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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **5176 - 5200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1	PLOD1	5351	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060639	permanent neonatal diabetes mellitus Aliases: PDMI PNDM permanent diabetes mellitus of infancy	ABCC8 GCK INS KCNJ11	2645 3630 3767 6833	Homo sapiens (human)	Alliance of Genome Resources
DOID:10652	Alzheimer's disease Aliases: Alzheimer disease Alzheimers dementia	A2M ABAT ABCA1 ACADVL ACE ACHE ADAM10 ADAM17 ADAM2 ADAM9 ADIPOQ ADRA1A ADRB3 AGER AGT AGTR1 AIFM1 AKR7A2 ALDH2 ALOX15 ANK2 ANXA5 AOC3 APBB1 APC APLP1 APLP2 APOA1 APOA4 APOD APOE APP AQP4 ASS1 ATF2 ATM ATP5F1A ATP7A ATR BACE1 BACE2 BAD BAIAP2 BARHL1 BAX BCHE BDNF BPTF C2 C3 C5AR1 CALML5 CAMK2A CAPN1 CASP6 CASP7 CASP9 CAST CCL5 CCR1 CCR5 CD36 CD40LG CDC42 CDK5 CDK7 CEBPB CFTR CHAT CHRNA4 CHRNA7 CLOCK CLU CTNNB1 CTSD CTSS CYP19A1 CYP46A1 CYP51A1 DBN1 DLST DNM1 DNM1L DRD1 DRD2 DRD3 DRD4 DRD5 DYNC1H1 E2F1 ECE1 EEF1A2 EEF2 EGF EGR1 EIF2AK2 EIF2S1 ELK1 ENO1 EP300 EPHA4 EPO EPOR ESR1 FADD FAS FGFR1 FOXO3 GAPDH GAPDHS GCG GDNF GLUD1 GLUL GNAS GRIN1 GRIN2A GRIN2B GRN GSK3B GSTO1 GSTO2 HADHA HADHB HBA1 HBA2 HFE HIF1A HIVEP1 HIVEP2 HIVEP3 HLA-DRB1 HMGCR HNRNPA1 HNRNPA2B1 HRAS HSD17B10 HSD17B3 HSD3B2 HSF1 HSP90AA1 HSPA1A HSPA1B HSPA9 HSPB1 HSPD1 HTR1A HTR2A ICAM1 IGF1R IGF2 IGFBP2 IGFBP3 IKBKB IL10 IL1A IL2 IL3 IL4 IL6 IL6R IL6ST IL7 INS INSR IREB2 IRS1 IRS2 ITPR1 KCNC4 KCNMA1 KLK6 L1CAM LDLR LEP LIPC LPA LPL LRP1 LRP8 LRPAP1 MAOA MAP2 MAPK14 MAPK9 MAPT MBL2 MCM2 MME MMP2 MMP9 MRE11 MT1E MT1H MT2A NBN NCAM1 NCSTN NDUFB8 NDUFS3 NECTIN2 NEFL NEFM NFE2L2 NGF NGFR NOS1 NOS2 NOS3 NOTCH4 NRG1 NRP1 NTF3 NTRK1 NTRK2 OPA1 PAK1 PARP1 PAWR PCK1 PCMT1 PCSK1N PDGFB PEBP1 PHACTR2 PITRM1 PLAU PLCB1 PLCD1 PLCG1 PON1 PON2 PON3 PPARA PPARG PPARGC1A PPP1R9B PSMC5 PTGS1 PTGS2 RCOR1 REG1A RELN SELL SELP SERPINE2 SERPINF1 SIRT1 SIRT3 SLC18A3 SLC2A1 SLC2A3 SLC8A1 SLC8A2 SLC8A3 SNAP91 SNCA SNCB SNCG SNRNP70 SNRPA SOD1 SOD2 SORL1 SOX13 SOX5 SOX6 SPINT1 STAT3 SYP TARDBP TBP TFAM THBD TLR4 TM2D1 TM2D2 TM2D3 TMED10 TNF TNFRSF1A TNFRSF1B TOMM40 TPH1 TSC2 TTR UQCRC1 VEGFA VIM VLDLR XRN1	10059 102 1020 1022 10452 10458 1051 10531 1080 10858 10891 10972 1103 1137 1139 1191 119391 1230 1234 1386 142 1432 148 1499 1509 1520 155 1588 1595 1627 1636 1743 1759 177 1778 18 1812 1813 1814 1815 1816 183 185 1869 1889 19 1917 1938 1950 1958 1965 2 2002 2023 2033 2043 2056 2057 2099 217 2186 2260 2309 23186 23236 23385 23410 23411 23435 23621 246 2515 25825 2597 26330 2641 2668 27344 2746 2752 2778 287 2896 2902 2903 2904 2932 3028 3030 3032 3039 3040 3077 308 3084 3091 3096 3097 3123 3156 3178 3181 322 324 3265 3284 3293 3297 3303 3304 3313 3315 3320 3329 333 334 335 3350 3356 337 3383 347 348 3480 3481 3485 3486 351 355 3551 3552 3558 3562 3565 3569 3570 3572 3574 3586 361 3630 3643 3658 3667 37 