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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 **10126 - 10150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:9255	frontotemporal dementia Aliases: Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration	BACE2 CHMP2B EWSR1 FUS GRN LRRK2 MAPT NEFL TARDBP TREM2 UBQLN1 UBQLN2 UBQLN4 VCP	120892 2130 23435 2521 25825 25978 2896 29978 29979 4137 4747 54209 56893 7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111663	ectodermal dysplasia 10A Aliases: ECTD10A ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	EDAR	10913	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110948	Waardenburg syndrome type 1 Aliases: WS1 Waardenburg syndrome type I	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060479	Shwachman-Diamond syndrome Aliases: Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond type metaphyseal dysplasia pancreatic insufficiency and bone marrow dysfunction	EFL1 EIF6 RPL3 SERPINI2 SRP54	3692 5276 6122 6729 79631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050604	acrocapitofemoral dysplasia	IHH	3549	Homo sapiens (human)	Alliance of Genome Resources
DOID:3008	invasive ductal carcinoma Aliases: Infiltrating ductal carcinoma of breast Invasive ductal carcinoma, NST ductal adenocarcinoma	ABCB1 ADAM28 ADGRB1 AGER AKT1 ANXA1 ANXA2 AR AREG CCL5 CD44 CLU CRKL DLG1 EZH2 FOXC1 HIF1A HSD17B1 IL13 INHA JUP KIT MAP2K4 MET MMP13 NCOA4 NEFL NTRK3 PCNA RAD50 RUNX3 SOCS3 TMBIM6 UBR5 VEGFC WIF1 XRCC1	10111 10863 11197 1191 1399 1739 177 207 2146 2296 301 302 3091 3292 3596 3623 367 3728 374 3815 4233 4322 4747 4916 5111 51366 5243 575 6352 6416 7009 7424 7515 8031 864 9021 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2 Aliases: AMC neurogenic type AMC2 AMCN arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita neurogenic type	ERGIC1	57222	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria	SLC34A1 SLC34A3	142680 6569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060363	glycerol kinase deficiency	GK2 GK	2710 2712	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Aliases: hereditary diffuse leukoencephalopathy with spheroids	CSF1R	1436	Homo sapiens (human)	Alliance of Genome Resources
DOID:439	neuromuscular junction disease	IDH3A SYT1 SYT2	127833 3419 6857	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080836	growth hormone insensitivity syndrome with immune dysregulation 1	STAT5A STAT5B	6776 6777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110495	autosomal recessive nonsyndromic deafness 37 Aliases: DFNB37 autosomal recessive deafness 37	MYO6	4646	Homo sapiens (human)	Alliance of Genome Resources
DOID:4465	papillary renal cell carcinoma Aliases: Chromophil carcinoma of kidney papillary kidney carcinoma sporadic papillary renal cell carcinoma	MET PRCC	4233 5546	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Aliases: FTDALS3	SQSTM1	8878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060180	colitis	ADIPOQ ADRB3 ANXA1 APOA4 ARRB1 BMP6 CAT CCKBR CCL2 CCR1 CD40 CHUK CRHR2 CXCR2 HAVCR1 HLA-B HP HPR ICAM1 ICOS IKBKB IL10 IL17A KDR LCT MIF MSH2 MUC2 NOD2 NOS2 NOS3 NTRK1 NTRK2 PPARGC1A PTGS2 RELA SELL SELP SI TACR1 