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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 **7426 - 7450** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism
DOID:0050535	exudative vitreoretinopathy Aliases: FEVR familial exudative vitreoretinopathy	Lrp5	16973	Mus musculus (house mouse)
DOID:7400	Nijmegen breakage syndrome Aliases: Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome	IDH1 PARP1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN TMED3	142 23423 3417 5290 5291 5293 5294 5728	Homo sapiens (human)
DOID:0060643	primary sclerosing cholangitis	Tnf	21926	Mus musculus (house mouse)
DOID:2942	bronchiolitis	ATP6AP2 CD14 CD38 FUT2 ICAM1 IL1RL1 ISYNA1 KLRK1 MBL2 PLCG2 PTGDS SFTPA1 SFTPD	10159 22914 2524 3383 4153 51477 5336 5730 6441 653509 9173 929 952	Homo sapiens (human)
DOID:11724	limb-girdle muscular dystrophy Aliases: Erb's muscular dystrophy Leyden-Mbius muscular dystrophy limb girdle muscular dystrophy	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)
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:2256	osteochondrodysplasia Aliases: Cartilage Development disorder Congenital anomaly of cartilage Osteochondrodysplasia syndrome chondrodystrophy skeletal dysplasia	ACAN ACHE AKR1B1 ALDH3A2 ALG9 ALPL ARSB B3GAT3 B4GALT7 CD38 CHST1 CHST3 COL9A2 CTSA CYP27B1 CYP2B6 CYP2C19 CYP2C9 DCN EBP ENPP1 EXTL3 GALNS GLB1 GNPTAB GNPTG HS6ST1 HSPG2 HYAL1 IDS IDUA LFNG MICA NAGLU NANS NEU1 PAPSS2 PGM3 PTEN SGSH SLC26A2 SLC35A3 SLC35D1 SMUG1 SPAM1 XYLT1	100507436 10682 11285 1298 1555 1557 1559 1594 1634 176 1836 2137 224 231 23169 23443 23583 249 2588 26229 2720 3339 3373 3423 3425 3955 411 43 4669 4758 5167 5238 54187 5476 5728 64131 6448 6677 79158 79796 84572 8534 9060 9394 9469 952	Homo sapiens (human)
DOID:9837	hypertropia	ACO2 ACOX1 ACSL4 ADPRS AGK ALDH5A1 ALDH7A1 ALG11 ALG3 ALG6 ATP6V0A2 ATP6V1A B3GALNT2 CACNA2D2 CACNA2D4 CHAT CHST14 COG5 COLEC11 COMT CYB5R3 CYP1B1 DDOST DHCR24 ECHS1 ELOVL4 EOGT EXT2 FCSK FKRP FKTN GALC GAS1 GFPT1 GK GMPPB HIBCH HSD17B4 INPP5E INPP5K L1CAM L2HGDH LARGE1 MDH2 MPDU1 NAGA NGLY1 NSDHL NYX OCRL PDHA1 PIGL PIGP PIGQ PIGT PIGY PLA2G6 PMM2 PNPLA6 POMGNT1 POMK POMT1 POMT2 PTEN RFT1 SDHA SGPL1 SLC2A10 SLC35A2 SLC39A8 SMC3 SUCLA2	10195 10466 10585 10908 1103 113189 1312 148789 1545 1650 1718 1727 1892 197258 2132 2182 2218 23545 2581 2619 26275 2673 2710 285203 29925 29929 29954 3295 3897 4191 440138 4668 4952 50 501 50814 51 51227 5160 51604 51763 523 5373 54936 55624 55750 55768 56623 5728 60506 6389 64116 6785 7355 78989 79147 7915 79944 81031 8398 84197 84992 8803 8879 9091 9126 91869 9215 9254 93589 9487 9526	Homo sapiens (human)
DOID:6367	acral lentiginous melanoma Aliases: acral lentiginous melanoma, malignant malignant acral lentiginous melanoma	PLD1 PTEN	5337 5728	Homo sapiens (human)
