298 1312 142 1463 149175 151056 1544 1555 1558 1559 1593 1636 1727 1738 2026 2220 224 22933 23098 23583 2571 2572 2583 2629 2639 27036 27306 2752 28 2821 283871 284098 2876 2990 3098 3251 3419 3423 3636 3897 4069 4099 410 4126 43 4668 4684 4860 4967 5048 5168 5290 5291 5293 5294 5320 5321 54732 5538 55512 5621 5728 5743 57704 64083 64116 6470 6517 6609 6785 684 7167 7903 8398 8399 8482 8560 8803 912 9254 9365	Homo sapiens (human)
DOID:7188	autoimmune thyroiditis Aliases: Chronic Lymphocytic Thyroiditis Hashimoto thyroiditis Hashimoto's Disease Hashimoto's syndrome Hashimoto's thyroiditis Lymphocytic Thyroiditis	CD14 CD38 CYP19A1 CYP21A2 CYP27B1 DAG1 FUT2 GAD1 GAD2 GLUL GPX3 ICAM1 IL18R1 IL18RAP IL1RL1 LGALS3 MBL2 NCAM1 NT5E PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PLCG2 PTEN PTGDS PTGS2 RENBP SOAT1	1588 1589 1594 1605 2524 2571 2572 2752 2878 3383 3958 4153 4684 4907 5130 5290 5291 5293 5294 5336 5728 5730 5743 5973 6646 8807 8809 9173 929 952	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:14040	autoimmune polyendocrine syndrome Aliases: Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy	ADH1A AKR1A1 ANXA5 APRT CD1D CLEC7A CYP1A2 CYP2B6 DLAT FCGR3B GPI LCT LYZ MBL2 NT5E PC PIK3CA PLA2G2A PLA2G6 PTGS1 SELE SLC17A5 VCAM1	10327 124 1544 1555 1737 2215 26503 2821 308 353 3938 4069 4153 4907 5091 5290 5320 5742 6401 64581 7412 8398 912	Homo sapiens (human)
DOID:0050167	autoimmune polyendocrine syndrome type 1 Aliases: Autoimmune Polyglandular Syndrome I Whitaker syndrome autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy	ADH1A CD1D CLEC7A CYP1A2 CYP2B6 DLAT FCGR3B LYZ VCAM1	124 1544 1555 1737 2215 4069 64581 7412 912	Homo sapiens (human)
DOID:0040091	autoimmune pancreatitis	ALPI ALPP AMY2A ENO1 PKD1 SMUG1	2023 23583 248 250 279 5310	Homo sapiens (human)
DOID:6688	autoimmune lymphoproliferative syndrome Aliases: ALPS Canale-Smith syndrome	ABO ACAN ACE ACHE ACSBG1 AKR1A1 ANXA5 ARSD ASAH2 ATP6AP2 B3GAT1 C1GALT1 C1GALT1C1 CALR CAT CD14 CD177 CD1D CD22 CD248 CD38 CD44 CD48 CD55 CD74 CEACAM5 CEL CHI3L1 CLEC16A CLEC7A CNTN2 CPT1C CRYL1 CYP19A1 CYP21A2 CYP24A1 CYP27B1 CYP2B6 CYP2C19 CYP2E1 CYP2R1 CYP3A5 DAG1 DGCR2 DHCR7 DLAT EBP ENO1 ENO2 ENO3 EXT1 EXT2 FASN FCER2 FCGR3B FCN1 FCN2 FH FOLR2 FUCA1 FUCA2 FUT1 FUT2 GAD1 GAD2 GAPDH GCK GLUL GPC3 GPI GPX1 HK1 HMMR HPGDS HPRT1 HPSE HSPG2 ICAM1 IL18R1 IL18RAP IL1R1 IL1RAPL1 IL1RL1 INPP5D KLRB1 KLRC1 KLRD1 KLRK1 LGALS1 LGALS3 LGALS8 LGALS9 LYPLA1 LYZ MAG MAN2A1 MANEA MASP2 MBL2 MICA MLYCD MRC1 NAMPT NCAM1 NEU1 NT5E PARG PARP1 PARP9 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLA2R1 PLB1 PLCG2 PLD1 PNP PRKAA2 PSMD10 PTEN PTGS2 SCD SDC1 SELL SELP SIGLEC1 SLC27A5 SLC35B2 SLC37A4 SMUG1 SOAT1 SPHK1 SPHK2 TALDO1 TPI1 VCAM1 VTCN1	100507436 10135 10159 10327 10434 1048 1056 10682 10747 10855 10998 11141 1116 120227 126129 142 