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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 **6176 - 6200** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3890	acute intermittent porphyria Aliases: AIP - acute intermittent porphyria Pyrroloporphyria porphyria intermittent acute	ARSA CAT CYP3A5 CYP4F3 DEGS1 DPAGT1 ENO1 SMUG1	1577 1798 2023 23583 4051 410 847 8560	Homo sapiens (human)	DisGeNET
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	ACE ACOT7 ENO2 EPHX2 GAD1 GAD2 GLUL ICAM1 MGAT1 MICA NPY1R PLD1 PLD2 PRNP PTGS2 RGMA SC5D SEMA7A SMUG1	100507436 11332 1636 2026 2053 23583 2571 2572 2752 3383 4245 4886 5337 5338 5621 56963 5743 6309 8482	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0050777	Joubert syndrome Aliases: JBTS	ATP6V0A2 ATP6V1A B3GALNT2 B4GAT1 CRPPA DAG1 DHCR24 DLST FIG4 FKRP FKTN GYS2 HSPG2 INPP5B INPP5E LARGE1 NSDHL PAFAH1B1 PIGP PIGQ POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 SDC2 STS SYNJ1 SYNJ2 TMTC3	10329 10585 11041 148789 160418 1605 1718 1743 2218 23545 29954 2998 3339 3633 412 5048 50814 51227 523 55624 56623 6383 729920 79147 84197 84892 8867 8871 9091 9215 9896	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2962	Cockayne syndrome Aliases: Neill-Dingwall syndrome	ACADS AKR1B1 ALDH2 AMT ANXA5 ARSA ARSD B4GALT7 BAAT CAT CD38 CHPT1 COMT CYP11A1 CYP3A5 DAG1 DCN DHDDS FOLR1 GALNT14 GAPDH GCSH GLB1 GLDC GPI HSPG2 KL OGG1 OLR1 PARP1 PCYT1A PGAM2 PIK3CA PIK3CB PIK3CD PIK3CG PKM PRNP PTEN SGPL1 SMC3 STS TNKS XYLT2	11285 1312 142 1577 1583 1605 1634 217 231 2348 2597 2653 2720 2731 275 2821 308 3339 35 410 412 414 4968 4973 5130 5224 5290 5291 5293 5294 5315 5621 56994 570 5728 64132 79623 79947 847 8658 8879 9126 9365 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:519	aortitis	ABO CYP1A1 PCYT1A SMUG1	1543 23583 28 5130	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	CALR	811	Homo sapiens (human)	DisGeNET
DOID:12930	dilated cardiomyopathy Aliases: primary dilated cardiomyopathy	ABO ACACA ACADVL ACE ALDH7A1 ATP6AP2 BDH1 CAT CHI3L1 CHKB CPT1A CPT2 CS CYP11B2 CYP19A1 CYP1A1 CYP1A2 CYP2C19 CYP2E1 DAG1 DBT DOLK ECI1 ENO1 FADS2 FASN FKRP FKTN FUT3 GBE1 GLB1 GPX1 GPX3 HACD1 HADH HADHA HADHB HJV HMGCL HPRT1 HSD17B2 ICAM1 IDH1 IL18R1 IL1RL1 KL LDHA LEPR LGALS3 LPL LY75 MBL2 MDH1 MGAM MGAT1 MICA MMUT MPI MRC1 MTM1 NAMPT NCAM1 NDUFAB1 PCCA PCCB PCYT1A PGM1 PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PLB1 PNPLA2 POMT2 PPARGC1A PRG2 PRKAA2 PTEN PTGS2 RBP4 RENBP SCD SDC1 SDC4 SDHA SDHB SDHD SLC2A10 SLC2A4 SLC35B2 SLC5A1 SMUG1 SRGN ST3GAL4 SULF2 SULT1E1 TM7SF2 TNF TP53 UGT8 VTCN1	100507436 10135 10159 10891 1116 1120 1374 1376 1431 148738 151056 1543 1544 1557 1571 1585 1588 1605 1629 1632 1636 2023 2194 2218 22845 23583 2525 2632 2720 28 2876 2878 29954 3030 3032 3033 31 3155 3251 3294 3383 3417 347734 37 3939 3953 3958 4023 4065 4153 4190 4245 4351 4360 4534 4594 4684 4706 501 5095 5096 5130 5236 5290 5291 5293 5294 5552 5553 5563 55959 57104 5728 5743 5950 5973 622 6319 6382 6385 6389 6390 6392 6484 6517 6523 6783 7108 7124 7157 7368 79147 7941 79679 81031 847 8809 8972 9173 9200 9365 9415	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060600	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum	ACACA 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 31 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