3708 3749 3778 3897 3949 3952 3990 4018 4023 4035 4043 4128 4133 4137 4153 4171 43 4311 4313 4318 4361 445 4493 4496 4502 4683 4684 4714 472 4722 4741 4747 4780 4803 4804 4842 4843 4846 4855 4908 4914 4915 4976 498 5037 5058 5074 5105 5110 5155 5176 51806 5270 5328 5333 5335 538 5444 5445 5446 54464 545 5465 5468 55553 5601 5610 5649 5653 56751 5705 572 5742 5743 581 5819 590 59269 5967 627 6352 6402 6403 6513 6515 6543 6546 6547 6572 6620 6622 6623 6625 6626 6647 6648 6653 6660 6692 6774 6855 6868 6908 7019 7056 7099 7124 7132 7133 7166 717 718 7249 7276 728 7384 7422 7431 7436 7804 80213 815 823 831 83877 839 83941 840 842 84687 8574 8639 8660 8754 8772 8829 9131 9370 9446 948 9575 9580 959 9749 9892 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:5627	adenosquamous gallbladder carcinoma Aliases: Adenosquamous carcinoma of the gallbladder	DDR2	4921	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080339	familial erythrocytosis 4 Aliases: ECYT4	EPAS1	2034	Homo sapiens (human)	Alliance of Genome Resources
DOID:870	neuropathy Aliases: peripheral neuropathy	CTSS MPZ NEMF NRG1 YARS1	1520 3084 4359 8565 9147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070120	Meckel syndrome 6 Aliases: MKS6 Meckel-Gruber syndrome, type 6	CC2D2A	57545	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111100	maturity-onset diabetes of the young type 2 Aliases: MODY glucokinase-related MODY type 2 MODY2	GCK	2645	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111037	glycine N-methyltransferase deficiency Aliases: GNMT deficiency hypermethioninemia due to GNMT deficiency hypermethioninemia due to glycine N-methyltransferase deficiency	GNMT	27232	Homo sapiens (human)	Alliance of Genome Resources
DOID:11151	cholecystolithiasis	PLA2G2A UGT1A1	5320 54658	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060272	pontocerebellar hypoplasia type 3	PCLO	27445	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090125	brain small vessel disease 1 Aliases: BSVD1 COL4A1-related brain small vessel disease with hemorrhage COL4A1-related familial vascular leukoencephalopathy COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy brain small vessel disease with Axenfeld-Riegar anomaly brain small vessel disease with hemorrhage brain small vessel disease with or without ocular anomalies infantile hemiparesis leukoencephalopathy with Axenfeld-Riegar anomaly	COL4A1	1282	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111865	MEND syndrome Aliases: male EBP disorder with neurological defects	EBP	10682	Homo sapiens (human)	Alliance of Genome Resources
