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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 **1576 - 1600** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:5511	dysgerminoma of ovary Aliases: Ovarian Dysgerminoma	ACE PTEN	1636 5728	Homo sapiens (human)	DisGeNET
DOID:7926	epithelial malignant thymoma Aliases: Squamoid Thymoma Thymoma, epithelial Well differentiated thymic carcinoma	LY75	4065	Homo sapiens (human)	DisGeNET
DOID:0110464	autosomal recessive nonsyndromic deafness 103 Aliases: DFNB103 autosomal recessive deafness 103	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)	DisGeNET
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L Aliases: LGMD2L muscular dystrophy, limb-girdle, type 2L	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)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0070285	primary autosomal recessive microcephaly 1 Aliases: MCPH1	SDHB SDHD	6390 6392	Homo sapiens (human)	DisGeNET
DOID:5075	myxopapillary ependymoma	AKR1A1 ASAH1 CALR CD38 CD44 CHI3L1 IDH1 IDH2 IL18R1 IL1R1 L1CAM PIK3CA PIK3CB PIK3CD PIK3CG PTEN PTGS2 TDG TNFRSF10C	10327 1116 3417 3418 3554 3897 427 5290 5291 5293 5294 5728 5743 6996 811 8794 8809 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110453	dilated cardiomyopathy 1EE Aliases: CMD1EE	ACADVL ACE BDH1 CHKB 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 5130 5236 5290 5291 5293 5294 5973 622 6389 6392 6517 79147 7941 81031 9200	Homo sapiens (human)	DisGeNET
DOID:4247	coronary restenosis	ACE CDH13 MBL2 TNF TP53	1012 1636 4153 7124 7157	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:9282	ocular hypertension	ACSM3 AKR1B1 CYP1B1 HPSE2 TPI1	1545 231 60495 6296 7167	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050425	restless legs syndrome Aliases: WED Willis-Ekbom disease Wittmaack-Ekbom syndrome	ADH1B ATRN CHKB CNTN3 CPT1B GLO1 L1CAM NANS	1120 125 1375 2739 3897 5067 54187 8455	Homo sapiens (human)	DisGeNET
DOID:12919	Plasmodium ovale malaria Aliases: Malariaby Plasmodium ovale Ovale malaria	G6PD	2539	Homo sapiens (human)	DisGeNET
DOID:0060173	Timothy syndrome	HEXD OGA PRKAA2 SCD	10724 284004 5563 6319	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:4907	small intestine carcinoma Aliases: small intestinal carcinoma	MRC1 PTEN UGT1A1	4360 54658 5728	Homo sapiens (human)	DisGeNET
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	BRAF CFC1	55997 673	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:4001	ovarian carcinoma	ABO ACACA ACE ACLY ACOT7 ACSL3 ADH1A ADH1B ADH4 ADPRH AGPAT2 AKR1C1 AKR1C3 AKT2 ALDH2 ALDH5A1 ALOX12 ALOX12B ALOX15 ALOX5 ALPP ANXA4 ANXA5 ARF4 B4GALNT1 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 CNTN6 COMT 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 HMGCS2 HMMR HPGDS 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 MCAT MDH2 MGAT3 MICA MRC1 MSLN MTMR14 NCAM1 NEU1 NEU3 NT5E OGA OGG1 OPCML OVGP1 PARG PARP1 PCYT1A PDHX PDIA3 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKM PLA2G1B 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 SPAM1 SPHK1 SRD5A2 ST3GAL1 ST6GAL1 ST6GALNAC1 STS SULF1 SULT1E1 TFF1 TKT TM7SF2 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 1116 1119 11226 11332 124 125 127 1312 141 142 1431 1462 151056 152330 1543 1544 1545 1555 1558 1576 1577 1586 1588 1594 1604 161198 1634 1636 1645 1718 1890 1942 208 217 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 26301 2632 2678 2719 2720 27255 27306 27349 28 2817 2821 2876 2878 2923 2990 307 308 3099 31 3158 3161 3291 3292 3294 3339 3373 3383 3417 3418 3423 3482 3554 360226 3612 378 3897 3931 3939 3956 3958 3964 4065 412 4121 4191 4248 4360 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 64419 6470 6480 6482 6515 6517 6518 6609 6646 6677 670 6716 6783 683 6900 7031 7086 7108 7355 7357 7369 7412 7915 79623 79679 7991 79947 8050 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)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:9840	esotropia Aliases: Convergence in manifest squint Internal Strabismus crossed eyes	AGRN ALG9 B3GAT3 CHAT CHST3 CYB5R3 DDOST GBA1 GMPPB PGAP2 PGAP3 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PMM2 SLC35A2	1103 1650 1727 23556 26229 2629 27315 284098 29925 375790 51604 5373 55650 7355 79796 84720 84992 93210 9469 9487	Homo sapiens (human)	DisGeNET
