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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **76 - 100** of **4115** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0050908	myelodysplastic syndrome	ARPC1B ASXL1 CDKN1B CSF3R EZH2 FCGR3A GATA2 GNB1 HFE IDH1 MEFV NRAS PLCB1 SF3B1 SRSF2 TET2 TP53 XRCC1 ZRSR2	10095 1027 1441 171023 2146 2214 23236 23451 2624 2782 3077 3417 4210 4893 54790 6427 7157 7515 8233	Homo sapiens (human)	Alliance of Genome Resources
DOID:4029	gastritis Aliases: Erosive Gastritis Erosive gastropathy acute gastric mucosal erosion	ARPC1B NOD2	10095 64127	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112004	immunodeficiency 71 Aliases: IMD71 PLTEID immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	ARPC1B	10095	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110056	amelogenesis imperfecta type 1C Aliases: AI1C amelogenesis imperfecta type IC autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive amelogenesis imperfecta local hypoplastic type	ENAM	10117	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110052	amelogenesis imperfecta type 1B Aliases: AI1B AIH2 amelogenesis imperfecta type IB autosomal dominant hypoplastic local amelogenesis imperfecta hereditary localized enamel hypoplasia	ENAM	10117	Homo sapiens (human)	Alliance of Genome Resources
DOID:2394	ovarian cancer Aliases: malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary	AKT1 APEX1 APOB BARD1 BRCA1 BRCA2 CD59 CDH13 CDH1 COMT CTNNB1 CYP19A1 EEF1A2 ERBB2 HFE HMGA2 ITGA8 JAK1 JUP LEF1 MBL2 MMP1 MSLN MUC16 MYO6 NBN NOD2 NOS3 OGG1 OPCML PIK3CA PRKCA PTEN RUNX3 SMAD4 SOD2 STAT3 TFRC UGT1A1	1012 10232 1312 1499 1588 1917 2064 207 3077 328 338 3716 3728 4089 4153 4312 4646 4683 4846 4968 4978 51176 5290 54658 5578 5728 580 64127 6648 672 675 6774 7037 8091 8516 864 94025 966 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:4362	cervical cancer Aliases: cervical neoplasm cervix cancer cervix uteri cancer neoplasm of uterine cervix tumor of the Cervix Uteri uterine cervical neoplasm	APEX1 BRCA1 CDC25A CDH13 HLA-B HLA-DPB1 HLA-DQB1 KDM3A KMT2A KMT2E MAP2K3 MAP2K6 MMP1 SF3B4 TAP1 TNF TNFRSF10A XRCC1	1012 10262 3106 3115 3119 328 4297 4312 55818 55904 5606 5608 672 6890 7124 7515 8797 993	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 AKT1 APEX1 APOE AREG ARID1A ATM BARD1 BCAS2 BIRC2 BRCA1 BRCA2 CASP7 CCR5 CDH13 CDH1 CDKN1B CHEK2 CLU COMT CTLA4 CTSD CYB5R3 CYP17A1 CYP19A1 CYP1A1 CYP1A2 CYP1B1 CYP2C19 EIF3H ENG ESR1 F10 F5 FANCD2 FAS FGFR2 FOXA1 GPX1 GRB2 HFE HLA-DQA1 HLA-DRB1 HMMR IFNG IGFBP3 IKBKB IL13RA2 IL6 KAT6B KDM4C KDM5B KRAS LHCGR LSP1 LTA MAP3K1 MGMT MIER3 MKI67 MMP1 MMP3 MMP8 MSH2 MUC1 MYC NBN NCOA6 NFKB1 NOD2 NOS3 OGG1 PAK1 PHB1 PIK3CA PON1 PPM1D PRKAA1 PTEN PTPN13 RB1CC1 RELB RNF20 RUNX3 SHMT1 SNW1 SOD2 SOX2 STAT3 SULT1E1 TGFB1 TLR2 TLR4 TNF TNFAIP3 TP53 TSG101 TWIST1 UBR5 UGT1A1 WIF1 XPO5	1012 1027 10286 10765 10863 11197 11200 1191 1234 1312 133 1493 1509 1543 1544 1545 1557 1586 1588 1636 166968 1727 183 185 2022 207 2099 2153 2159 2177 2181 2263 22938 23054 23081 23522 2876 2885 3077 3117 3123 3161 3169 328 329 3458 348 3486 355 3551 3569 3598 374 3845 3973 4046 4049 4214 4255 4288 4312 4314 4317 4436 4582 4609 4683 472 4790 4846 4968 5058 51366 5245 5290 5444 54658 5562 56254 5728 57510 5783 580 5971 64127 6470 6648 6657 672 675 6774 6783 7040 7097 7099 7124 7128 7157 7251 7291 8289 840 8493 864 8667 9370 9821 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:3908	lung non-small cell carcinoma Aliases: NSCLC Non-small cell lung cancer non-small cell lung carcinoma	ABCB1 ABCC2 ACVR1B ADAM28 ARID1A ARID1B ATM BAD BAG6 BRCA1 CA12 CA9 CASP7 CASP9 CBL CDH13 CHRNA3 CHRNA5 CHRNA7 CHRNB4 CLPTM1L CMPK1 CSF1R CYP24A1 DDR1 DNMT1 E2F1 EGF EGFR EPAS1 ERBB3 ERCC5 ERCC6 ESR1 FAT1 FGFR1 FGFR4 FH FOXL2 FRZB GPX1 HDAC3 HIF1A HS3ST2 IDH2 IL1A IL1RN IL7R JAK1 KDM2A KDM6A KDR KMT2C KMT2D LRP1B LTF MAP2K4 MAP3K1 MSH2 MYD88 NCOA2 NFKB1 NRP1 NSD2 PBRM1 PLAU PLCG1 POLE PTEN PTGS2 PTPRB RARB RELA RUNX2 RUNX3 SDHA SDHC SFTPB SFTPD