DOID:11123	Henoch-Schoenlein purpura Aliases: Allergic purpura Autoimmune purpura Henoch-Sch?nlein purpura Henoch-Sch@nlein purpura Henoch-Scholein purpura Henoch-Schonlein Purpura Purpura, autoimmune	ACE AGT CCL2 CD86 HLA-DQA1 IL1RN IL5 KNG1 MEFV PLAT PON1	1636 183 3117 3557 3567 3827 4210 5327 5444 6347 942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111972	immunodeficiency 19 Aliases: CD3-delta deficiency IMD19 SCID T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive	CD3D	915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111269	autosomal dominant hyaline body myopathy Aliases: MSMA Myopathy, myosin storage, autosomal dominant congenital myopathy 7A myopathy with lysis of type I myofibrils	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:9563	bronchiectasis Aliases: Polynesian bronchiectasis	CFTR MBL2 MMP9 TAP1 TNF	1080 4153 4318 6890 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111849	osteogenesis imperfecta type 20 Aliases: OI20 osteogenesis imperfecta type XX	MESD	23184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060241	3-M syndrome Aliases: Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three M syndrome	CUL7 OBSL1	23363 9820	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110648	long QT syndrome 6 Aliases: LQT6	KCNE2	9992	Homo sapiens (human)	Alliance of Genome Resources
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	ABCB1 AKT2 ANGPT2 AREG ASPM ATRX BAD BARHL1 BCAN BDKRB2 BRCA2 BRD7 CAMK2A CAMKK2 CCN1 CD80 CHAF1A CHAF1B CNTN2 CSF1 CTSB CXCR3 CYP2E1 DCN DDR1 DLK1 E2F1 EFEMP1 EGF EGFR ENTPD2 EPO EPOR ERBB2 ERCC5 F2 FGFR1 FGFR2 FGFR3 FGFR4 FLT3LG HDAC3 HELLS HGF HMGB1 HRAS HSPA5 IDH1 IDH2 IFNG IGF1R IGFBP3 IL10 IL2 IL7 INSR INSRR KDM5B KDR KRAS LGALS3 LTA MAP2K1 MAPKBP1 MET MKI67 MMP2 MTOR NADSYN1 NF1 NOS3 NRAS PCMT1 PDGFA PDGFB PIK3CB PIK3CD PIK3R3 PLAU POLE PRKCA PTEN RAF1 RNF43 SERPINE1 SETDB1 SH3GL1 SIRT2 SLC44A1 SLC6A3 SLC7A5 SOX6 SPHK1 SPP1 ST6GAL1 TNC TNF TP53 WDR62 XRCC1	10036 10645 10765 1435 1508 1571 1634 1869 1950 1956 2056 2057 2064 2073 208 2147 2202 2260 2261 2263 2264 22933 23005 2323 23446 2475 259266 2833 284403 285 29117 3070 3082 3146 3265 3309 3371 3417 3418 3458 3480 3486 3491 3558 3574 3586 3643 3645 374 3791 3845 3958 4049 4233 4288 4313 4763 4846 4893 5054 5110 5154 5155 5243 5291 5293 5328 5426 546 54894 55191 55553 5578 5604 56751 572 5728 5894 624 63827 6455 6480 6531 6696 675 6900 7124 7157 7515 780 8140 815 8208 8503 8788 8841 8877 941 954 9869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	BLTP1	84162	Homo sapiens (human)	Alliance of Genome Resources
DOID:3602	toxic encephalopathy Aliases: neurotoxicity neurotoxicity syndrome	ABCB1 ABCG2 CAT DRD2 EPHA4 IGF1R IL10 SLC18A2	1813 2043 3480 3586 5243 6571 847 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050858	Marshall-Smith syndrome	NFIX	4784	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110200	Charcot-Marie-Tooth disease dominant intermediate D Aliases: CMTDID Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD autosomal dominant intermediate Charcot-Marie-Tooth disease type D	MPZ	4359	Homo sapiens (human)	Alliance of Genome Resources

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