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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 **14851 - 14875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:1993	rectum cancer Aliases: carcinoma of rectum carcinoma of the rectum malignant Rectal tumor malignant neoplasm of rectum malignant rectum tumor malignant tumor of rectum rectal cancer	Chd4 Cxcr4 Mapk14	107932 12767 26416	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3910	lung adenocarcinoma Aliases: bronchogenic lung adenocarcinoma nonsmall cell adenocarcinoma	Abce1 Adam28 Akr1a1 Apoc3 Atrx Azgp1 Btk Cadm1 Calr Cd44 Cdh1 Chd4 Chrna3 Chrna5 Chrnb4 Clptm1l Csf1r Cxcr4 Dll4 Eef2 Egf Egfr Erbb2 Erbb3 Erbb4 Ergic3 Ezh2 Fas Fes Fgf9 Fgfr4 Foxp1 Hsp90b1 Idh1 Idh2 Igf2r Il1r2 Iqsec1 Kras Lrp1b Map2k1 Map4k4 Mki67 Muc1 Muc4 Myc Notch1 Pik3r1 Plod2 Ptch1 Ptpn13 Ptprb Ptprj Rbm10 Rnf43 Sdc1 Serpina3a Serpina3b Serpina3c Serpina3f Serpina3j Serpina3k Serpina3m Serpina3n Setd2 Slc3a2 Slc7a5 Src Timp3	107932 108015 108655 110834 110835 11814 12007 12229 12317 12505 12550 12767 12978 13522 13629 13645 13649 13866 13867 13869 140474 14056 14102 14159 14180 14186 15926 16004 16178 16625 16653 17254 17345 17829 17869 18128 18708 19206 19249 19263 19271 20539 20714 20716 20717 207742 20779 20969 218335 21859 22027 22589 232227 235626 236732 238393 238395 24015 26395 26432 26921 269951 271047 54485 54725 58810 66366 74069 94217	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:576	proteinuria	Ace Ager Agtr1a Cd55 Cd55b Cfh Cfhr4 Clu F7 Havcr1 Icam1 Ifnb1 Il1rn Lamb2 Lepr Mgat5 Mmp2 Myh9 Nckap5 Nphs1 Pla2g7 Pon1 Sdc1 Serpina1a Serpina1b Serpina1c Serpina1d Serpina1e Slc9a1 Sorcs1 Tgfb1 Tlr9 Tmem67 Trpc6 Vegfa Vtn Zeb2	107895 11421 11596 11607 12628 12759 13136 13137 14068 15894 15977 16181 16779 16847 171283 17390 17886 18979 20544 20700 20701 20702 20703 20704 20969 210356 214403 21803 22068 22339 22370 24136 27226 329795 54631 58178 81897	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060037	developmental disorder of mental health	ASH1L DLG1 GABRB1 GABRB2 GABRB3 GABRD GABRP GABRQ GABRR1 GABRR2 GABRR3 GIGYF2 GRIN2A GRIN2B GRIN2C GRIN2D NAA15 NAA16 NCKAP1 NCOR1 NCOR2 PARD3 PLXNB1 PLXNB2 PLXNB3 PLXND1 RASAL2 RASAL3 RING1 RNF2 RUNX3 SIN3A SIN3B SRCAP SYNGAP1 TACR1 TCF12 TCF3 TCF4	10787 10847 1739 200959 23129 23309 23654 2560 2561 2562 2563 2568 2569 2570 25942 26058 2903 2904 2905 2906 5364 5365 55870 55879 56288 6015 6045 64926 6869 6925 6929 6938 79612 80155 864 8831 9462 9611 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090142	cystathioninuria Aliases: cystathionase deficiency cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency	Cth	107869	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:83	cataract	Adam10 Akr1b1 Aldh18a1 Bcor Casp9 Ccl11 Crim1 Cryaa Cryab Cth Dnase2b Fas G6pd2 G6pdx Galk1 Gclc Gcnt2 Gpx1 Gsr Ints1 Lim2 Map2k1 Nfe2l2 Nr3c1 Ogg1 Pik3c2a Pon1 Sipa1l3 Slc2a3 Slc45a2 Slc9a1 Sod1 Sord Wfs1	107869 11487 11677 12371 12954 12955 14102 14380 14381 14538 14629 14635 14775 14782 14815 18024 18294 18704 18979 20292 20322 20527 20544 20655 22293 22393 233187 26395 50766 56454 56629 68510 71458 74206	