DOID:10322	berylliosis Aliases: beryllium poisoning	ACE	1636	Homo sapiens (human)
DOID:4194	glucose metabolism disease Aliases: disorder of glucose metabolism	Gck Hk1 Hk2 Hk3 Tlr4	24385 25058 25059 25060 29260	Rattus norvegicus (Norway rat)
DOID:1523	colon lymphoma Aliases: Colonic Lymphoma	NCAM1	4684	Homo sapiens (human)
DOID:8499	night blindness Aliases: nyctalopia	ARSG CA4 CACNA2D4 COG4 ELOVL4 HADHA HGSNAT HK1 HSD3B7 NYX PCYT1A POMGNT1	138050 22901 25839 3030 3098 5130 55624 60506 6785 762 80270 93589	Homo sapiens (human)
DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy	CNTN1 CNTN2 GBE1 HPRT1 MAG PTGS2	1272 2632 3251 4099 5743 6900	Homo sapiens (human)
DOID:9675	pulmonary emphysema	ACE ATP6V0A2 CAT CD74 CEACAM5 CEACAM7 CH25H CHI3L1 CYP2B6 EPHX2 FDPS FUT8 GCLC GPX1 IL18R1 ISYNA1 KL LGALS9 LMAN2L MAN1C1 PARP1 PIK3CA PTEN PTGS2 RGN SFTPC SFTPD SGMS2 SIGLEC9 SLC2A10 SMPD2 SMPD3 SOAT1 TLR4 TM7SF2 VCAN	1048 1087 1116 142 1462 1555 1636 166929 2053 2224 23545 2530 27180 2729 2876 3965 51477 5290 55512 57134 5728 5743 6440 6441 6610 6646 7099 7108 81031 81562 847 8809 9023 9104 9365 972	Homo sapiens (human)
DOID:0110443	dilated cardiomyopathy 1B	ACADVL ACE BDH1 CHKB CNTN3 CPT2 DAG1 DOLK FASN FKRP FKTN GLB1 GPX1 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 LDHA LGALS3 LPL MDH1 MICA MTM1 NAMPT NCAM1 NDUFAB1 PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 POMT2 RENBP SDHA SDHD SLC2A10 SLC2A4	100507436 10135 1120 1376 148738 1605 1636 2194 2218 22845 2720 2876 29954 3030 3032 3033 3155 3251 37 3939 3958 4023 4190 4534 4684 4706 5067 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)
DOID:0090101	lethal congenital glycogen storage disease of heart Aliases: fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis phosphorylase kinase deficiency of heart	Prkag2 Prkag3	108099 241113	Mus musculus (house mouse)
DOID:0110312	hypertrophic cardiomyopathy 6 Aliases: CMH6 cardiomyopathy, familial hypertrophic 6	PRKAG2	51422	Homo sapiens (human)
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	ABO ACACA ACE ACHE ACLY ACOT7 ACSL3 ADH1A ADH1B ADH4 ADPRH AGPAT2 AKR1C1 AKR1C3 AKT1 ALDH2 ALDH5A1 ALOX12 ALOX12B ALOX15 ALOX5 ALPP ANXA4 ANXA5 ANXA7 APEX1 ARF4 B4GALNT1 B4GALNT3 B4GALNT4 BDH2 BPHL BST1 C1GALT1 CALR CAT CBR1 CBR3 CD14 CD248 CD33 CD44 CD55 CDH13 CEACAM5 CEACAM6 CEACAM7 CEMIP CHI3L1 CHKA CHPT1 CHST11 CHST15 CHST3 CLEC10A CLEC14A CNTN2 CNTN4 COMT CPT2 CS CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP27B1 CYP2B6 CYP2C8 CYP3A4 CYP3A5 DCN DHCR24 DHDDS DPEP2 ECHDC1 EFNA1 ENOSF1 ENPP2 FASN FBP1 FCN2 FCN3 FOLR1 FOLR2 FUT1 FUT8 G6PC1 GALNT14 GALNT1 GALNT3 GALNT6 GALT GAPDH GBE1 GBGT1 GCNT3 GFPT2 GGT1 GLB1 GOLPH3 GPC1 GPC3 GPC5 GPC6 GPI GPX1 GPX3 GPX6 GUSB HACD1 HK2 HMMR HPGDS HPRT1 HPSE HS3ST2 HSD11B2 HSD17B12 HSD17B1 HSD17B2 HSD17B7 HSPG2 HYAL1 ICAM1 IDH1 IDH2 IDS IGF2R