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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 **14351 - 14375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:10914	amnestic disorder Aliases: Amnestic syndrome Korsakoff's psychosis or syndrome amnesia	BCHE BDNF CREB1 DRD3 HRH3 HTR7 IRS1 IRS2 IRS4 MAPT	11255 1385 1814 3363 3667 4137 590 627 8471 8660	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050589	inflammatory bowel disease	ADAM17 ADIPOQ AGER AGT ALPI ANKZF1 ANO6 B2M CD40LG EGFR EPB41 EPB41L1 EPB41L2 EPB41L3 FGF23 HSPA5 ICAM1 IGF2 IGFBP3 IL10 IL16 IL1RN IL21R IL2 IL2RA KLKB1 LTF MST1 MUC2 NOS2 NPSR1 PDGFB PDZD2 PIK3C3 RAB11A RAB11B RUNX3 SLC11A1 SLC6A14 ST6GALNAC1 STAT3 TGFB1 THEMIS TNF VEGFA	11254 177 183 1956 196527 2035 2036 2037 23037 23136 248 3309 3383 3481 3486 3557 3558 3559 3586 3603 3818 387129 387357 4057 4485 4583 4843 50615 5155 5289 55139 55808 567 6556 6774 6868 7040 7124 7422 8074 864 8766 9230 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:11723	Duchenne muscular dystrophy Aliases: Muscular dystrophy, Duchenne	CACNA1C CACNA1D CACNA1F CACNA1S CAPN1 CAPN3 CTNNAL1 CTSS DAG1 DMD DRP2 DTNA EML3 EML4 ITGA7 KCNMA1 KCNU1 NOS1 PLA2G6 SLC6A14 SLC6A5 SNTB2 SNTG2 UTRN	11254 1520 157855 1605 1756 1821 1837 256364 27436 3679 3778 4842 54221 6645 7402 775 776 778 779 823 825 8398 8727 9152	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	MAN1B1	11253	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080338	familial erythrocytosis 3 Aliases: ECYT3	Egln1	112405	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8432	polycythemia Aliases: Erythrocythemia	Ace Egln1 Epor	112405 11421 13857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3021	acute kidney failure	Ace Adrb2 Ager Ambp Avpr1a Azgp1 Bad Bax Clu Ece1 Egf Egfr Egln1 Epo Fas Fga Fn1 Gpt Gpx4 Gsr Havcr1 Hbegf Hp Hspa8 Icam1 Igf1r Il1rn Lcn2 Met Mpo Mtor Ndufb8 Nfe2l2 Nos3 Pkd2 Plat Pparg Proc Procr Ptafr Ptger4 Ptgs2 Ren1 Serpinc1 Slc22a1 Slc22a2 Tgfa Thbd Timd2 Tlr4 Tnfrsf1a Tnfrsf1b Uts2r Wnt4	112405 11421 11555 11596 11699 11905 12007 12015 12028 12759 13645 13649 13856 14102 14161 14268 14782 15200 15439 15481 15894 16001 16181 16819 171283 171284 17295 17523 18024 18127 18764 18791 19016 19123 19124 19204 19219 19225 19701 20517 20518 217369 21802 21824 21898 21937 21938 22417 230857 54140 56717 625249 67264 76282	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050770	polycystic liver disease Aliases: congenital cystic liver disease congenital hepatic cyst fibrocystic liver disease	GANAB PKD1 PRKCSH SEC63 UCP2	11231 23193 5310 5589 7351	Homo sapiens (human)	Alliance of Genome Resources
DOID:5052	melioidosis Aliases: Nightcliff gardener's disease Pseudoglanders Whitmore's disease acute and fulminating melioidosis subacute and chronic melioidosis	IRAK3 PLAUR SERPINF1 TLR5 TREM1	11213 5176 5329 54210 7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:11476	osteoporosis	ACE AGER AR BAX BMP2 CALCA CALCR CIITA COL1A1 COL1A2 CXCR4 CYP17A1 CYP19A1 DSPP ESR1 GH2 GHR GOLM1 IFNGR1 IGF1R IGF2 IGFBP3 IL1A IL1RN IRAK3 IRS1 IRS2 LEP LEPR LRP5 MAPK14 MMP9 MYC NRIP1 PCNA PLS3 PTGER4 SIRT1 SOD2 TGFB1 TNFRSF11A TNFRSF11B TNFRSF1B TNFSF11	11213 1277 1278 1432 1586 1588 1636 177 1834 2099 23411 2689 2690 3459 3480 3481 3486 3552 3557 3667 367 3952 3953 4041 4261 4318 4609 4982 5111 51280 5358 5734 581 650 6648 7040 7133 7852 796 799 8204 8600 8660 8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:9821	choroideremia Aliases: progressive Choroidal Atrophy	CHM CHML	1121 1122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111504	Li-Fraumeni syndrome 2 Aliases: LFS2	CHEK2	11200	Homo sapiens (human)	Alliance of Genome Resources