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9252	amino acid metabolic disorder Aliases: inborn errors of amino acid metabolism	Aldh18a1 Asl Bcat2 Cth Glul Gpt Hibadh Hmgcl Pccb Shmt1 Shmt2 Tars1	107869 108037 109900 110960 12036 14645 15356 20425 56454 58875 66904 76282	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13189	gout Aliases: Articular gout Gouty arthropathy gouty arthritis	ABCG2 ADRB3 HP LPA PRPS1 SLC17A3	10786 155 3240 4018 5631 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:4074	pancreatic adenocarcinoma Aliases: pancreas adenocarcinoma	Adgrb1 Akt3 Cxcr4 Hrg Map2k1 Nfkb1 Plat Vegfc	107831 12767 18033 18791 22341 23797 26395 94175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3068	glioblastoma Aliases: GBM adult glioblastoma multiforme glioblastoma multiforme grade IV adult Astrocytic tumor primary glioblastoma multiforme spongioblastoma multiforme	Adgrb1 Adgrl4 Akt3 Atrx Bag3 Chi3l1 Cpe Ctsb Ctsh Dmbt1 Egf Enpp1 Ezh2 Flt3l Idh1 Il16 Kcnc2 Kdr Kras L1cam Map2k3 Mmp2 Mmp9 Pdgfb Pdgfrb Pdpn Pgf Pik3cb Ptgs1 Ptgs2 Ptprb Rpl35a Serping1 Slc7a5 Stat3 Stat5a Tnc Trp53	107831 12258 12654 12876 12945 13030 13036 13645 14056 14256 14726 15926 16170 16542 16653 16728 170757 17390 17395 18591 18596 18605 18654 19224 19225 19263 20539 20848 20850 21923 22059 22589 23797 26397 268345 29810 57808 74769	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	Abcb1a Abcb1b Adam28 Adgrb1 Ager Akt1 Areg Cd44 Clu Crkl Dlg1 Ezh2 Il13 Inha Jup Kit Map2k4 Met Mmp13 Nefl Ntrk3 Pcna Prkci Vegfc Wif1	107831 11596 11651 11839 12505 12759 12929 13383 13522 14056 16163 16322 16480 16590 17295 17386 18039 18213 18538 18669 18671 18759 22341 24117 26398	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4450	renal cell carcinoma Aliases: RCC adenocarcinoma of kidney hypernephroma	Abcb1a Abcb1b Abcg2 Adgrb1 Afp Agtr1a Agtr1b Agtr2 Akt1 Akt3 Angpt1 Arnt Bad Bmp4 Bmp6 Bmp7 Bsg C4b Cad Car9 Ccnb1 Cd44 Cd46 Cdh1 Comt Csf1r Ctla4 Ctnnb1 Cyp1a1 Dll4 Egfr Egln1 Egln2 Erbb2 Erbb4 Fas Fgfr1 Flt1 Fn1 Frs2 Fto Gsr H2-Eb1 Havcr1 Havcr2 Igf1r Igfbp3 Igfbp7 Il1rn Il2 Il4ra Insr Jun Jup Kcnh1 Kdm6a Kdm6b Kit Kras Lep Lnpep Ltf Map2k1 Met Mlh1 Mmp1a Mmp2 Mmp9 Mtor Muc1 Myc Nr3c1 Nrp1 Ogg1 Pak1 Pcna Pdcd1 Pdgfra Pdgfrb Pdpn Pfas Pgf Pik3r1 Pmepa1 Ppat Ptgs1 Ptgs2 Rassf1 Rela Sfrp1 Slc49a4 Smad2 Smad4 Smarcc1 Sparc St14 Stat3 Tfe3 Tfrc Tgfb1 Timd2 Timp1 Timp3 Tlr9 Tnf Tnfrsf10b Tnfrsf1a Tnfrsf1b Trp53 Tymp Vegfa Vegfc Vwf Wif1 Wnt11	107831 112405 112406 11576 11600 11607 11608 11609 11651 11863 12015 12159 12161 12162 12215 12268 12387 12477 12505 12550 12846 12978 13076 13649 13866 13869 14102 14182 14254 14268 14726 14782 14815 14969 16001 16009 16181 16183 16190 16337 16476 16480 16510 16590 16653 16846 17002 17126 17128 171283 171284 171285 17221 17295 17350 17390 17395 17829 17869 18186 18294 18479 18538 18566 18595 18596 18654 18669 18671 18708 19143 19224 19225 19697 20377 20588 20692 20848 209446 216850 21803 21857 21859 21926 21933 21937 21938 22042 22059 22289 22339 22341 22371 22411 224132 230099 231327 237823 23797 240028 24117 26357 26383 26395 268697 29817 327826 54485 56289 56717 65112 69719 72962 81897 83995	