IL1R1 IMPA1 INPP4B IPMK KL KLRK1 L1CAM LCAT LDHA LGALS1 LGALS3 LGALS8 LY75 MAN1A1 MASP2 MBL2 MCAT MGAT3 MICA MRC1 MSLN MUTYH NCAM1 NEU1 NEU3 NT5E OGA OGG1 OPCML OVGP1 PARG PARP1 PCYT1A PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B PLAAT3 PLAUR PLB1 PLCG1 PLCZ1 PLPP1 PNP PNPLA2 PPAT PRKAA2 PRNP PRSS21 PRSS41 PRSS8 PSAP PTEN PTGDS PTGS1 PTGS2 RENBP SCD SDC1 SELP SFTPD SHMT1 SIRT2 SIRT6 SLC2A3 SLC2A4 SLC2A5 SLC35A2 SMPD1 SMUG1 SOAT1 SPHK1 SRD5A2 ST3GAL1 ST6GAL1 ST6GALNAC1 STS SULF1 SULT1E1 TFF1 TIPARP TKT TM7SF2 TNF TNFRSF10C TNKS TUSC3 TYMP UGCG UGT1A1 UGT2A1 UGT2A2 UMOD VCAM1 VCAN VTCN1	100507436 10082 1012 10232 10462 1048 10555 10724 10747 10825 10855 1087 10941 10942 11145 1116 1119 11226 11332 124 125 127 1312 1376 141 142 1431 1462 151056 152330 1543 1544 1545 1555 1558 1576 1577 1586 1588 1594 1604 161198 1634 1636 1645 1718 1890 1942 207 217 2181 2194 2203 2220 2262 22914 22933 23213 2348 2350 23583 239 240 242 246 250 2523 2530 253430 2538 257202 2583 2589 2591 2592 2597 25976 26301 2632 2678 2719 2720 27306 27349 28 2817 2821 283358 2876 2878 2923 2990 307 308 3099 31 310 3161 3251 328 3291 3292 3294 3339 3373 3383 338707 3417 3418 3423 3482 3554 360226 3612 378 3897 3931 3939 3956 3958 3964 4065 412 4121 4153 4248 43 4360 4595 4680 4684 47 4758 4860 4907 4968 4978 5016 50515 51144 5130 51363 51478 51548 5168 5230 5290 5291 5293 5294 5315 5319 5329 5335 54658 5471 55556 5563 55808 55862 5621 5652 5660 56898 56913 56994 57104 57124 57214 5728 5730 5742 5743 574537 5973 6319 6382 6403 64083 64174 6441 6470 6480 6482 6515 6517 6518 6609 6646 670 6716 6783 683 6900 7031 7086 7108 7124 7355 7357 7369 7412 7915 79623 79679 7991 79947 811 847 8505 8547 8611 8644 8658 873 874 8794 8821 8877 89869 9200 9245 929 9365 945 9469 960 9945 9956	Homo sapiens (human)
DOID:0111380	solitary median maxillary central incisor Aliases: SMMCI fused incisors single central maxillary incisor single median maxillary central incisor single upper central incisor	GAS1	2619	Homo sapiens (human)
DOID:13139	crescentic glomerulonephritis	ABO ACE CD44 DCN FCGR3B ICAM1 MRC1 VCAM1	1634 1636 2215 28 3383 4360 7412 960	Homo sapiens (human)
DOID:0070313	thiamine deficiency disease	AGXT CHAT SLC35F3 TKT	1103 148641 189 7086	Homo sapiens (human)
DOID:4932	ampulla of Vater carcinoma Aliases: ampulla of vater cancer ampullary carcinoma carcinoma of ampulla of vater	CD44 CEACAM5 CYP1A1 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PTGS2	1048 1543 4594 5290 5291 5293 5294 5743 960	Homo sapiens (human)
DOID:2280	hidradenitis suppurativa Aliases: Acne inversa, familial	Tnf	21926	Mus musculus (house mouse)
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z Aliases: limb-girdle muscular dystrophy 21	Poglut1	224143	Mus musculus (house mouse)

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