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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 **15151 - 15175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:10907	microcephaly Aliases: Microcephalus microencephaly	AARS1 AARS2 ASPM AUTS2 CARS1 CDK5RAP2 CHKA CHKB CIT COPB2 DHX37 EFTUD2 ETNK1 ETNK2 EXOC7 KATNB1 KIF20B MAPKBP1 MFSD2A NSD1 ODF2 PSMB1 PUS7 SLC25A19 TUBA1A TUBB WDR62	10300 11113 1119 1120 16 203068 23005 23265 259266 26053 284403 4957 54517 55224 55500 55755 5689 57505 57647 60386 64324 7846 833 84879 9276 9343 9585	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060250	idiopathic scoliosis	ADGRG6 DNAH10 KATNB1 MBTPS1 ODAD3 PRMT5 PTK7 PTPN11 RUNX3 SLC39A8 SLC6A9	10300 10419 115948 196385 57211 5754 5781 64116 6536 864 8720	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060257	dyschromatosis symmetrica hereditaria Aliases: reticulate acropigmentation of Dohi	ADAR	103	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050629	Aicardi-Goutieres syndrome Aliases: AGS Cree encephalitis	ADAR SAMHD1	103 25939	Homo sapiens (human)	Alliance of Genome Resources
DOID:11166	Human papillomavirus infectious disease Aliases: HPV	ADAR CD274 EGFR FGFR3 HLA-DPB1 HLA-DRB1 IL1RL1 TLR3 TLR9	103 1956 2261 29126 3115 3123 54106 7098 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:3744	cervical squamous cell carcinoma Aliases: squamous cell carcinoma of cervix squamous cell carcinoma of the Cervix Uteri	ADAR BAX BIRC2 CCR4 CD82 CSF1R FGF7 FGFR3 FOS PDPN TMBIM6 TNFRSF4 TNFSF4 TP53 TYMP	103 10630 1233 1436 1890 2252 2261 2353 329 3732 581 7009 7157 7292 7293	Homo sapiens (human)	Alliance of Genome Resources
DOID:4467	clear cell renal cell carcinoma Aliases: Clear cell carcinoma of kidney clear cell kidney carcinoma conventional (Clear cell) renal cell carcinoma conventional renal cell carcinoma renal clear cell carcinoma	ACKR3 AGER BAX CXCR4 DDR1 ENG EP300 F2 FTO GATA2 IGF1R KAT8 MMP12 MYC PAK4 PDGFB SETD2 SMARCB1 SRSF4 SRSF5 SRSF6 SRSF7 TP53	10298 177 2022 2033 2147 2624 29072 3480 4321 4609 5155 57007 581 6429 6430 6431 6432 6598 7157 780 7852 79068 84148	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112104	Sotos syndrome 3 Aliases: SOTOS3	APC2	10297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081218	autosomal recessive intellectual developmental disorder 74	APC2	10297	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080409	familial adenomatous polyposis 1	APC2 APC	10297 324	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090131	complex cortical dysplasia with other brain malformations Aliases: CDCBM	APC2 CAMSAP1 FOXP1 HCN1	10297 157922 27086 348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070005	Seckel syndrome 9 Aliases: SCKL9	TRAIP	10293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111222	centronuclear myopathy 5 Aliases: CNM5	SPEG	10290	Homo sapiens (human)	Alliance of Genome Resources
DOID:3827	congenital diaphragmatic hernia Aliases: Diaphragmatic Hernia	Ace Agtr2 Atp7a Bmp4 Cbl Ep300 Frem1 Gata4 Htr2a Igf2 Igfbp3 Lcn2 Lrp1 Myrf Ndst1 Nos3 Nr2f2 Pdgfra Pls3 Sftpb Slc6a4 Slit2 Slit3 Sod1 Sod2 Tnf Vegfa	102866 11421 11609 11819 11977 12159 12402 14463 15531 15558 15567 16002 16009 16819 16971 18127 18595 20388 20563 20564 20655 20656 21926 22339 225908 328572 329872	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12858	Huntington's disease Aliases: HD Huntington disease Huntington's chorea	Ache Agtr1a Agtr1b Atf2 Bax Bche Bdnf Casp9 Cnr2 Ctsh Drd1 Elk1 F2 Fas Fasl Foxp1 Git1 Gja1 Glul Gpx1 Grin2a Grin2b Gsr Gss Hnmt Hsf1 Il6ra Itpr1 Lep Map2 Mbp Mmp9 Mtnr1a Nfe2l2 Ngfr Nog Nos3 Npy2r Pacsin1 Pacsin2 Pls3 Ppargc1a Prkaa1 Ptgs2 Qprt Sin3a Slc1a2 Ucp2 Wipi1 Wipi2	102866 105787 108655 11423 11607 11608 11909 12028 12038 12064 12371 12802 13036 13488 13712 140483 14061 14102 14103 14609 14645 14775 14782 14811 14812 14854 15499 16194 16438 16846 17196 17395 17756 17773 18024 