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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 **5776 - 5800** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:4386	myofibroma Aliases: Lipoleiomyoma	ACE CD38 CD44 CHST3 COG5 COG6 COMT CYP17A1 CYP19A1 CYP1A1 CYP1B1 CYP24A1 CYP2B6 CYP4F3 DHCR24 EBP EDEM2 ENO1 FASN FH FMOD GLB1 HK3 HPGDS HPSE2 HSD17B1 HSD17B2 HSD17B7 IL18R1 LGALS3 OGG1 PGAM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G1B POGLUT3 PTEN PTGS2 RECK SDHB SLC2A4 SMUG1 SORD TKTL1 UGT1A8 VCAN	10466 10682 1312 143888 1462 1543 1545 1555 1586 1588 1591 1636 1718 2023 2194 2271 2331 23583 2720 27306 3101 3292 3294 3958 4051 4968 51478 5223 5290 5291 5293 5294 5319 54576 55741 5728 5743 57511 60495 6390 6517 6652 8277 8434 8809 9469 952 960	Homo sapiens (human)	DisGeNET DisGeNET
DOID:10211	cholelithiasis	ACAT2 ACSS2 ALDOA BPGM CAT COMT CYP17A1 CYP27A1 CYP7A1 CYP8B1 DPEP1 G6PD GNE GPX1 GPX3 GUSB HK1 MICA OGG1 PFKM PKLR PLA2G10 PLA2G15 PLA2G2A PNPLA3 PTGS2 SLC35A2 SMPD1 SMUG1 ST8SIA4 SULT1E1 TPI1 UGGT1 UGT1A10 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9	10020 100507436 1312 1581 1582 1586 1593 1800 226 23583 23659 2539 2876 2878 2990 3098 39 4968 5213 5313 5320 54575 54576 54577 54578 54579 54600 54657 54658 54659 55902 56886 5743 6609 669 6783 7167 7355 7903 80339 8399 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0080325	tuberous sclerosis 2	NTHL1 PKD1 PTEN	4913 5310 5728	Homo sapiens (human)	DisGeNET
DOID:14271	acute cholangitis	CAT	847	Homo sapiens (human)	DisGeNET
DOID:0110828	Usher syndrome type 3 Aliases: USH3	ARSG ASAH1 PLD4	122618 22901 427	Homo sapiens (human)	DisGeNET DisGeNET
DOID:1134	gingival recession Aliases: Gingival recession, localized localized gingival recession minimal gingival recession moderate gingival recession severe gingival recession	FIG4 LCT	3938 9896	Homo sapiens (human)	DisGeNET
DOID:0110811	hereditary spastic paraplegia 6 Aliases: FSP3 SPG6 autosomal dominant familial spastic paraplegia type 3 autosomal dominant spastic paraplegia 6 autosomal dominant spastic paraplegia type 6	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)	DisGeNET
DOID:0060746	basal laminar drusen Aliases: cuticular drusen drusen of bruch membrane early adult-onset grouped drusen	RPE	6120	Homo sapiens (human)	DisGeNET
DOID:6873	skin tag Aliases: Fibroepithelial polyp Fibroepithelial polyp of skin cutaneous tag soft fibroma	AMACR CD44 CYP24A1 G6PD GALK1 GLB1 GPC3 HPSE ICAM1 LGALS3 LGALS9 MTAP NSDHL PARP1 PIK3CA PKD1 PKM PLA2G6 PLCB4 PTEN PTGS2 RECK SDHB SDHC SDHD SIRT6 STS VCAN	10855 142 1462 1591 23600 2539 2584 2719 2720 3383 3958 3965 412 4507 50814 51548 5290 5310 5315 5332 5728 5743 6390 6391 6392 8398 8434 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0050332	enlarged vestibular aqueduct	RENBP SMUG1	23583 5973	Homo sapiens (human)	DisGeNET
DOID:13628	favism	ACSL4 ALDOA CAT CD55 G6PD GPI HK1 NDUFAB1 PKLR TPI1 UGT8	1604 2182 226 2539 2821 3098 4706 5313 7167 7368 847	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110055	amelogenesis imperfecta type 3A Aliases: ADHCAI amelogenesis imperfecta hypomineralization type amelogenesis imperfecta type III autosomal dominant amelogenesis imperfecta hypocalcification type	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:4265	angiomyoma Aliases: vascular leiomyoma	SDHB	6390	Homo sapiens (human)	DisGeNET
DOID:13042	persistent fetal circulation syndrome Aliases: Fetal circulation Persistent fetal circulation Persistent foetal circulation congenital alveolar capillary dysplasia with misalignment of pulmonary veins persistent foetal circulation syndrome persistent pulmonary hypertension of the newborn	PTEN	5728	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0070265	congenital disorder of glycosylation type IIm Aliases: SLC35A2-CDG congenital disorder of glycosylation type 2m developmental and epileptic encephalopathy 22 epileptic encephalopathy, early infantile, 22	SLC35A2	7355	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:1614	male breast cancer Aliases: malignant neoplasm of male breast neoplasm of male breast	CYP17A1 CYP19A1 CYP1B1 HSD17B1 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SMUG1	1545 1586 1588 23583 3292 5290 5291 5293 5294 5728	Homo sapiens (human)	DisGeNET
DOID:0080488	mucolipidosis	GNPTAB NEU1	4758 79158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	ACE AMACR ARSA CANX CAT CD44 CYP4F3 DGAT2 FIG4 GBA1 GPX2 HADHB HK1 HPSE LCAT LPIN1 MAG MTM1 MTMR2 PGK1 PGM1 PLCB4 PLCE1 PRNP PRPS1 PTGS2 SIGLEC7 SPTLC1 SPTLC2	10558 10855 1636 23175 23600 2629 27036 2877 3032 3098 3931 4051 4099 410 4534 51196 5230 5236 5332 5621 5631 5743 821 84649 847 8898 9517 960 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:6929	retinal edema	CD38 ENO2 IDS SHMT1	2026 3423 6470 952	Homo sapiens (human)	DisGeNET
DOID:0060311	adenoid hypertrophy Aliases: adenoidal hypertrophy enlarged adenoids	SFTPA1 SFTPA2 SFTPD	6441 653509 729238	Homo sapiens (human)	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
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:9282	ocular hypertension	ACSM3 AKR1B1 CYP1B1 HPSE2 TPI1	1545 231 60495 6296 7167	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0060576	3MC syndrome 2	COLEC11 MASP1	5648 78989	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110790	hereditary spastic paraplegia 39 Aliases: NTE-related motor neuron disorder NTEMND SPG39 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 spastic paraplegia due to NTE mutation spastic paraplegia due to neuropathy target esterase mutation	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)	DisGeNET DisGeNET Alliance of Genome Resources

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