DOID:10192	pleomorphic lipoma	ACAN ALPP AMACR ATRNL1 BAAT CPM DCN PIK3CA PTEN PYGM SDHB SDHC SDHD SIRT6 SMUG1	1368 1634 176 23583 23600 250 26033 51548 5290 570 5728 5837 6390 6391 6392	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:8593	chronic monocytic leukemia	ACHE AKR1B1 CD14 CD33 CD38 CDH13 CEACAM5 CYP3A5 DLD EBP ETNK1 FCER2 FCGR3B FUT4 G6PD HPGDS ICAM1 IDH1 IDH2 IL18R1 KLRK1 LARGE1 LYZ MACROD1 MOGS NCAM1 PAFAH1B1 PARP1 PCYT1A PIK3C2A PIK3CA PIK3CB PIK3CD PIK3CG PPP1R3A PTEN PTGS2 SIGLEC7 SMC3 SOAT1 VCAM1 XYLT2	1012 1048 10682 142 1577 1738 2208 2215 22914 231 2526 2539 27036 27306 28992 3383 3417 3418 4069 43 4684 5048 5130 5286 5290 5291 5293 5294 5506 55500 5728 5743 64132 6646 7412 7841 8809 9126 9215 929 945 952	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:6726	fibrillary astrocytoma Aliases: Fibrillary Astrocytic tumors	ACHE ACSL5 ADH1A ADH1B ADH1C ADH4 ADH6 AKR1A1 AKR1B1 AKR1C3 ALOX5 APRT ATRN B3GAT1 BDH2 BST2 CALR CAT CD248 CD44 CD55 CD74 CHI3L1 CHST15 CNTN2 CS CYP1B1 CYP4F3 ENPP1 EXT1 FCN2 FKTN G6PD GLB1 GOLPH3 HAS2 HJV HMMR HPGDS HPSE ICAM1 IDH1 IDH2 LGALS3 LGALS4 MMP25 MRC1 NEU1 PARP1 PFKFB3 PFKFB4 PGAM1 PGK1 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLA2G10 PLA2G2A PLA2G4A PLB1 PLCB1 PLD1 PLD2 PRNP PRPS1 PTEN PTGDS PTGES PTGS2 RECK RTN4R SDC4 SDHA SGPL1 SLC2A3 SMUG1 SPHK2 ST8SIA2 ST8SIA4 STS TM7SF2 TNKS TYMP VCAM1 VCAN XYLT1	10327 10855 1116 124 125 126 127 130 142 1431 1462 148738 151056 1545 1604 1890 2131 2218 2220 231 23236 23583 240 2539 27087 2720 27306 3037 3161 3383 3417 3418 353 3958 3960 4051 412 43 4360 4758 51363 5167 51703 5209 5210 5223 5230 5290 5291 5293 5294 5310 5320 5321 5337 5338 5621 5631 56848 56898 57124 5728 5730 5743 6385 6389 64083 64131 64386 65078 6515 684 6900 7108 7412 7903 811 8128 8399 8434 8455 847 8644 8658 8879 9536 960 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:431	myofascial pain syndrome	PTGS2	5743	Homo sapiens (human)	DisGeNET
DOID:0080558	congenital disorder of glycosylation If Aliases: congenital disorder of glycosylation 1f	ALG3 MPDU1	10195 9526	Homo sapiens (human)	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:655	inherited metabolic disorder Aliases: Inborn Errors of Metabolism Metabolic hereditary disorder inborn metabolism disorder	ACADM ACAT1 ACSF3 AGXT ALG11 ALPL CHKB CYP27A1 ECHS1 FUT1 G6PD GALK1 GALT GCDH GLA GLB1 GPD1 HADHA HAO1 HAO2 HEXA HEXB HIBCH HPRT1 HSD11B2 IDUA LCAT LDHB MLYCD MMUT MRC1 PDHA1 PLA2G4A PLA2G7 PMM2 SGPL1 SLC37A4 STS SUMF1 TKT TNKS TPI1 TYMP	1120 1593 189 1890 1892 197322 23417 249 2523 2539 2542 2584 2592 26275 2639 2717 2720 2819 285362 3030 3073 3074 3251 3291 34 3425 38 3931 3945 412 4360 440138 4594 51179 5160 5321 5373 54363 7086 7167 7941 8658 8879	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:3864	adult medulloblastoma Aliases: adult brain medulloblastoma	ACHE ALOX5 APRT