DOID:1614	male breast cancer Aliases: malignant neoplasm of male breast neoplasm of male breast	CHEK2	11200	Homo sapiens (human)	Alliance of Genome Resources
DOID:3347	osteosarcoma Aliases: Osteogenic sarcoma Skeletal sarcoma bone tissue neoplasm osteoid sarcoma	AKAP12 BRCA2 CBL CDC5L CHEK2 CXCR4 DDR1 E2F1 EFEMP2 EGR1 EZH2 HSD17B10 IL3 MSH2 MSH6 PTPRB RB1 SERPINF1 TP53	11200 1869 1958 2146 2956 30008 3028 3562 4436 5176 5787 5925 675 7157 780 7852 867 9590 988	Homo sapiens (human)	Alliance of Genome Resources
DOID:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	AFP CHEK2 FGF8 INHA POU5F1 RB1	11200 174 2253 3623 5460 5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110632	megaconial type congenital muscular dystrophy Aliases: congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy	CHKB	1120	Homo sapiens (human)	Alliance of Genome Resources
DOID:8619	recurrent hypersomnia Aliases: primary recurrent hypersomnia	CHKB	1120	Homo sapiens (human)	Alliance of Genome Resources
DOID:8986	narcolepsy Aliases: Narcolepsy, without cataplexy paroxysmal sleep	CD40LG CHKB HCRTR2 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 MOG	1120 3062 3115 3117 3119 3123 4340 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060558	lethal congenital contracture syndrome	ADCY6 ADGRG6 CNTNAP1 DNM2 GLDN NEK9	112 1785 342035 57211 8506 91754	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070469	neurodevelopmental disorder with dysmorphic facies and thin corpus callosum Aliases: NEDDFAC	SUPT16H	11198	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110806	hereditary spastic paraplegia 54 Aliases: SPG54 autosomal recessive spastic paraplegia 54 autosomal recessive spastic paraplegia type 54	DDHD1 SEC23IP	11196 80821	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110779	hereditary spastic paraplegia 28 Aliases: SPG28 autosomal recessive spastic paraplegia 28 autosomal recessive spastic paraplegia type 28	DDHD1 SEC23IP	11196 80821	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050912	colon adenoma	CHKA RAC1 RBP4 TET2	1119 54790 5879 5950	Homo sapiens (human)	Alliance of Genome Resources
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	AKT1 CTNNA1 CYP1A1 CYP24A1 GPX3 IL10 IL1R2 IL5 LZTS1 MXI1 MYD88 PIK3CA PTEN TNFAIP3 XRCC1	11178 1495 1543 1591 207 2878 3567 3586 4601 4615 5290 5728 7128 7515 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:1749	squamous cell carcinoma Aliases: epidermoid carcinoma malignant squamous cell tumor squamous carcinoma squamous cell Epithelioma squamous cell cancer	ANXA1 CFH CTLA4 EGR1 FGF7 FGFR2 HRAS IL2 ING3 IRAK1 KMT2C LTA4H LZTS1 MMP2 MMP9 NME1 OCA2 PLAU RIPK1 SOX2 STAT3 TLR9 TP53 XRCC5 XRCC6	11178 1493 1958 2252 2263 2547 301 3075 3265 3558 3654 4048 4313 4318 4830 4948 5328 54106 54556 58508 6657 6774 7157 7520 8737	Homo sapiens (human)	Alliance of Genome Resources

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