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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 **2701 - 2725** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0060256	Dowling-Degos disease Aliases: dark dot disease reticular pigment anomaly of flexures	ACAN COL9A2 COMT POFUT1 POGLUT1	1298 1312 176 23509 56983	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:2215	factor VII deficiency Aliases: deficiency, stable	LMAN1 MCFD2 NGLY1 PC	3998 5091 55768 90411	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	ABO ACE ACSM3 CALR CAT CD74 CHKA CYP2C19 DHCR24 FCN1 G6PD GAD1 GAD2 GCDH GLA GLUL GOT1 GPX1 GPX3 ICAM1 LTC4S MCFD2 NAMPT OGG1 OLR1 PARP1 PCNA PIGA PIK3CA PIK3CB PIK3CD PIK3CG PLA2G7 PTEN PTGIS PTGS1 PTGS2 SELL SELP SIRT6 SMPD3 SULT1E1 TNF UCP2	10135 1119 142 1557 1636 1718 2219 2539 2571 2572 2639 2717 2752 28 2805 2876 2878 3383 4056 4968 4973 5111 51548 5277 5290 5291 5293 5294 55512 5728 5740 5742 5743 6296 6402 6403 6783 7124 7351 7941 811 847 90411 972	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060728	NGLY1-deficiency Aliases: NGLY1-CDDG congenital disorder of deglycosylation congenital disorder of glycosylation type Iv deficiency of N-glycanase 1	ENGASE NGLY1 PGM1	5236 55768 64772	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:585	nephrolithiasis Aliases: Stone - kidney/ureter kidney stones	AGPAT2 AGXT ALPL ALPP APRT ATRNL1 CAT CD14 CD44 CLC CTNS CYP24A1 CYP27A1 CYP3A5 DGKD DGKH ENO1 G6PC1 GPX1 GRHPR HAO1 HOGA1 HPGDS HPRT1 HSPG2 ITPKC KL NTNG1 OCRL PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PLCD1 SI SLC37A4 SLC3A1 UGT1A1 UMOD	10555 112817 1178 1497 1577 1591 1593 160851 189 2023 22854 249 250 2538 2542 26033 27306 2876 3251 3339 353 4952 5290 5291 5293 5294 5310 5333 54363 54658 6476 6519 7369 80271 847 8527 929 9365 9380 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0111068	congenital bile acid synthesis defect 4 Aliases: CBAS4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid trihydroxycoprostanic acid in bile	AMACR HSD17B4	23600 3295	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110228	cataract 8 multiple types Aliases: CCV CTRCT8 cataract, congenital, Volkmann type	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:0060763	X-linked juvenile retinoschisis 1 Aliases: X-linked juvenile retinoschisis X-linked retinoschisis XLRS	PAFAH1B1 SLC5A1	5048 6523	Homo sapiens (human)	DisGeNET
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type Aliases: SEDK	ACAN	176	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110062	amelogenesis imperfecta hypomaturation type 2A4 Aliases: AI2A4 amelogenesis imperfecta hypomaturation type IIA4 amelogenesis imperfecta type IIA4	AKR1C1 AKR1C2 MMP25 TMEM165	1645 1646 55858 64386	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET
DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type Aliases: Spondylar and nasal Alterations-Striated Metaphyses syndrome sponastrime dysplasia	CTNS CYP51A1 EHHADH GPX3 IGF2R NAGLU OCRL SLC2A2 VNN1 VNN2	1497 1595 1962 2878 3482 4669 4952 6514 8875 8876	Homo sapiens (human)	DisGeNET DisGeNET