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3069	malignant astrocytoma Aliases: Astrocytic tumor astrocytoma of Cerebrum astrocytoma of brain astroglioma cerebral astrocytoma	Adgrb1 Akt1 Akt2 Akt3 Atrx Braf Bst2 Cadm2 Camk2g Il16 Kras Map2k3 Nf1 Slc7a5	107831 109880 11651 11652 12325 16170 16653 18015 20539 22589 23797 239857 26397 69550	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060041	autism spectrum disorder	Abca17 Abca3 Arhgap32 Arhgef10 Avpr1b Baiap2 Bckdk Bdnf Brinp1 Cadm2 Cadps2 Camk2a Cfl1 Chd6 Chd8 Chd9 Chrnb2 Cntnap1 Cntnap2 Cntnap4 Cntnap5a Cntnap5b Cntnap5c Comt Csde1 Ctnnb1 Ctnnd1 Ctnnd2 Cul3 Dlg4 Dlgap4 Dscam Dscaml1 Dstn Eif4b Ext1 Fxr1 Gabrb3 Gad1 Gprasp2 Grin1 Htr2a Htr2b Htr2c Ihh Itga4 Itpr3 Lamc1 Lamc3 Lrba Lrfn2 Mef2c Mef2d Met Mmp9 Nbea Ndst1 Ndst2 Ndst3 Ndst4 Nlgn1 Nlgn2 Nlgn3 Nrcam Nrp2 Nrxn1 Nrxn3 Nsf Oprl1 Oprm1 Pak2 Pdgfrb Pianp Pkp1 Pkp4 Pogz Rims1 Rims2 Scamp1 Scamp5 Scn1a Scn2a Shank1 Shank2 Shank3 Shh Slc6a2 Slc6a3 Slc6a4 Slc7a5 Slc9a9 Srsf11 Ssbp2 Ssbp3 Syn1 Syn2 Syngap1 Tbr1 Tcf20 Trpc5 Tsc1 Wdfy3	107767 108100 109151 110876 11444 114873 116837 116838 12041 12064 12322 12387 12388 12631 12846 13162 13385 13508 14042 14359 14402 14415 14810 15531 15558 15559 15560 15567 16147 16401 16440 170571 17260 17261 17295 17395 17423 18163 18187 18189 18191 18195 18389 18390 18596 18772 192167 20265 20423 20538 20539 20964 20965 210274 21375 21411 216856 22067 224105 226519 227937 228836 229584 229663 234094 23928 239857 240057 241175 243961 245537 245607 26361 26422 26554 27410 319352 319504 320405 330914 331004 381072 53321 56431 56710 56807 58234 620292 636808 64580 64930 66797 66970 67772 69207 70530 71389 72145 72475 75705 80877 83398	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2477	motor peripheral neuropathy Aliases: HSMN HSMN - Hereditary sensory and motor neuropathy Hereditary motor and sensory neuropathy Peripheral Motor Neuropathy neuropathic muscular atrophy	Slc12a6	107723	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy Aliases: Andermann syndrome Charlevoix disease corpus callosum agenesis-neuronopathy syndrome	Slc12a6	107723	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1826	epilepsy Aliases: epilepsy syndrome epileptic syndrome	Abcb1a Abcb1b Ache Aldh5a1 Aldh7a1 Ank2 Ank3 Atp1a1 Atp1a2 Atp1a3 Atp1b1 Atp1b2 Atp1b3 Atp4a Atp4b Atp6v1b2 Azgp1 Bche Bdkrb1 Bdkrb2 Bmp4 Bsn C1qa Cacna1a Cacna1b Cacna2d2 Camk2d Chl1 Cp Depdc5 Dhx9 Dync1h1 Eef1a1 Eef1a2 Erbb4 Fos Gabrb3 Gabrg2 Gad1 Gapdh Gdnf Gria1 Grin1 Grin2a Grin2b Grin2c Grin2d Grm8 Itga3 Itga6 Itga7 Kalrn Kcna1 Kcna2 Kcna3 Kcna4 Kcna5 Kcna7 Kcnb1 Kcnh1 Kcnh2 Kcnh5 Kcnh7 Kcnk16 Kcnk18 Kcnt1 Kif4 L1cam Lgi1 Lrp1 Lrp1b Map4k4 Mapt Mink1 Mmp9 Nfasc Nos3 Nrcam Nsf Nus1 Penk Pgf Ppia Prickle2 Rab3a Rela Sbf1 Scamp5 Scn10a Scn11a Scn1a Scn2a Scn3a Scn4a Scn5a Scn7a Scn8a Slc12a1 Slc12a2 Slc12a3 Slc12a4 Slc12a5 Slc12a6 Slc12a7 Slc13a5 Slc1a1 Slc1a3 Slc1a4 Slc1a6 Slc1a7 Slc24a3 Slc24a4 Slc25a4 Slc25a5 Slc6a1 Stx1b Stxbp1 Sv2a Syn2 Th Tmtc3 Tnf Tnik Trio Unc13a	107723 108058 109676 110695 110876 110880 11423 11735 11739 11740 11928 11931 11932 11933 11944 11945 11966 12007 12038 12061 12062 12159 12217 12259 12286 