SLC3A2 SMARCA4 SPP1 TERT TET2 TNF TNFRSF1A TYMP UGT1A1 XPO1 XPO5 XRCC1 ZFHX3	1012 10499 10863 1136 1138 1139 1143 1244 1436 1591 1786 1869 1890 1950 1956 2034 2065 2073 2074 2099 2195 2260 2264 2271 22992 2487 2876 3091 3418 3552 3557 3575 3716 3791 4057 4214 4436 4615 463 472 4790 51727 5243 5328 5335 53353 5426 54658 54790 55193 572 5728 5743 57492 57510 5787 58508 5915 5970 6389 6391 6416 6439 6441 6520 6597 668 6696 672 7015 7124 7132 7403 7468 7514 7515 768 771 780 7917 8085 81037 8289 840 842 860 864 867 8829 8841 91 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:3459	breast carcinoma Aliases: Mammary carcinoma carcinoma of breast	BIN1 CADM1 CDH13 DCN DDR1 EGFR ESR1 HLA-DRB1 LZTS1 MRE11 RHOA STAT1 TFRC THOC5 TIMP3 TSG101 TWIST1 VEGFC WNT2	1012 11178 1634 1956 2099 23705 274 3123 387 4361 6772 7037 7078 7251 7291 7424 7472 780 8563	Homo sapiens (human)	Alliance of Genome Resources
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	APC CDH13 HRAS POLE RUNX3 SMAD4 SPARC	1012 324 3265 4089 5426 6678 864	Homo sapiens (human)	Alliance of Genome Resources
DOID:3652	Leigh disease Aliases: Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy	LRPPRC ND3 ND5 NDUFS2 SDHA SURF1	10128 4537 4540 4720 6389 6834	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	LRPPRC	10128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070033	autosomal dominant intellectual developmental disorder 3 Aliases: MRD3 autosomal dominant mental retardation 3 autosomal dominant non-syndromic intellectual disability 3	CDH15	1013	Homo sapiens (human)	Alliance of Genome Resources
DOID:332	amyotrophic lateral sclerosis Aliases: ALS Lou Gehrig's disease motor neuron disease, bulbar	APOE CHMP2B DPP6 FUS GOT1 GRN GSK3A GSK3B HMGB1 ITPR2 NEFH NEFL NRG1 OPTN PON2 PON3 PPARGC1A SLC11A2 SOD1 TARDBP TFAM UBQLN2 UNC13A VAPB	10133 10891 1804 23025 23435 2521 25978 2805 2896 2931 2932 29978 3084 3146 348 3709 4744 4747 4891 5445 5446 6647 7019 9217	Homo sapiens (human)	Alliance of Genome Resources
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	ACVR1 ADIPOQ ADRB2 APOE COL6A3 CYP1B1 LAMB2 LOXL1 MMP1 MYOC NOS3 OGG1 OPTN PON1 SOD2 THBS1 TLR4 TNF TP53 WDR36	10133 1293 134430 154 1545 348 3913 4016 4312 4653 4846 4968 5444 6648 7057 7099 7124 7157 90 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:1686	glaucoma	AGO2 BDNF EEF2 EPO FOXC1 HLA-DQB1 HLA-DRB1 LINGO1 OPTN WDR36	10133 134430 1938 2056 2296 27161 3119 3123 627 84894	Homo sapiens (human)	Alliance of Genome Resources
DOID:13544	low tension glaucoma Aliases: Normal tension glaucoma	ADRB1 APOE MYOC OPTN TLR4 TNF TP53	10133 153 348 4653 7099 7124 7157	Homo sapiens (human)	Alliance of Genome Resources
DOID:1067	open-angle glaucoma Aliases: Wide-angle glaucoma glaucoma simplex open angle glaucoma pigmentary glaucoma	ADRB2 APOE GMDS MYOC OPTN PON1 TAP1 TNF	10133 154 2762 348 4653 5444 6890 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:5408	Paget's disease of bone Aliases: Paget disease of bone Paget's bone disease osseous Paget's disease osteitis deformans	OPTN SQSTM1 TNFRSF11A TNFRSF11B VCP	10133 4982 7415 8792 8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060203	amyotrophic lateral sclerosis type 12 Aliases: ALS12 amyotrophic lateral sclerosis 12	OPTN	10133	Homo sapiens (human)	Alliance of Genome Resources
DOID:224	transient cerebral ischemia Aliases: TIA TIA - Transient ischaemic attack Transient cerebral ischaemia Transient ischemic attacks transient ischemic attack	CSF3 EPO F12 GOT1 IL1RN NAMPT NRG1 SERPINF1 SOD1 TFPI	10135 1440 2056 2161 2805 3084 3557 5176 6647 7035	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080281	schizophrenia 19	RBM12	10137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110652	long QT syndrome 11 Aliases: LQT11	AKAP9	10142	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111863	X-linked congenital bilateral absence of vas deferens Aliases: CBAVDX	ADGRG2	10149	Homo sapiens (human)	Alliance of Genome Resources

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