ASAH1 CALR CANX CD1D CHPT1 COL9A2 CYP1A1 CYP1B1 CYP2B6 CYP3A5 DAG1 DHDDS EFNA5 FOLR1 FUT4 GPC3 GYS2 HK2 HPGDS HPSE IDH1 IDH2 IDUA INPP5E LDHA LDHB MMUT NT5E PAFAH1B1 PARP1 PCYT1A PIK3CA PIK3CB PIK3CD PIK3CG PKM POMGNT1 PTEN PTGDS PTGS2 SDC1 SIGLEC7 SULT1E1 TDG TNKS TREH VCAN	10855 11181 1298 142 1462 1543 1545 1555 1577 1605 1946 2348 240 2526 27036 2719 27306 2998 3099 3417 3418 3425 353 3939 3945 427 43 4594 4907 5048 5130 5290 5291 5293 5294 5315 55624 56623 56994 5728 5730 5743 6382 6783 6996 79947 811 821 8658 912	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:13099	Moyamoya disease Aliases: progressive intracranial arterial occlusion	GLA PKD1 SLC2A10 SMPDL3B	2717 27293 5310 81031	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0110737	neurodegeneration with brain iron accumulation 3 Aliases: Adult basal ganglia disease Ferritin-related neurodegeneration Hereditary ferritinopathy NBIA3 Neuroferritinopathy Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset	AKR1B10 PLA2G1B PLA2G6 PLB1	151056 5319 57016 8398	Homo sapiens (human)	DisGeNET DisGeNET
DOID:0080200	bilateral renal aplasia	DHCR24 DHCR7 FREM1 GAS1 HS6ST1 NSDHL	158326 1717 1718 2619 50814 9394	Homo sapiens (human)	DisGeNET
DOID:0060319	cardiac arrest Aliases: cardiopulmonary arrest circulatory arrest	ACE ACHE ACLY ACSS2 ADH5 AKR1B10 ARSA CACNA2D1 CALR CAT CYP46A1 ELOVL4 ELOVL5 ENO2 G6PD GAD2 GBA1 GPC5 HK2 HMGCL HPGDS HPSE HSD11B2 ICAM1 LGALS3 LIPA LTC4S MASP2 MBL2 MGLL NCAM1 NT5E PIK3CA PIK3CD PIK3CG PLA2G15 PLA2R1 PLB1 PTGS1 PTGS2 SCD SDC1 SELE SLC2A10 TM7SF2 TNF UGCG UGT1A10 UGT1A1 UGT1A4 UGT1A6 UGT1A7 UGT1A8	10747 10855 10858 11343 128 151056 1636 2026 2262 22925 23659 2539 2572 2629 27306 3099 3155 3291 3383 3958 3988 4056 410 4153 43 4684 47 4907 5290 5293 5294 54575 54576 54577 54578 54657 54658 55902 57016 5742 5743 60481 6319 6382 6401 6785 7108 7124 7357 781 81031 811 847	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060368	Parkinson's disease 2 Aliases: autosomal recessive juvenile Parkinson disease 2 autosomal recessive juvenile Parkinson's disease 2	CNTN5 CNTN6 GBA1 PARP1 SYNJ1	142 2629 27255 53942 8867	Homo sapiens (human)	DisGeNET
DOID:9476	Sheehan syndrome Aliases: Postpartum Hypopituitarism Sheehan's syndrome	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:0110256	cataract 21 multiple types Aliases: CTRCT21 cataract 21 multiple types with or without microcornea	AGK ALDH7A1 CRYL1 CYP27A1 GALK1 GCNT2 GPC5 INPP5K LSS OCRL PTEN SLC33A1 SORD	1593 2262 2584 2651 4047 4952 501 51084 51763 55750 5728 6652 9197	Homo sapiens (human)	DisGeNET
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	CEL	1056	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia	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:10688	hypertrophy of breast Aliases: breasts enlarged large breast	CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 CYP3A4 HS6ST1 HSD17B3 HSD3B2 PIK3CA PNPLA6 PTEN SDHB SDHC SDHD SMUG1	10908 1576 1583 1584 1586 1588 1589 23583 3284 3293 5290 5728 6390 6391 6392 9394	Homo sapiens (human)	DisGeNET

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