TACR2 TFF1 TLR3 TLR4 VCAM1	10891 1147 1230 1395 155 26762 29851 301 3106 3240 3250 337 3383 3551 3579 3586 3605 3791 3938 408 4282 4436 4583 4843 4846 4914 4915 5743 5970 6347 6402 6403 64127 6476 654 6865 6869 7031 7098 7099 7412 847 887 9370 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	ARID1A BICRAL SMARCC1 SMARCC2 SMARCD1 SMARCD2	23506 6599 6601 6602 6603 8289	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070112	Niemann-Pick disease type B	SMPD1	6609	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:2596	larynx cancer	CXCR4 ERCC5 ERCC6 GPX1 NOD2 VEGFA	2073 2074 2876 64127 7422 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:9352	type 2 diabetes mellitus Aliases: NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus	ABCA1 ABCB1 ABCC2 ABCC8 ABCG2 ACE ACOT2 ADAM17 ADAMTS20 ADAMTS4 ADAMTS8 ADAMTS9 ADCY5 ADIPOQ ADM ADRA2A ADRB2 ADRB3 AFF2 AFF3 AFF4 AGER AGT AGTR2 AHSG AKR1B1 AKT1 AKT2 AKT3 ALDH2 ALDOB ALMS1 ALOX12 ANGPT2 AOC3 APOA1 APOA2 APOA5 APOB APOC2 APOD APOE APOH APOM AR ARNT ARX ASIP ATP5F1B AVP AXL B2M BAD BAX BCHE BCL11A BCL11B BDNF BTC CACNA1D CADM2 CALCA CAPN10 CASP7 CASP9 CASQ1 CAT CCKAR CCL2 CCL5 CCN2 CCR2 CCR5 CD36 CD38 CD40LG CDK7 CDKAL1 CEL CHI3L1 CNR1 COL3A1 CP CPB2 CPE CPT1A CRHR1 CRTC2 CTSB CTSL CYB5R4 CYP11A1 CYP11B2 CYP1A1 CYP2C19 CYP2C8 CYP2C9 CYP2E1 DAG1 DCN DEFB1 DNM1L DNMT1 DPP4 DRD2 EDN1 EDNRA EDNRB EIF3F ENPP1 EPAS1 EPO ESR1 F12 F2 F3 F7 F8 F9 FASLG FBN1 FFAR1 FGA FGB FGG FOXM1 FRZB FTO FUCA1 G6PC1 G6PD GAL GCGR GCK GFPT1 GFPT2 GGT1 GH2 GHR GHRL GIPR GLO1 GP6 GPD2 GPX3 GSK3B HFE HIF1A HK2 HLA-DQA1 HMGCR HNF1A HP HPR HSD11B1 HSD11B2 HSD17B3 HSD3B1 HSPA1B HSPA4 HTR2C ICAM1 IFNG IGF1R IGF2 IGF2R IGFBP3 IKBKB IL10 IL1RN IL6 INPPL1 INS INSR INSRR IRS1 IRS2 IRS4 ITGA2 ITGAM KCNJ11 KCNMB1 KCNN4 KCNQ1 KDR KL LCN2 LEP LEPR LINC02210-CRHR1 LIPC LMNA LNPEP LPL LTA MADD MAFA MAPK8IP1 MAPK9 MIF MKI67 MLXIPL MMP1 MMP2 MMP3 MMP9 MT2A MTNR1A MTNR1B MTOR MTR NAMPT NCOA6 NFE2L1 NFE2L2 NOG NOS1 NOS2 NOS3 NPPB NR1D1 NR1H3 NR2F2 NR3C1 NUCB2 OGA OGG1 OGT OXCT1 P2RY12 PAPPA PARP1 PCK1 PCSK1 PCSK2 PDX1 PIK3C2A PIK3C2G PIK3CB PIK3CD PKLR PLA2G7 PLAT PLAUR PNPLA3 POMC PON1 PON2 PPARD PPARG PPARGC1A PPARGC1B PPP1CA PPP1CC PPP1R3A PPP1R3C PRKAA1 PRKAA2 PTGDS PTGIS PTGS2 PTPN1 PTPRD RARRES2 RBP4 REG3G RHEB RPS6KB1 RRAD SCN1B SDC2 SDF2L1 SDHB SELL SELP SERPINA12 SERPINC1 SERPINE1 SERPINF1 SGCG SHBG SIRT1 SIRT3 SLC2A1 SLC2A2 SLC2A3 SLC2A4 SLC9A1 SMAD4 SMC1A SNAP25 SOCS3 SOD1 SOD2 SOD3 SORBS1 SPHK1 SRC SRD5A1 SREBF1 SREBF2 STAT3 TGFB1 TGFBR2 THBD TIMP1 TIMP3 TLR4 TNF TNFRSF11B TNFRSF1A TRPC6 UCP2 UCP3 UGT1A10 UGT1A1 UGT1A6 UGT1A7 UGT1A8 UGT1A9 VCAM1 VEGFA VPS26A WFS1 XRCC1	10000 10059 10062 10135 1022 104909134 1056 10580 10724 10891 10965 11095 111 11132 1116 116519 1234 1244 1268 1281 130120 133 133522 1356 1361 1363 1374 1394 142 145264 1490 150 1508 1514 154 1543 155 1557 1558 1559 1571 1583 1585 1605 1634 1636 1672 170302 177 1786 1803 1813 183 186 19 1906 1909 1910 197 200186 2034 2056 207 208 2099 2147 2152 2155 2157 2158 2161 217 2200 2243 2244 2266 229 2305 23054 231 2334 23410 23411 23753 239 2475 2487 2517 253559 2538 2539 2642 2645 2673 2678 2689 2690 2696 27125 2739 2820 285 2864 2878 2908 