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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 **9776 - 9800** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1	B4galt7	218271	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:288	endometriosis of uterus Aliases: Endometriosis interna Endometriosis of myometrium Endometriosis, myometrium adenomyosis uterine Adenomyosis	Dnmt1	13433	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:823	periapical periodontitis Aliases: Apical periodontitis	Ccl2 Ccl7 Cxcr2 Tnfrsf11b	24770 25341 287561 29385	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:12556	acute kidney tubular necrosis Aliases: ATN - acute tubular necrosis acute renal Failure with tubular necrosis acute renal failure with lesion of tubular necrosis acute tubular necrosis acute tubule necrosis	BMP7 HAVCR1 NOG TEK	26762 655 7010 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111308	familial febrile seizures 11 Aliases: FEB11 familial febrile convulsions 11	CPA6	57094	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112182	mismatch repair cancer syndrome Aliases: BTP1 syndrome BTPS1 CMMR-D syndrome CMMRDS MMR deficiency Turcot syndrome brain tumor-polyposis syndrome 1 childhood cancer syndrome constitutional mismatch repair deficiency syndrome	MLH1 MSH2 MSH6 POLE RNASET2 SLC22A9 TGFBR2 TP53	114571 2956 4292 4436 5426 7048 7157 8635	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060445	congenital stromal corneal dystrophy Aliases: CSCD congenital hereditary stromal dystrophy	Dcn	29139	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:350	mastocytosis Aliases: mast cell hyperplasia	IL13 IL5RA KIT	3568 3596 3815	Homo sapiens (human)	Alliance of Genome Resources
DOID:654	overnutrition	NOS3	4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110542	autosomal dominant nonsyndromic deafness 10 Aliases: DFNA10 autosomal dominant deafness 10	EYA4	2070	Homo sapiens (human)	Alliance of Genome Resources
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	CAT EPAS1 ICAM1 MBL2 NDST1 NPSR1 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD SOD1 VEGFA	2034 3340 3383 387129 4153 6439 6440 6441 653509 6647 729238 7422 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:2994	germ cell cancer Aliases: malignant tumor of the germ cell	SNRPA SNRPB2	6626 6629	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080555	congenital disorder of glycosylation Ic Aliases: congenital disorder of glycosylation 1c	alg6	445327	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:3323	Sandhoff disease Aliases: Sandhoff Jatzkewitz disease	HEXB	3074	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:768	retinoblastoma Aliases: RB RB - Retinoblastoma neuroblastoma of Retina	cadm2	448238	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	Cdh1 Ctnnb1 Minpp1 Myc Tp53	24577 24842 29688 83502 84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:2211	factor XIII deficiency Aliases: Factor XIII deficiency disease Hereditary factor XIII deficiency disease deficiency, Laki-Lorand factor	F13a1	60327	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080628	alopecia-mental retardation syndrome 1	Ahsg	25373	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050902	medulloblastoma Aliases: CNS PNET CPNET Medulloblastoma, histologically defined brain medulloblastoma infratentorial primitive neuroectodermal tumor localized primitive neuroectodermal tumor	Ctnnb1 Ifng Pdgfra Smo Tp53	24842 25267 25273 25712 84353	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	Ca-alpha1D para	32619 34950	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:3042	allergic contact dermatitis	W01F3.2 ver-1 ver-3 ver-4 zmp-2 zmp-3 zmp-4	175182 175383 178748 179991 180351 181289 186632	Caenorhabditis elegans	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:0070111	Niemann-Pick disease type A	PPN1	852063	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110156	Charcot-Marie-Tooth disease type 2B1 Aliases: CMT2B1 Charcot-Marie-Tooth disease neuronal type 2B1 Charcot-Marie-Tooth neuropathy type 2B1 autosomal recessive Charcot-Marie-Tooth disease type 2B1 autosomal recessive axonal CMT4C1 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1	LMNA	4000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081002	Cowden syndrome 6	Akt1	11651	Mus musculus (house mouse)	Alliance of Genome Resources

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