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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 **14551 - 14575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:2907	Goldenhar syndrome Aliases: Facio-auriculo-vertebral spectrum First AND second branchial arch syndrome First arch syndrome HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis	FGR HCK SF3B2 SRC	10992 2268 3055 6714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070388	developmental and epileptic encephalopathy 102 Aliases: DEE102 early infantile epileptic encephalopathy 102	SLC38A3	10991	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050758	metabolic acidosis	DAB2 EDN1 MYH9 RHCG SLC38A3 SLC4A1	10991 1601 1906 4627 51458 6521	Homo sapiens (human)	Alliance of Genome Resources
DOID:11832	visual epilepsy Aliases: epilepsy, visual	ABAT ABCB1 ABCC2 ABCC8 ADAMTS1 APEX1 APP ASPM BAD BAG3 BRD1 C7 CDKL5 CHRNA3 CIT CNTNAP2 CSTB DKK1 DRD3 EGR1 ENO2 EPO ERBB4 FAS FCGR2A FCGR3A FGFR1 GABBR1 GAP43 GLUD1 GLUD2 GLUL GRIA1 GRIK5 GRM8 HCN1 HCN2 HDAC2 HRH3 HSPA1A HSPA5 IFNG IL6R IL6ST KCNA1 KCNJ11 KDM3B L2HGDH MAP1B MARCKS MBD3 MECP2 MSH2 NFE2L2 NGFR NPY1R NPY5R NR3C1 NRG1 PAFAH1B1 PAWR PCSK1 PDGFB PLD1 PLD2 PLP1 PRICKLE1 PTGS2 PTPRZ1 REG3G RRM1 RTN4 SCN2B SLC12A2 SLC38A1 SLC38A2 SLC38A3 SLC6A11 SMO SPP1 SREBF2 SYT1 SYT4 TACR3 TNF TNFRSF1A TNFRSF1B TUBA1A VDAC1 VDAC2 VTN WFS1 WNT2 XRCC1 YWHAZ	10991 11113 11255 1136 1244 130120 144165 1476 18 1814 1958 2026 2056 2066 2212 2214 2260 22943 23774 2550 259266 2596 26047 2746 2747 2752 2890 2901 2908 2918 3066 3084 328 3303 3309 3458 348980 351 355 3570 3572 3736 3767 4082 4131 4204 4436 4780 4804 4886 4889 5048 5074 5122 5155 51780 5243 5337 5338 5354 53615 54407 57142 572 5743 5803 610 6240 6327 6538 6558 6608 6696 6721 6792 6833 6857 6860 6870 7124 7132 7133 730 7416 7417 7448 7466 7472 7515 7534 7846 79944 81539 9510 9531	Homo sapiens (human)	Alliance of Genome Resources
DOID:14755	argininosuccinic aciduria Aliases: Argininosuccinate lyase deficiency argininosuccinic acidemia arginosuccinase deficiency deficiency of argininosuccinate lyase	Asl	109900	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111460	cardiofaciocutaneous syndrome 1 Aliases: CFC1	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2571	Langerhans-cell histiocytosis Aliases: Histiocytosis X Langerhan's cell histiocytosis Langerhans cell granulomatosis Letterer-Siwe disease Letterer-Siwe disease involving intra-abdominal lymph nodes Letterer-Siwe disease involving intrapelvic lymph nodes Letterer-Siwe disease involving intrathoracic lymph nodes Letterer-Siwe disease involving lymph nodes of axilla and upper limb Letterer-Siwe disease involving lymph nodes of head, face and neck Letterer-Siwe disease involving lymph nodes of head, face, and neck Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb Letterer-Siwe disease involving lymph nodes of multiple sites Letterer-Siwe disease involving spleen Letterer-Siwe disease of intra-abdominal lymph nodes Letterer-Siwe disease of intrapelvic lymph nodes Letterer-Siwe disease of intrathoracic lymph nodes Letterer-Siwe disease of lymph nodes of axilla and upper limb Letterer-Siwe disease of lymph nodes of axilla and/or upper limb Letterer-Siwe disease of lymph nodes of head, face and neck Letterer-Siwe disease of lymph nodes of head, face and/or neck Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb Letterer-Siwe disease of lymph nodes of inguinal region and lower limb Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb Letterer-Siwe disease of lymph nodes of multiple sites Letterer-Siwe disease of spleen	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2679	dysembryoplastic neuroepithelial tumor Aliases: Dysembryoplastic Neuroepithelial neoplasm dysembryoplastic neuroepithelial tumour	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080550	Noonan syndrome with multiple lentigines 3 Aliases: LEOPARD syndrome 3	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060585	Noonan syndrome 7 Aliases: NS7	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5381	bile duct adenoma Aliases: Cholangioadenoma	Braf	109880	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4852	pleomorphic xanthoastrocytoma Aliases: Pleomorphic Xantho-astrocytoma	Braf Tsc1	109880 64930	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5742	pancreatic acinar cell adenocarcinoma Aliases: pancreatic acinar cell carcinoma	Braf Src	109880 20779	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6846	