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ACACA ACE ACHE ACLY ACOT8 ACSS1 ACSS2 ADH1A ADH1B ADH1C ADH7 AGL AKR1A1 AKR1B10 AKR1C1 AKR1C2 AKR1C3 AKT1 ALDH1A3 ALDH1B1 ALDH3A1 ALDH3A2 ALDH7A1 ALG13 ALG1 ALOX15B ALOX5 AMACR ANXA4 ANXA5 APRT ARSF ATRNL1 B3GALNT1 B3GAT1 B3GNT3 BAAT BAD CA4 CACNA2D2 CALR CAT CBR1 CD14 CD177 CD1D CD33 CD38 CD44 CD55 CD74 CD93 CDH13 CEACAM5 CEACAM7 CEMIP CERS6 CHGA CHI3L1 CHKA CHODL CHPT1 CNTN1 CNTN2 COMT CRLS1 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP24A1 CYP27A1 CYP27B1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2E1 CYP2R1 CYP3A4 CYP3A5 CYP4F3 DCN DHCR24 DHDDS DHDH EFNA1 ENO1 ENO2 EXTL3 FASN FBP1 FBXO17 FCGR3B FH FOLR2 FUT4 FUT8 G6PD GALC GALNS GALNT14 GAPDH GCNT3 GFPT2 GLDC GLUL GML GOLPH3 GPC3 GPC5 GPX1 GPX3 HAGH HAS2 HAS3 HK1 HK2 HMMR HPGDS HPRT1 HPSE HS3ST2 HS3ST3B1 HSD11B2 HSD17B1 HSD17B6 HYAL1 ICAM1 IDH1 IDH2 IGF2R IL18R1 INPP4A INPP5D INPPL1 KAT2A KHK KL KLB KLRB1 KLRD1 KLRK1 L1CAM LDHA LDHB LDHC LEP LGALS1 LGALS3 LGALS9 LIPC LPCAT1 LPIN3 LPL LY6K LYPD3 LYPD5 LYPLA1 MBD4 MBL2 MCAT MDH1 MDH2 ME1 ME2 MICA MMUT MPG MRC1 MSLN MTAP MUTYH NAMPT NCAM1 NEIL1 NEU1 NEU3 NT5E NTHL1 OGG1 OPCML PAFAH1B1 PAPSS1 PARP1 PC PCK2 PDIA3 PFKFB3 PGAM1 PGK1 PIK3C2B PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PKD1 PKM PLA2G10 PLA2G2A PLA2G4A PLA2G6 PLAUR PLB1 PLCB3 PLCB4 PLCE1 PLCG1 PLCH1 POGLUT1 PPT1 PRG2 PRKAA1 PRKAA2 PRSS8 PSMD10 PTEN PTGES3 PTGES PTGIS PTGS1 PTGS2 PYGB RECK RGMB RGN RPN2 RTN4R SCD SDC4 SDHA SDHC SELE SFTPA1 SFTPA2 SFTPC SFTPD SGMS1 SHMT2 SIGLEC9 SIRT2 SIRT4 SIRT6 SLC17A5 SLC26A2 SLC2A3 SLC2A5 SLC3A2 SLC5A1 SMPD1 SMUG1 SOAT1 SPHK1 SPHK2 SRGN ST6GAL1 ST8SIA2 STS SULF2 TIGAR TM7SF2 TMTC3 TNF TNFRSF10C TNKS2 TNKS TP53 TREH TUSC3 TYMP UGCG UGP2 UGT1A1 UGT1A7 UGT1A9 ULBP1 UMPS UNG VCAM1 VTCN1 XXYLT1	10005 100507436 1012 10135 10232 10327 10331 10434 1048 10728 10825 10855 1087 1113 1116 11181 1119 115290 120227 124 125 126 1272 131 1312 140578 142 151056 152002 152831 1543 1544 1545 1555 1557 1558 1559 1571 1576 1577 1586 1588 1591 1593 1594 1604 160418 1634 1636 1645 1646 1718 178 1836 1890 1942 2023 2026 207 2137 218 219 2194 220 2203 2215 224 2262 2271 22914 22918 22933 23007 23409 2350 23583 23600 240 247 2526 2530 253782 2539 2581 2588 259230 2597 26033 2648 26503 27076 27087 27180 2719 27294 27306 2731 27349 2752 2765 284348 285704 2876 2878 2923 3029 3037 3038 307 308 3098 3099 31 3161 3251 3291 3292 3373 3383 3417 3418 3482 353 3631 3635 3636 3795 3820 3824 3897 3939 3945 3948 3952 3956 3958 3965 3990 4023 4051 412 4153 416 4190 4191 4199 4200 43 4350 4360 4507 4594 4595 4684 47 4758 4907 4913 4968 4978 501 5048 5091 5106 51196 51548 5209 5223 5230 5287 5289 5290 5291 5293 5294 5310 5315 5320 5321 5329 5331 5332 5335 54577 54600 54658 54675 54742 5538 5552 5553 5562 5563 55902 55959 56052 5652 56848 56983 56994 570 57016 57103 57126 5716 572 57214 5728 5740 5742 5743 5834 6185 6319 6385 6389 6391 6401 64083 6440 6441 6472 6480 64900 65078 6515 6518 6520 6523 653509 6609 6646 6900 7108 7124 7157 729238 7357 7360 7372 7374 7412 762 79623 79661 79679 79868 79888 7991 79947 80329 80351 811 8128 8398 8399 8434 84532 847 8630 8644 8658 8706 873 8794 8809 8877 8930 9061 9104 912 9245 9254 929 9365 945 952 9536 960 972 9945 9953 9956	Homo sapiens (human)	DisGeNET Alliance of Genome Resources
DOID:0110543	autosomal dominant nonsyndromic deafness 11 Aliases: DFNA11 autosomal dominant deafness 11	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:0080302	mixed sleep apnea Aliases: complex sleep apnea	ACE CYP1A2 CYP2J2 ENOSF1 GNE GNPTAB IDS LGALS3 NANS PTEN PTGS2	10020 1544 1573 1636 3423 3958 54187 55556 5728 5743 79158	Homo sapiens (human)	DisGeNET
DOID:3301	gonadoblastoma	CAT PGD	5226 847	Homo sapiens (human)	DisGeNET
