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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 **1551 - 1575** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:10325	silicosis Aliases: Pneumoconiosis due to silicates Silica pneumoconiosis Silicotic fibrosis of lung silicotuberculosis	C3 CCL7 CD36 CHIA CSF2 CTLA4 EGR1 ELN HLA-DQB1 HNRNPA3 IL1RN KIF3A MARCO MMP13 TERT TNF	11127 1437 1493 1958 2006 220988 27159 3119 3557 4322 6354 7015 7124 718 8685 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:1934	dysostosis	EFNB1 KIF3A	11127 1947	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060786	hypomyelinating leukodystrophy Aliases: HLD	DEGS1 POLR3A POLR3B	11128 55703 8560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060794	hypomyelinating leukodystrophy 7 Aliases: HLD7 TACH syndrome ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy dentoleukoencephalopathy hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome leukodystrophy with oligodontia leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome tremor-ataxia-central hypomyelination syndrome	POLR3A	11128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081333	Wiedemann-Rautenstrauch syndrome Aliases: Neonatal progeroid syndrome PROGEROID SYNDROME, NEONATAL	POLR3A	11128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112022	non-syndromic X-linked intellectual disability 21 Aliases: MRX21 MRX34 X-linked mental retardation 21 X-linked mental retardation 21/34 X-linked mental retardation 34	IL1RAPL1	11141	Homo sapiens (human)	Alliance of Genome Resources
DOID:4674	androgen insensitivity syndrome Aliases: Androgen resistance syndrome Androgen-Insensitivity Syndrome Feminisation - testicular Goldberg - Maxwell syndrome Goldberg-Maxwell syndrome testicular Feminization syndrome testicular feminization	AR FKBP4 KAT7	11143 2288 367	Homo sapiens (human)	Alliance of Genome Resources
DOID:11294	arteriovenous malformation Aliases: Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma	ACVRL1 ENG GLMN MAP2 MMP9 RASA1 TEK	11146 2022 4133 4318 5921 7010 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:2431	glomus tumor Aliases: Glomus neoplasm Glomus tumour	GLMN	11146	Homo sapiens (human)	Alliance of Genome Resources
DOID:2436	glomangioma Aliases: Glomuvenous Malformation	GLMN	11146	Homo sapiens (human)	Alliance of Genome Resources
DOID:6419	tetralogy of Fallot Aliases: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	BMP10 CFC1B DNAH5 DOCK1 FGF8 GATA4 HIRA INVS JAG1 MTHFD1 NRP1 NTF3 PHC1 POPDC1 PTPN11	11149 1767 1793 182 1911 2253 2626 27130 27302 4522 4908 5781 653275 7290 8829	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110290	autosomal recessive limb-girdle muscular dystrophy type 2X Aliases: LGMD2X muscular dystrophy, limb-girdle, type 2X	POPDC1	11149	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090014	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive Aliases: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID	CORO1A JAK3	11151 3718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060019	coronin-1A deficiency	CORO1A	11151	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	WDR45	11152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080092	myofibrillar myopathy 1 Aliases: autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy	DES LDB3	11155 1674	Homo sapiens (human)	Alliance of Genome Resources
DOID:11720	distal myopathy Aliases: distal muscular dystrophy	LDB3 MYH15 MYH1 MYH7	11155 22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081337	congenital myopathy	HACD1 LDB3 MYBPC1	11155 4604 9200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110423	dilated cardiomyopathy 1C Aliases: CMDC1 dilated cardiomyopathy 1C with or without left ventricular noncompaction	LDB3	11155	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050685	small cell carcinoma Aliases: Small cell carcinoma - intermediate cell Small cell carcinoma, intermediate cell intermediate cell small cell carcinoma	CHI3L1 CHRM3 IKZF3 IL6 RB1 TERT TNF WIF1	1116 11197 1131 22806 3569 5925 7015 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:3371	chondrosarcoma Aliases: Cartilaginous cancer chondrosarcoma of bone primary chondrosarcoma of the bone	CHI3L1 COL2A1 EXT1 FGFR3 MTOR	1116 1280 2131 2261 2475	Homo sapiens (human)	Alliance of Genome Resources
DOID:1380	endometrial cancer Aliases: endometrial Ca endometrial neoplasm malignant endometrial neoplasm malignant neoplasm of endometrium neoplasm of endometrium primary malignant neoplasm of endometrium tumor of Endometrium	ADRB3 AFP AKT2 APC APEX1 AR ATM ATR BAD BRCA2 BST2 CD59 CD9 CDC25B CDH1 CHI3L1 COMT CYP19A1 CYP1A1 CYP1A2 EFEMP2 EGF ERRFI1 IL10 JAK1 JUP LTA MRE11 MSH6 NOTCH1 NOTCH4 PGM1 PIK3CB PIK3CD POLE PTEN RNF43 RUNX1 SHBG SPAG9 SULT1E1 TFF1 TNFRSF1A TNFRSF1B TP53 TYMP UGT1A1	1116 1312 1543 1544 155 1588 174 1890 1950 208 2956 30008 324 328 3586 367 3716 3728 4049 4361 472 4851 4855 5236 5291 5293 54206 5426 545 54658 54894 572 5728 6462 675 6783 684 7031 7132 7133 7157 861 9043 928 966 994 999	Homo sapiens (human)	Alliance of Genome Resources
DOID:9470	bacterial meningitis	ACHE BCHE BDNF CD46 CHI3L1 MMP9 NGF PARP1 TREM1	1116 142 4179 43 4318 4803 54210 590 627	Homo sapiens (human)	Alliance of Genome Resources
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	CCL2 CHI3L1 CSF2 DLL1 ELN FCGR2A FCGR3A HLA-DRB1 IFNG IL17A IL21R IL4 JAG1 MBL2 MFGE8 MMP2 MMP9 TLR4	1116 1437 182 2006 2212 2214 28514 3123 3458 3565 3605 4153 4240 4313 4318 50615 6347 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:9538	multiple myeloma Aliases: myeloma	ABCG2 ACE ALB APOE B2M CBL CCN1 CD40 CD40LG CD46 CD86 CFHR1 CHI3L1 CTLA4 CYP1A1 CYP2C19 DSG2 ENG EXOSC2 FASLG FCGR2A FGG FLT3LG FTO GPX1 GPX3 HFE HK1 ICAM1 IGF2R IL10 IL1A IL1RN IL4R IRF4 KRAS MEFV MET MTR NONO NOTCH2 NOX1 NRAS PON1 RANBP2 ROBO1 SOD2 SPARC SPP1 TERT TFRC TGFB1 TNF TNFRSF10A TNFRSF17 TP53 TYMS VEGFA XPO5 XRCC5	1116 1493 1543 1557 1636 1829 2022 213 2212 2266 2323 23404 27035 2876 2878 3077 3078 3098 3383 348 3482 3491 3552 3557 356 3566 3586 3662 3845 4179 4210 4233 4548 4841 4853 4893 5444 567 57510 5903 608 6091 6648 6678 6696 7015 7037 7040 7124 7157 7298 7422 7520 79068 867 8797 942 9429 958 959	Homo sapiens (human)	Alliance of Genome Resources

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