familial melanoma	Braf Mc1r Mitf	109880 17199 17342	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060233	cardiofaciocutaneous syndrome Aliases: CFC syndrome cardio-facial-cutaneous syndrome	Braf Kras Map2k1	109880 16653 26395	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3304	germinoma	Braf Pdpn	109880 14726	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1520	colon carcinoma Aliases: Colonic carcinoma carcinoma of colon	Braf Calr Crkl Efnb2 Flt3l H2-Aa Igf2r Prf1 Slco1b2 Src Tgfb1 Tgfb2 Tlr3 Tnfrsf1a Tnfrsf1b Vegfa	109880 12317 12929 13642 14256 142980 14960 16004 18646 20779 21803 21808 21937 21938 22339 28253	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2871	endometrial carcinoma Aliases: carcinoma of the Endometrium endometrioid carcinoma endometrioid carcinoma of female Reproductive system	Aurkb Braf Bsg Ccnb1 Cd82 Cdh13 Erap1 Fgf7 Gsk3b Jun Mmp8 Mmp9 Msh3 Ncoa1 Ncor2 Nos3 Pik3r1 Ptgs1 Rassf1 Smad4 Sparc Timp1 Trp53 Wnt2 Wnt4 Wnt5a	109880 12215 12521 12554 14178 16476 17128 17394 17395 17686 17977 18127 18708 19224 20602 20692 20877 21857 22059 22413 22417 22418 268697 56289 56637 80898	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2526	prostate adenocarcinoma	Adipoq Akt1 Akt2 Akt3 Braf Ccnb1 Cd9 Clu Creb3l4 Igf1r Ikbkb Insr Jun Kdr Map2k1 Myc Ncoa2 Pam Pdgfa Pdgfra Pik3cb Rela	109880 11450 11651 11652 12527 12759 16001 16150 16337 16476 16542 17869 17978 18484 18590 18595 19697 23797 26395 268697 74769 78284	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050700	cardiomyopathy Aliases: Cardiomyopathies	Acsl1 Adam10 Adipoq Amn Araf Asah2 Atp5f1b Bag3 Braf Casr Ccl2 Col15a1 Col18a1 Cxcr4 Des Egfbp2 Egfr Ep300 Erbb2 Erbb3 Erbb4 Got1 Hfe Ifng Igf1r Itga7 Jph1 Jph2 Jund Jup Klk1 Klk1b11 Klk1b16 Klk1b1 Klk1b21 Klk1b22 Klk1b24 Klk1b26 Klk1b27 Klk1b3 Klk1b4 Klk1b5 Klk1b8 Klk1b9 Kras Ldb3 Lrp1 Mlycd Mmp2 Mmp9 Myh13 Myh1 Myh2 Myh3 Myh4 Myh6 Myh7 Myh7b Ncam1 Nono Nos3 Pde2a Pdlim5 Pdlim7 Phactr1 Pomt1 Ppargc1a Ppp3ca Rph3a Rragc Sgcd Sgcg Sgcz Slc22a21 Slc22a5 Slc31a1 Slc4a1 Sod2 Sparc Sparcl1 Srf Tab2 Tbx20 Tnf Tnni3 Tshr Uts2r	109880 11450 11487 11836 11947 12374 12767 12819 12822 13346 13602 13646 13647 13648 13649 13866 13867 13869 140781 14081 14718 15216 15978 16001 16404 16478 16480 16612 16613 16615 16616 16617 16618 16619 16622 16623 16624 16653 16971 17390 17395 17879 17882 17883 17884 17888 17967 18048 18050 18127 19017 19055 19894 20296 20520 20529 20533 20656 20692 207728 20807 217369 218194 21926 21954 22095 24052 24053 24131 244431 29810 328572 53610 54170 54447 544791 56376 56517 56690 57246 57339 59091 668940 67399 68652 93835 99011	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3969	thyroid gland papillary carcinoma Aliases: Papillary carcinoma of the Thyroid gland	Braf Cdh1 Ctnnb1 Minpp1 Myc Rap1gap Rxrg Srgap1 Trp53	109880 110351 117600 12387 12550 17330 17869 20183 22059	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4947	cholangiocarcinoma Aliases: adult primary Cholangiocarcinoma adult primary cholangiocellular carcinoma cholangiosarcoma	Abcc2 Adrb2 Asph Braf Epo Epor Ezh2 Fasl Fscn1 Gnas Hdac6 Hgf Il1r2 Il4ra Ins1 Ins2 Kit Krt7 Met Mfsd4a Mki67 Mmp2 Mmp9 Muc1 Muc4 Muc5ac Muc5b Muc6 Ncam1 Notch1 Ogg1 Osbp2 Panx2 Ppia Ppp3ca Prss56 Ptgs2 Reg1 Rnf43 Slc4a4 Slc7a5 Sox2 Tgfb1 Tgfbr2 Thbs1 Tnc Tnfaip3 Ttr Ugt1a10 Ugt1a7c Ugt1a8 Ugt1a9 Wdhd1 Wnt9a	109880 110310 11555 12780 13856 13857 140474 14056 14086 14103 14683 15185 15234 16178 16190 16333 16334 16590 17295 17345 17390 17395 17829 17833 17967 18128 18294 19055 19225 19692 20539 20674 207742 213006 216795 21803 21813 21825 218973 21923 21929 22139 268373 353328 394430 394432 394434 406218 54403 613123 65973 69453 74180 74309	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060300	complement component 7 deficiency	C7	109828	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10976	membranous glomerulonephritis Aliases: membranous nephropathy	A2m Abca1 C3 C7 Cd40 Cfb Cfh Cfhr4 H2-Aa Lrp2 Lrpap1 Mme Mmp9 Nphs1 Ptpru Shh Sparc Trf	109828 11303 12266 12628 14725 14960 14962 16976 17380 17395 19273 20423 20692 214403 21939 22041 232345 54631	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2229	factor XI deficiency Aliases: Congenital factor XI deficiency Hereditary factor XI deficiency disease Rosenthal's disease hemophilia C plasma thromboplastin antecedent deficiency	F11	109821	Mus musculus (house mouse)	Alliance of Genome Resources

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