151056 1555 1557 1571 1577 1588 1589 1591 1594 1604 1605 1636 1717 1737 176 2023 2026 2027 2131 2132 2194 2208 2215 2219 2220 2271 22914 22925 23205 23274 23417 2350 23583 2517 2519 2523 2524 2542 2571 2572 2597 2645 27087 2719 27306 2752 28 2821 2876 29071 308 3098 3161 3251 3339 3383 347734 3554 3635 3820 3821 3824 3956 3958 3964 3965 4069 4099 4124 414 4153 43 4360 4684 4758 4860 4907 51084 5277 5290 5291 5293 5294 5315 5319 5336 5337 5563 56624 56848 56913 57124 57126 5716 5728 5743 6319 6382 6402 6403 64581 6614 6646 6888 6900 7167 7412 79679 79694 811 83666 847 8505 8807 8809 8877 912 9173 929 933 952 960 962 972 9993	Homo sapiens (human)
DOID:0110119	autoimmune lymphoproliferative syndrome type 3 Aliases: ALPS3 autoimmune lymphoproliferative syndrome type III	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:0110116	autoimmune lymphoproliferative syndrome type 2B Aliases: ALPS with recurrent viral infections ALPS2B CEDS Caspase 8 deficiency Caspase 8 deficiency syndrome Caspase eight deficiency state autoimmune lymphoproliferative syndrome type IIB autoimmune lymphoproliferative syndrome with recurrent viral infections	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:0110115	autoimmune lymphoproliferative syndrome type 2A Aliases: ALPS2A autoimmune lymphoproliferative syndrome type IIA	ACSBG1 ASAH2 CD14 CD22 CD38 CD44 CEL CNTN2 EBP FCER2 FCGR3B FH ICAM1 IL18R1 IL1R1 KLRB1 KLRD1 LGALS1 MLYCD MRC1 NCAM1 PARP9 PIK3CA PIK3CB PIK3CD PIK3CG PKM SDC1 SLC27A5 SLC35B2 SMUG1 SOAT1	1056 10682 10998 2208 2215 2271 23205 23417 23583 3383 347734 3554 3820 3824 3956 4360 4684 5290 5291 5293 5294 5315 56624 6382 6646 6900 83666 8809 929 933 952 960	Homo sapiens (human)
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	ACACA ACE ADIPOQ ALDOB ARSA CAT CD1D CD74 CFC1 CHST3 CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP1A2 CYP21A2 CYP2B6 CYP2C19 CYP2C9 CYP2E1 CYP3A4 DBT DLAT FH GPI GPX1 HK1 HPGDS HSD11B2 HSD17B3 HSD17B6 HSD3B2 INPP5D KLRC1 KLRK1 LGALS9 OGT PDIA3 SLC17A5 SLC2A3 SMUG1 TNF UMOD	1544 1555 1557 1559 1571 1576 1583 1584 1586 1588 1589 1629 1636 1737 2271 229 22914 23583 26503 27306 2821 2876 2923 3098 31 3284 3291 3293 3635 3821 3965 410 55997 6515 7124 7369 847 8473 8630 912 9370 9469 972	Homo sapiens (human)
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	Adipoq Tnf	11450 21926	Mus musculus (house mouse)
DOID:2048	autoimmune hepatitis Aliases: Autoimmune chronic active hepatitis autoimmune hepatitis with centrilobular necrosis	Tnf	24835	Rattus norvegicus (Norway rat)
DOID:718	autoimmune hemolytic anemia Aliases: Autoimmune haemolytic anaemia autoimmune hemolytic anaemia	ABO ANXA5 B3GAT1 CD48 CD55 FCGR3B HMMR LYPLA1 MBL2 OCRL PNP	10434 1604 2215 27087 28 308 3161 4153 4860 4952 962	Homo sapiens (human)

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