2932 3077 3091 3099 3117 3156 3240 3250 3283 3290 3291 3293 3304 3308 335 3358 336 338 3383 344 3458 347 348 3480 3481 3482 3486 350 3551 3557 356 3569 3586 3630 3636 3643 3645 3651 3667 367 3673 3684 3767 3779 3783 3784 3791 389692 3899 3934 3952 3953 3990 4000 4012 4023 4049 405 4089 4282 4288 4312 4313 4314 4318 434 4502 4543 4544 4548 462 4779 4780 4842 4843 4846 4879 4925 4968 4982 5019 5054 506 5069 5105 51083 51085 51167 51206 5122 5126 5167 51738 5176 5243 5286 5288 5291 5293 5313 5327 5329 53335 5443 5444 5445 54575 54576 54577 54578 54600 54658 5467 5468 54901 5499 5501 5506 5507 551 5562 5563 558 55937 5601 567 56999 572 5730 5740 5743 5770 5789 581 590 5919 5950 6009 6198 6236 627 6324 6347 6352 6383 6390 6402 6403 6445 6462 64805 64919 6513 6514 6515 6517 6548 6616 6647 6648 6649 6714 6715 6720 6721 6774 6833 685 6868 6927 7026 7040 7048 7056 7076 7078 7099 7124 7132 7225 729230 7351 7352 7412 7422 7466 7515 776 7840 79068 7941 796 80070 80339 8243 840 842 844 847 8471 8473 8567 8639 8660 8665 886 8877 9021 9241 9365 9370 9429 9479 948 9507 952 9559 9572 959 9945	Homo sapiens (human)	Alliance of Genome Resources
DOID:3070	high grade glioma Aliases: Neuroglial tumor glial cell tumor glioma, malignant malignant Neuroglial tumor malignant glioma	ABCB1 AKT2 ANGPT2 AREG ASPM ATRX BAD BARHL1 BCAN BDKRB2 BRCA2 BRD7 CAMK2A CAMKK2 CCN1 CD80 CHAF1A CHAF1B CNTN2 CSF1 CTSB CXCR3 CYP2E1 DCN DDR1 DLK1 E2F1 EFEMP1 EGF EGFR ENTPD2 EPO EPOR ERBB2 ERCC5 F2 FGFR1 FGFR2 FGFR3 FGFR4 FLT3LG HDAC3 HELLS HGF HMGB1 HRAS HSPA5 IDH1 IDH2 IFNG IGF1R IGFBP3 IL10 IL2 IL7 INSR INSRR KDM5B KDR KRAS LGALS3 LTA MAP2K1 MAPKBP1 MET MKI67 MMP2 MTOR NADSYN1 NF1 NOS3 NRAS PCMT1 PDGFA PDGFB PIK3CB PIK3CD PIK3R3 PLAU POLE PRKCA PTEN RAF1 RNF43 SERPINE1 SETDB1 SH3GL1 SIRT2 SLC44A1 SLC6A3 SLC7A5 SOX6 SPHK1 SPP1 ST6GAL1 TNC TNF TP53 WDR62 XRCC1	10036 10645 10765 1435 1508 1571 1634 1869 1950 1956 2056 2057 2064 2073 208 2147 2202 2260 2261 2263 2264 22933 23005 2323 23446 2475 259266 2833 284403 285 29117 3070 3082 3146 3265 3309 3371 3417 3418 3458 3480 3486 3491 3558 3574 3586 3643 3645 374 3791 3845 3958 4049 4233 4288 4313 4763 4846 4893 5054 5110 5154 5155 5243 5291 5293 5328 5426 546 54894 55191 55553 5578 5604 56751 572 5728 5894 624 63827 6455 6480 6531 6696 675 6900 7124 7157 7515 780 8140 815 8208 8503 8788 8841 8877 941 954 9869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111390	mucopolysaccharidosis Ih Aliases: Dysostosis multiplex syndrome Hurler disease MPS type 1H Hurler-Pfaundler syndrome L-iduronidase deficiency, Hurler type MPS1-H Mucopolysaccharidosis type I severe form dysostosis multiplex gargoylism	IDUA	3425	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:6457	Cowden syndrome Aliases: Cowden disease Lhermitte-Duclos disease dysplastic Gangliocytoma of Cerebellum	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:11336	rhinoscleroma	HLA-DQA1 HLA-DQB1	3117 3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110465	autosomal recessive nonsyndromic deafness 104 Aliases: DFNB104 autosomal recessive deafness 104	RIPOR2	9750	Homo sapiens (human)	Alliance of Genome Resources

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