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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 **5326 - 5350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia Aliases: IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia	EGF HNRNPA2B1 PSMC5 TNF VCP	1950 3181 5705 7124 7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050638	transthyretin amyloidosis Aliases: ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis	TTR	7276	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	Grn	14824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070287	primary autosomal recessive microcephaly 11 Aliases: MCPH11	ph-p	31181	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:2152	ovary epithelial cancer Aliases: Ovarian Surface epithelial-Stromal tumor	Sparc	24791	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	NCR1	856101	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:11400	pyelonephritis	Ace Ambp Bmp7 Calca Cfb Cxcr1 Il1rn Il3 Pgf Tlr1	11421 11699 12162 12310 14962 16181 16187 18654 21897 227288	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060902	Norman-Roberts syndrome Aliases: lissencephaly 2 lissencephaly syndrome, Norman-Roberts type	Reln	24718	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1852	intrahepatic cholestasis Aliases: neonatal intrahepatic cholestasis	Abcb11 Abcb4 Entpd1 Slc22a1 Slc22a2 Slc25a13	12495 18670 20517 20518 27413 50799	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110340	osteogenesis imperfecta type 4 Aliases: OI4 osteogenesis imperfecta type IV osteogenesis imperfecta with normal sclera	Col1a1 Col1a2	12842 12843	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081346	congenital myopathy 14	Myl1	17901	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050211	swine influenza	PIK3CG	5294	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081267	graft-versus-host disease Aliases: GvHD graft versus host disease	Abo Adipoq Ctla4 F3 Fas Fasl Fcgr4 Foxp3 H2-D1 H2-K1 H2-Q10 H2-Q1 H2-Q4 H2-Q6 H2-Q8 Hgf Hspa1a Hspa8 Ifng Il10 Il10rb Il1a Il1rn Il2 Mki67 Pdgfb Sell Tfpi Trp53 Vegfa	110557 11450 12477 14066 14102 14103 14964 14972 15006 15007 15015 15234 15481 15978 16153 16155 16175 16181 16183 17345 18591 193740 20343 20371 21788 22059 22339 246256 68395 80908	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070266	congenital disorder of glycosylation type IIn Aliases: CDG IIn CDG syndrome type IIn CDG2N CDGIIdn Carbohydrate deficient glycoprotein syndrome type IIn Congenital disorder of glycosylation type 2n SLC39A8-CDG	Slc39a8	67547	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14095	boutonneuse fever Aliases: African tick typhus Rickettsia conorii spotted fever South African tick-bite fever kenya tick typhus marseilles fever	C3	24232	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1123	spondyloarthropathy Aliases: spondarthropathy spondylarthrosis	col2a1	394828	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:0060770	dextro-looped transposition of the great arteries Aliases: D-TGA DTGA1 congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance	Slc19a1	29723	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CG9550	33913	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	ABCC8 GCK HK2 HK3 HKDC1	2645 3099 3101 6833 80201	Homo sapiens (human)	Alliance of Genome Resources