18053 18121 18127 18167 19017 19225 20466 20511 216963 22228 23969 23970 52639 67375 74781	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11476	osteoporosis	Ace Ager Bax Bmp2 Calca Calcr Col1a1 Col1a2 Cxcr4 Dspp Esr1 Esr2 Ghr Golm1 Gsr Ifngr1 Igf1r Igf2 Igfbp3 Il1a Il1rn Irs1 Irs2 Lep Lepr Lrp5 Mapk14 Mmp9 Myc Pcna Pls3 Ptger4 Sod2 Tgfb1 Tnfrsf11a Tnfrsf11b Tnfrsf1b Tnfsf11	102866 105348 11421 11596 12028 12156 12310 12311 12767 12842 12843 13982 13983 14600 14782 15979 16001 16002 16009 16175 16181 16367 16846 16847 16973 17395 17869 18383 18538 19219 20656 21803 21934 21938 21943 26416 384783 666279	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	Slc6a8	102857	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1824	status epilepticus Aliases: Grand mal status	Abcb1b Abcc2 Abcc8 Abcg2 Acan Adam10 Adam9 Ank3 Apod Aqp1 Aqp4 Bax Bdnf Ccl2 Ccr5 Cfl1 Cnr1 Dmd Dpysl2 Gabrb3 Ghsr Gjb6 Gria1 Gria2 Grik1 Grin1 Grin2a Grn Gsk3b Hcn1 Hrh3 Hsd11b1 Hspa1a Idh2 Il6st Kcnc4 Kcnj11 Kcnk3 Mef2c Mmp9 Mtor Nlgn1 Nlgn2 Nr3c1 Nt5e Ntf3 Ogg1 Pgf Plat Plaur Prkcb Ptgs2 Ptprz1 Rela Reln Slc6a8 Slc8a1 Slc8a2 Slc8a3 Sod2 Src Sstr4 Tnf Xrn2	102857 110891 110893 11487 11502 11595 11735 11815 11826 11829 12028 12064 12631 12774 12780 12801 12934 13405 14402 14623 14799 14800 14805 14810 14811 14815 14824 15165 15483 16195 16514 16527 17260 17395 18205 18294 18654 18669 18751 18791 18793 192167 19225 19283 193740 19697 19699 20296 20541 20608 20656 20779 208188 20927 216856 21926 23959 24128 26357 269951 56637 56717 99296 99738	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1059	intellectual disability	Agtr2 Ank2 Ank3 Arhgef6 Atf7ip Atrx Bod1l Casr Cc2d1a Cdk13 Cdkl5 Cntnap2 Cul4b Dmd Drd4 Dyrk1b Eif4a3 Gatad2a Gatad2b Gpi1 Gpm6a Gpm6b Gprasp2 Hivep2 Hpn Il1rapl1 Irs1 Irs2 Itga2b Itga5 Itga8 Itgav Itsn1 Kansl1 Kras Mef2c Mef2d Ndst1 Ndst2 Ndst3 Ndst4 Nono Plp1 Pogz Prss12 Psmb1 Rbfox1 Rbfox2 Rbfox3 Rbl1 Rbl2 Ryk Sars1 Slc6a8 Tsc1 Ubr4 Ywhaq Ywhaz Zc3h14	102857 109676 11609 11735 12374 13405 13491 13549 14751 14758 15273 15451 15531 16367 16399 16402 16410 16443 16653 17260 17261 17423 18823 19142 19170 192170 19650 19651 20187 20226 212139 22589 22630 22631 229542 229584 234267 234366 241226 245607 268859 331461 382253 384783 52897 53610 54343 64580 64930 665775 66797 69116 69562 72584 73341 75553 76719 83398 93686	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa Aliases: pericentral pigmentary retinopathy	ABCA4 ADGRV1 AIFM1 BCAN CA4 CAT CC2D2A CLRN1 CNGA1 CNGB1 CRB1 CRB2 CWC27 EDN1 EPG5 EYS FDXR FGFR2 GRIN2B GUCY2D HGF HK1 HKDC1 IMPG1 KL MFRP MT1E MT1H MT2A NGF PDE6B POC5 POMGNT1 PRPF3 PRPF4 PRPF8 PRPH2 PRPS1 PTEN RGR RHO RLBP1 SERPINF1 SLC6A6 SNRNP200 SOD1 USH2A VEGFA	10283 10594 1258 1259 134359 1906 2232 2263 23020 23418 24 286204 2904 3000 3082 3098 346007 3617 4493 4496 4502 4803 5158 5176 55624 5631 5728 57545 57724 5961 5995 6010 6017 63827 6533 6647 7399 7401 7422 762 80201 83552 84059 847 9128 9129 9131 9365	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080238	autosomal dominant intellectual developmental disorder 47 Aliases: autosomal dominant mental retardation 47	STAG1	10274	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080137	multiple endocrine neoplasia type 4 Aliases: Multiple Endocrine Neoplasia, Type IV	CDKN1B	1027	Homo sapiens (human)	Alliance of Genome Resources
DOID:3829	pituitary adenoma Aliases: adenoma of the Pituitary gland	AVPR1B CDKN1B SDHA	1027 553 6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:3125	multiple endocrine neoplasia Aliases: Multiple endocrine adenomatosis Multiple endocrine neoplasia syndrome	CDKN1B GHRL GHSR	1027 2693 51738	Homo sapiens (human)	Alliance of Genome Resources
DOID:9669	senile cataract	ATM CAT CDKN1B HSPA1B MT2A OGG1 SIRT1 XRCC1	1027 23411 3304 4502 472 4968 7515 847	Homo sapiens (human)	Alliance of Genome Resources

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