DOID:0060873	isolated growth hormone deficiency type IA Aliases: IGHD IA Illig-type growth hormone deficiency autosomal recessive isolated growth hormone deficiency pituitary dwarfism I primordial dwarfism sexual ateleiotic dwarfism	ACSM3 ADH5 CD44 CD55 CYP17A1 CYP19A1 GAS1 GK GPC1 HJV HS6ST1 HSD17B3 L1CAM MMUT NT5E PMM2 PNPLA6 SEMA7A SMPD3 SOAT1 STS TYMP	10908 128 148738 1586 1588 1604 1890 2619 2710 2817 3293 3897 412 4594 4907 5373 55512 6296 6646 8482 9394 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:14261	fragile X syndrome Aliases: FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME	ALPI ALPP APRT ARSD CAT CD44 DGKK DLD G6PD HSPG2 ICAM5 IDS INPP5K LGALS4 PGD PIK3CA PIK3CB PIK3CD PIK3CG PLCG1 PTEN SDC2 ST8SIA4	139189 1738 248 250 2539 3339 3423 353 3960 414 51763 5226 5290 5291 5293 5294 5335 5728 6383 7087 7903 847 960	Homo sapiens (human)	DisGeNET
DOID:13174	dissociated nystagmus	ACO2 ACOX1 ADPRS AGK AGRN ALG13 ALG2 ASAH1 ATP6V1A B3GLCT CA4 CACNA2D2 CACNA2D4 CHAT COG4 CYP1B1 CYP7B1 DEGS1 DHCR24 DLAT DPAGT1 EBP ECHS1 ELOVL4 ELOVL5 EXT2 FCSK GAD1 GALC GBA1 GBA2 GMPPB GPAA1 HEXB HGSNAT HIBCH HS6ST1 HSD17B4 IDH3A IDH3B INPP5E INPP5K L1CAM L2HGDH LARGE1 MAG MAN2B1 MANBA MECR MPDU1 NAGA NANS NEU1 NT5E NYX OCRL OGT PCYT1A PDHA1 PIGN PIGQ PIGS PIGT PLA2G6 PLD3 PMM2 PNPLA6 POMGNT1 PRNP PRPS1 RPIA SDHA SDHB SDHD SGSH SLC17A5 SLC33A1 SLC35A1 SLC35A2 SLC39A8 SMC3 SMPD1 SRD5A3 ST3GAL5 STS SYNJ1 XYLT2	10559 10682 10908 1103 138050 145173 1545 1718 1737 1798 1892 197258 2132 22934 23556 23646 2571 2581 25839 26275 2629 26503 29925 3074 3295 3419 3420 375790 3897 4099 412 4125 4126 427 4668 4758 4907 4952 50 51 51102 5130 5160 51604 51763 523 5373 54187 54936 55624 55750 5621 5631 56623 57704 60481 60506 6389 6390 6392 64116 64132 6448 6609 6785 7355 762 79644 79868 79944 8398 8473 85365 8560 8733 8867 8869 9091 9126 9197 9215 9254 93589 9394 94005 9420 9526	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:1526	panniculitis	AGL PARP1 SMUG1	142 178 23583	Homo sapiens (human)	DisGeNET
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	POMK	84197	Homo sapiens (human)	Alliance of Genome Resources
DOID:1192	peripheral nervous system neoplasm Aliases: neoplasm of peripheral nerve nerve sheath neoplasm tumor of PNS	ACHE CD38 CD44 CNTN2 PTEN SDHB SDHC SMUG1 SOAT1	23583 43 5728 6390 6391 6646 6900 952 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1294	vulva carcinoma Aliases: Vulvar carcinoma	ABO CD44 DCN PTEN PTGS2 SMUG1	1634 23583 28 5728 5743 960	Homo sapiens (human)	DisGeNET
DOID:13003	vertebrobasilar insufficiency Aliases: Vertebro-basilar insufficiency Vertebrobasilar arterial insufficiency Vertebrobasilar artery syndrome	ACE CALR CAT CD74 CHKA CYP2C19 DHCR24 FCN1 G6PD GLA GPX3 ICAM1 LTC4S MCFD2 NAMPT OGG1 OLR1 PARP1 PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PTEN PTGS2 SELL SELP SIRT6 SMPD3 SULT1E1	10135 1119 142 1557 1636 1718 2219 2539 2717 2878 3383 4056 4968 4973 51548 5277 5290 5291 5293 5294 55512 5728 5743 6402 6403 6783 7941 811 847 90411 972	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1307	dementia	ACE ACHE ACOT7 ADH1C ADIPOQ AGPS AKR1C4 ALDH2 ARSA ASAH1 ASAH2 ATP6V0A2 ATP6V1A CD38 CEACAM5 CEACAM7 CERS1 CHAT CHI3L1 CHIT1 COMT CSPG4 CYP19A1 CYP27A1 DHDDS DLD EBP EPHX2 EPM2A G6PD GBA1 GBA2 GBE1 GM2A GNE GPX1 H6PD HEXA HPGDS HSD11B1 ICAM1 IDH1 INPP5D INPP5K KL LIPG LPL NAGLU NDUFAB1 PAFAH1B1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PLAUR PLD1 PNPLA6 PRNP PSAP PTGS2 SCD SDHA SDHB SDHD SFTPC SIRT2 SLC17A5 SLC2A3 SLC33A1 SMUG1 SORD SPTLC1 ST3GAL4 SUCLA2 SYNJ1 TGDS TIGAR TPI1 UGCG VCAM1	10020 1048 10558 10682 10715 1087 10908 1103 1109 1116 1118 11332 126 1312 1464 1588 1593 1636 1738 2053 217 22933 23483 23545 23583 2539 2629 2632 26503 27306 2760 2876 3073 3290 3383 3417 3635 4023 410 427 43 4669 4706 5048 51763 523 5290 5291 5293 5294 5329 5337 5621 5660 56624 57103 5743 57704 6319 6389 6390 6392 6440 6484 6515 6652 7167 7357 7412 7941 7957 79947 8540 8803 8867 9197 9365 9370 9388 952 9563	Homo sapiens (human)	DisGeNET Alliance of Genome Resources

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