DOID:0110724	neuronal ceroid lipofuscinosis 8 northern epilepsy variant Aliases: EPMR northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant progressive epilepsy with mental retardation, northern epilepsy progressive epilepsy-intellectual disability syndrome, Finnish type	ACLY ARSG CLN5 EPM2A GAD1 GAD2 LGALS1 PKD1 PPT1 PPT2 PSAP	1203 22901 2571 2572 3956 47 5310 5538 5660 7957 9374	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:7912	mixed oligodendroglioma-astrocytoma Aliases: WHO grade II mixed glioma	ACLY CAT CD44 CHI3L1 CNTN2 CSPG4 DHDDS ENO2 FASN GLUL HPSE HSPG2 IDH1 IDH2 LGALS1 LGALS3 MMUT PIK3CA PIK3CB PIK3CD PIK3CG PLA2G4A PLA2G4C PLCB1 PTEN PTGS2 SDHB STS SULT1E1 UGT8	10855 1116 1464 2026 2194 23236 2752 3339 3417 3418 3956 3958 412 4594 47 5290 5291 5293 5294 5321 5728 5743 6390 6783 6900 7368 79947 847 8605 960	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060291	oculodentodigital dysplasia Aliases: ODD syndrome	CYP1B1	1545	Homo sapiens (human)	DisGeNET
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	ARSA CALR CD22 CHIT1 CPT1A CYP11A1 FASN FCER2 FCN2 GALC GBA1 GBA2 GLA GLB1 GNPDA2 GPC1 ICAM1 IDUA LGALS9 LIPA NPC1 OGA PIK3CA PSAP SGPL1 SMPD1 SMPD2 SMPDL3A ST3GAL5 UGCG	10724 10924 1118 132789 1374 1583 2194 2208 2220 2581 2629 2717 2720 2817 3383 3425 3965 3988 410 4864 5290 5660 57704 6609 6610 7357 811 8869 8879 933	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:229	female reproductive system disease	CYP19A1 CYP1A1 CYP1A2 CYP2B6 LGALS9	1543 1544 1555 1588 3965	Homo sapiens (human)	DisGeNET
DOID:9268	glycine encephalopathy Aliases: Non-ketotic hyperglycinemia nonketotic hyperglycinemia	AMT B3GAT1 GCSH GLDC GLYCTK MGAT1 UGCG	132158 2653 27087 2731 275 4245 7357	Homo sapiens (human)	DisGeNET DisGeNET Alliance of Genome Resources
DOID:5815	cerebral lymphoma Aliases: brain primary lymphoma primary Lymphoma of Cerebrum primary cerebral lymphoma	SMUG1	23583	Homo sapiens (human)	DisGeNET
DOID:0111677	familial benign fleck retina Aliases: FRFB	PLA2G5	5322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M Aliases: LGMD2M MDDGC4 muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4	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)	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:1074	kidney failure Aliases: renal failure	A4GALT ACE ACSL4 ACSS2 AGL AGPAT2 AGXT AKR1B1 ALOX12B ALOX5 ALPP APRT ARSA ATP6AP2 ATRNL1 CAT CHGA COG1 CPM CPT2 CTNS CTSA CYP11B2 CYP1A2 CYP24A1 CYP2C19 CYP2C9 CYP3A4 CYP3A5 CYP4F3 DCN DEGS1 DGKE DHDDS EBP ENPP1 FCGR3B G6PC1 GCNT2 GGT1 GLA GRHPR HAGH HPRT1 HPSE2 HPSE HSD11B2 HSPG2 ICAM1 IDH2 INPP5E KL KLB LCAT LDHA LGALS3 LYZ MASP1 MBL2 ME1 MMUT MSLN NAGLU NAMPT NCAN OCRL OGA OLR1 PARP1 PGAM2 PGK1 PIK3C3 PKD1 PKD2 PLA2G15 PLA2G7 PNPLA3 PNPLA6 PPARGC1A PRKAA2 PRPS1 PTGS1 PTGS2 PYGM RENBP RGN SDC1 SDC2 SELE SELL SELP SLC17A5 SLC2A2 SLC35G1 SLC37A4 SLC3A1 SLC5A1 SMC3 SMUG1 STS SULT2B1 TLR2 TLR4 TM7SF2 TMEM260 UGT2B17 UMOD VCAM1 VCAN XYLT1 XYLT2	10135 10159 10232 10555 10682 10724 10855 10891 10908 1113 1368 1376 142 1462 1463 1497 152831 1544 1557 1559 1576 1577 1585 1591 159371 1634 1636 178 189 2182 2215 231 23583 23659 240 242 250 2538 2542 26033 26503 2651 2678 2717 3029 3251 3291 3339 3383 3418 353 3931 3939 3958 4051 4069 410 412 4153 4199 4594 4669 4952 4973 5167 5224 5230 5289 5310 5311 53947 5476 54916 5563 55902 5631 5648 56623 5742 5743 5837 5973 60495 6382 6383 6401 6402 6403 64131 64132 6514 6519 6523 6820 7097 7099 7108 7367 7369 7412 7941 79947 80339 847 8526 8560 9104 9126 9365 9380 9382	Homo sapiens (human)	DisGeNET DisGeNET DisGeNET Alliance of Genome Resources

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