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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 **9451 - 9475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:2508	Takayasu's arteritis Aliases: Aortic arch arteritis Idiopathic aortitis Takayasu arteritis Takayasu's disease aortic arch syndrome	AGER HLA-A HLA-B HLA-DRB1 IL2 MMP3 MMP9	177 3105 3106 3123 3558 4314 4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050852	limb ischemia	CS CSF3 DLL4 EPO FGFR1 HGF HIF1A ITGAM NOS3 PTGIS VEGFA	1431 1440 2056 2260 3082 3091 3684 4846 54567 5740 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110348	osteogenesis imperfecta type 12 Aliases: OI12 osteogenesis imperfecta type XII	SP7	121340	Homo sapiens (human)	Alliance of Genome Resources
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:0050211	swine influenza	PIK3CG	5294	Homo sapiens (human)	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: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:0111739	X-linked deafness 1 Aliases: DFN2 DFNX1 X-linked sensorineural congenital deafness 2	PRPS1	5631	Homo sapiens (human)	Alliance of Genome Resources
DOID:1580	diffuse scleroderma Aliases: diffuse systemic sclerosis systemic sclerosis, diffuse	ADIPOQ AGT FCGR2A HLA-DQA1 IL10 IL13 IL6 IRAK1 KDR STAT4 TAP1 TLR2	183 2212 3117 3569 3586 3596 3654 3791 6775 6890 7097 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080893	Bainbridge-Ropers syndrome Aliases: ASXL3-related disorder	ASXL3	80816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081119	benign familial infantile seizures 6 Aliases: Autosomal dominant nocturnal frontal lobe epilepsy Benign Familial Infantile Seizures, 6 nocturnal frontal lobe epilepsy-4	CHRNA2	1135	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111028	hemochromatosis type 4 Aliases: HFE4 autosomal dominant hereditary hemochromatosis ferroportin disease hemochromatosis due to defect in ferroportin	SLC40A1	30061	Homo sapiens (human)	Alliance of Genome Resources
DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy	MMP9	4318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080132	Sengers syndrome Aliases: mitochondrial DNA depletion syndrome 10 mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)	AGK	55750	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060929	non-syndromic X-linked intellectual developmental disorder 111 Aliases: XLID111	SLITRK2	84631	Homo sapiens (human)	Alliance of Genome Resources
DOID:2914	immune system disease	POU2F1 POU2F2 POU2F3	25833 5451 5452	Homo sapiens (human)	Alliance of Genome Resources
DOID:10486	intestinal atresia	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 FGF10 FGFR2	2255 2263 345651 58 59 60 70 71	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	DNM1 DNM2 MTMR14	1759 1785 64419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111583	carboxypeptidase N deficiency Aliases: anaphylotoxin inactivator deficiency deficiency of carboxypeptidase B	CPN1	1369	Homo sapiens (human)	Alliance of Genome Resources
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	CAT CD40 CD40LG RIPK1	847 8737 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110705	hypotrichosis 8 Aliases: Hypt8 Lah3 hypotrichosis, localized, autosomal recessive 3	LPAR6	10161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111216	autosomal recessive centronuclear myopathy Aliases: AR-CNM	GFER	2671	Homo sapiens (human)	Alliance of Genome Resources
DOID:2366	West Nile fever	CCR5 KIR3DS1 RFC1	1234 3813 5981	Homo sapiens (human)	Alliance of Genome Resources
DOID:3042	allergic contact dermatitis	CCR1 CCR5 FLT1 IL18BP KDR MMP3 MMP9 TLR4 VEGFA	10068 1230 1234 2321 3791 4314 4318 7099 7422	Homo sapiens (human)	Alliance of Genome Resources

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