12287 12661 12870 13211 13424 13627 13628 13869 14281 14402 14406 14415 14433 14573 14799 14810 14811 14812 14813 14814 14823 16400 16403 16404 16485 16490 16491 16492 16493 16495 16500 16510 16511 16571 16728 16971 170738 17395 17762 18127 18195 18619 18654 18669 18671 19339 19697 20264 20265 20269 20271 20272 20273 20495 20496 20497 20498 20499 20510 20512 20513 20910 20965 214579 21823 21926 223435 227632 232333 232975 237500 237831 238271 238384 24046 242607 243548 268373 269116 26921 277854 319504 332396 382018 50932 52014 545156 55963 56216 56807 56808 56839 57138 64051 665113 74571 77980 94217 94249 98660	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12241	beta thalassemia	APOB APOE BCL11A CFB COL1A1 HBB HBS1L HFE HLA-DQB1 HP IGFBP3 IL1A IL6 PON1 TERT TNF	10767 1277 3043 3077 3119 3240 338 348 3486 3552 3569 53335 5444 629 7015 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type Aliases: MRXSCJ MRXSJ mental retardation, X-linked, syndromic, Claes-Jensen type syndromic X-linked intellectual disability due to JARID1C mutation syndromic X-linked mental retardation JARID1C-related	KDM5B	10765	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081226	autosomal recessive intellectual developmental disorder 65	KDM5B	10765	Homo sapiens (human)	Alliance of Genome Resources
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	BAP1 BRCA2 GRM1 HLA-B KDM5B KDR MBD4 MCAM SERPINE1 VEGFA	10765 2911 3106 3791 4162 5054 675 7422 8314 8930	Homo sapiens (human)	Alliance of Genome Resources
DOID:3748	esophagus squamous cell carcinoma Aliases: SCC of esophagus SCC of oesophagus oesophagus squamous cell carcinoma	AKT1 ATM AZGP1 BMI1 BMP6 BRCA1 BRCA2 BST2 CA12 CALR CBX8 CHRNA5 CHRNA7 CHRNB4 CLPTM1L COL14A1 CXCR4 CYP1A1 CYP1B1 CYP24A1 DCC DPP4 EFNB2 EGFR EHMT1 EHMT2 EPB41L3 EPHB4 ERBB4 EZH2 FAP FAT1 FGFR4 FOXA1 FUBP1 GPX3 GRB7 IDH2 JUNB KAT2B KDM4C KDM5B KDM6A KMT2C KMT2D KRT7 LZTS1 MAP3K1 MBD4 MGMT MLH1 MMP14 MMP2 MMP9 MSH2 PAGR1 PTCH1 PTPRT RICTOR RUNX1 RUNX2 RUNX3 SETD5 SLC1A5 SLC7A5 SPEN TAP1 TERT TET2 TET3 TGFBR2 TNFAIP3 TP53 XPO1 XRCC1	10765 10919 11122 11178 1138 1139 1143 1543 1545 1591 1630 1803 1948 1956 200424 2050 2066 207 2146 2191 2195 2264 23013 23081 23136 253260 2878 2886 3169 3418 3726 3855 4214 4255 4292 4313 4318 4323 4436 472 54790 55209 563 5727 57332 58508 648 6510 654 672 675 684 6890 7015 7048 7128 7157 7373 7403 7514 7515 771 7852 79447 79813 8085 81037 811 8140 860 861 864 8850 8880 8930	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111287	psoriasis 13 Aliases: PSORS13	TRAF3IP2	10758	Homo sapiens (human)	Alliance of Genome Resources
DOID:2058	chronic mucocutaneous candidiasis	CLEC7A IL17F IL17RC TRAF3IP2	10758 112744 64581 84818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060246	MASA syndrome Aliases: CRASH syndrome Gareis-Mason syndrome L1 syndrome SPG1 X-linked complicated hereditary spastic paraplegia type 1 X-linked corpus callosum agenesis X-linked spastic paraplegia 1 hereditary spastic paraplegia 1	CHL1 L1CAM NFASC NRCAM TRPM1 TRPM3	10752 23114 3897 4308 4897 80036	Homo sapiens (human)	Alliance of Genome Resources

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