DOID:5176	renal Wilms' tumor Aliases: Nonanaplastic renal Wilm's tumor Nonanaplastic renal Wilm's tumour renal Wilms' tumour	Vegfa	83785	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	Cacna1s Cacng1 Ryr2	29658 682930 689560	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:10591	pre-eclampsia Aliases: gestational hypertension hypertension induced by pregnancy pre-eclamptic toxaemia preeclampsia preeclampsia/eclampsia pregnancy associated hypertension pregnancy toxemia proteinuric hypertension of pregnancy toxaemia of pregnancy	Acer Ance Cubn Egfr Glut1 Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6 ItgaPS4 ItgaPS5 N Ogg1 Spn28Dc Tl scb	31293 31806 31926 326235 34091 34189 34805 34978 34979 34981 36692 36693 36868 37104 37455 37732 38109 43222	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1612	breast cancer Aliases: breast tumor malignant neoplasm of breast malignant tumor of the breast mammary cancer mammary tumor primary breast cancer	ACE ACSL3 ADAM28 ADIPOQ ADM AGT AGTR1 AKR1A1 AKT1 ALOX12 AMH ANTXR1 ANXA7 APC APEX1 APOC3 APOE AREG ARID1A ATM ATR BAD BARD1 BAX BCAR1 BCAS2 BIRC2 BMP4 BMP6 BMP7 BRCA1 BRCA2 BTG2 CASP7 CASP9 CBS CCR5 CCR6 CD55 CDH13 CDH1 CDK13 CDK7 CDKN1B CFB CGA CHEK2 CHI3L1 CLU COMT CSF1 CSF1R CSNK2A1 CTCF CTLA4 CTSB CTSD CYB5R3 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP2C19 CYP3A4 DDR1 DLL4 EGFR EGR1 EIF3H ENG EPO EPOR ERBB2 ESR1 F10 F11R F5 F7 FANCD2 FAS FEN1 FGF8 FGFR2 FGFR3 FLT1 FOXA1 FUBP1 GHR GPX1 GRB2 HFE HGF HLA-DQA1 HLA-DRB1 HMMR ICAM1 IFNG IGF1R IGF2 IGFBP3 IGFBP6 IKBKB IL13RA2 IL6 INSR ITGA1 JUN KAT2B KAT6B KAT7 KAT8 KDM1A KDM3B KDM4C KDM5B KDM6A KDR KISS1R KLK3 KLK4 KMT2B KMT2D KMT2E KRAS L3MBTL1 LEP LHCGR LNPEP LTA MAP2K1 MAP2K2 MAP2K3 MAP3K1 MAPT MDM2 MET MGMT MKI67 MMP1 MMP3 MMP8 MRE11 MSH2 MSH6 MUC1 MYC MYD88 NBN NCOA3 NCOA6 NCOR2 NFKB1 NME1 NOD2 NOS3 NUF2 OGG1 PAK1 PDGFA PDGFRB PGF PHB1 PIK3CA PLAU PLCG1 PLPP4 PON1 PPM1D PRKAA1 PTEN PTGES3 PTGS1 PTPN13 RAC1 RAD50 RB1CC1 REL RELB RHOA RHOB RHOC RNASEL RNF20 RUNX3 SERPINE1 SETD5 SHMT1 SIX1 SKP2 SMARCA4 SNCG SNW1 SOD2 SOX2 SPINT1 SRSF5 STAT1 STAT3 SULT1E1 TET2 TFRC TGFB1 THRA TIMP1 TIMP3 TK1 TLR2 TLR4 TLR9 TNF TNFAIP3 TP53 TSC1 TSC2 TUT4 TWIST1 UBR5 UGT1A1 WIF1 WNT1 WNT2 WNT7B WNT9A XIAP XPO5 ZFHX3	10111 1012 1022 1027 10286 10327 10664 10728 10765 1081 10863 11143 1116 11197 11200 1191 1234 1235 1312 133 1435 1436 1457 1493 1508 1509 1543 1544 1545 1557 1576 1586 1588 1604 1636 1727 183 185 1956 1958 196051 2022 2056 2057 2064 207 2099 2153 2155 2159 2177 2181 2237 2253 2261 2263 22938 23028 23054 23081 2321 23318 23522 239 26013 268 2690 2876 2885 2956 3077 3082 310 3117 3123 3161 3169 324 328 329 331 3383 345 3458 348 3480 3481 3486 3489 354 355 3551 3569 3598 3643 3672 3725 374 3791 3845 387 388 389 3952 3973 4012 4049 4137 4193 4214 4233 4255 4288 4312 4314 4317 4361 4436 4582 4609 4615 463 4683 472 4790 4830 4846 4968 5054 5058 50848 51366 5154 5159 51780 5228 5245 5290 5328 5335 54106 5444 545 54567 54658 54790 55209 5562 55904 5604 5605 5606 56254 572 5728 5742 57510 5783 580 581 5879 5966 5971 6041 629 64127 6430 6470 6495 6502 652 654 655 6597 6623 6648 6657 6692 672 675 6772 6774 6783 7037 7040 7067 7076 7078 7083 7097 7099 7124 7128 7157 7248 7249 7291 7403 7471 7472 7477 7483 780 7832 8085 8202 8289 83540 840 84148 84168 842 84634 8493 8621 864 8667 875 8850 8880 9370 9564 9612 9622 9757 9821 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111062	familial hypobetalipoproteinemia 1 Aliases: FHBL1	Apob	54225	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9256	colorectal cancer	cxcr4 galnt12 notch1 rnf43	100037842 100038176 100485011 100491274	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources

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