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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 **376 - 400** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ACE ACHE ADIPOQ ADRB1 AGER ALDH2 AOC3 APOA1 APOA2 APOB APOC3 APOE APOM AVP BCHE BTC C3 CASP9 CBL CCL11 CCL2 CCL5 CCR2 CCR5 CD14 CD28 CD38 CD40 CD40LG CD80 CD86 CEL CFB CHI3L1 CLEC16A CP CTLA4 CYP27B1 CYP2E1 CYP2R1 DOCK8 E2F1 EDN1 EGFR EIF2AK3 F7 FADS2 FAS FASLG FUCA1 G6PC2 G6PD GAD2 GAL GC GH2 GHR GPX3 HDAC1 HDAC2 HDAC3 HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HNF1A HP HPR HSD11B2 ICAM1 IFNG IFNGR2 IGF2 IGF2R IGFBP3 IL10 IL15 IL1A IL1R1 IL1RN IL2 IL2RA IL4 IL6 INS IRAK3 ITPR3 LGALS3 LIPC LTA MBL2 NCAM1 NOS2 NOTCH4 PDX1 PLAT PON1 PRF1 PRRC2A PRSS1 PTPRN2 PTPRN REG1A SELE SELL SENP1 SERPINA7 SERPINF1 SLC11A1 SLC18A2 SOD1 SOD2 SREBF2 STAT4 TAP1 TBP TF TGFB1 THBD TIMP1 TLR2 TLR3 TLR4 TNF TNFSF4 UGT1A1 VAV1 VCAM1 VWF WFS1 XYLT1 YY1	1056 1116 11213 120227 1234 1356 1493 153 1571 1594 1636 177 1869 1906 1956 2155 217 23274 2517 2539 2572 2638 2689 2690 2878 29843 3065 3066 3113 3115 3117 3119 3123 3240 3250 3291 335 336 338 3383 345 3458 3460 348 3481 3482 3486 355 3552 3554 3557 3558 3559 356 3565 3569 3586 3600 3630 3651 3710 3958 3990 4049 4153 43 4684 4843 4855 51083 5176 5327 5444 54658 551 5551 55937 5644 57818 5798 5799 590 5967 629 6347 6352 6356 6401 6402 64131 6556 6571 6647 6648 6721 6775 685 6890 6906 6908 6927 7018 7040 7056 7076 7097 7098 7099 7124 718 7292 729230 7409 7412 7450 7466 7528 7916 81704 842 8639 867 8841 929 9370 940 941 9415 942 9451 952 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:9574	choanal atresia Aliases: Atresia of nares Imperforate nares posterior choanal atresia	SMCHD1	23347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050886	Troyer syndrome Aliases: SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20	SPART	23111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111911	spermatogenic failure 34 Aliases: SPGF34	FSIP2	401024	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081319	multiple synostoses syndrome 3	FGF9	2254	Homo sapiens (human)	Alliance of Genome Resources
DOID:3317	hepatic angiomyolipoma	TSC2	7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050742	nicotine dependence Aliases: tobacco use disorder	ADRA2A CCK CHRFAM7A CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7 CHRNB3 CHRNB4 COMT CREB1 CYP2B6 DRD2 DRD3 FIGNL1 FOS GABBR1 GABBR2 GRIN2B HTR1A HTR1B HTR2A HTR2C HTR3A LCP1 NCAM1 NPY1R OPRM1 PLCB4 POMC RPTOR SLC6A3 TRPC3 TRPC4 TRPC5 TRPC6 TRPC7	1136 1137 1138 1139 1142 1143 1312 1385 150 1555 1813 1814 2353 2550 2904 3350 3351 3356 3358 3359 3936 4684 4886 4988 5332 5443 57113 57521 63979 6531 7222 7223 7224 7225 885 8973 89832 9568	Homo sapiens (human)	Alliance of Genome Resources
DOID:374	nutrition disease Aliases: Nutritional disorder	TFRC	7037	Homo sapiens (human)	Alliance of Genome Resources
DOID:263	kidney cancer Aliases: malignant neoplasm of kidney except pelvis malignant tumour of kidney renal cancer	FGF9 HRAS KRAS LATS1 LATS2 LLGL1 LLGL2 NRAS POLE PPARGC1A SCRIB	10891 2254 23513 26524 3265 3845 3993 3996 4893 5426 9113	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111904	autosomal recessive thrombophilia due to protein C deficiency Aliases: THPH4 autosomal recessive PROC deficiency autosomal recessive protein C deficiency	PROC	5624	Homo sapiens (human)	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	GBA1 PKLR TNF	2629 5313 7124	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080528	bronchiectasis 3	SCNN1G	6340	Homo sapiens (human)	Alliance of Genome Resources
DOID:90	degenerative disc disease Aliases: cervical disc degenerative disease intervertebral disc degeneration lumbar disc degeneration vertebral disc disease	ACAN ADAMTS4 ADAMTS5 ASPN COL10A1 COL1A1 COL2A1 CRK FOS GSK3B MMP13 MMP1 MMP3 NGF NGFR PAPPA POSTN TIMP1	10631 11096 1277 1280 1300 1398 176 2353 2932 4312 4314 4322 4803 4804 5069 54829 7076 9507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	TJP2	9414	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112277	immunodeficiency 79 Aliases: IMD79	CD4	920	Homo sapiens (human)	Alliance of Genome Resources
DOID:9663	aphthous stomatitis Aliases: Aphtha Aphthous ulceration Canker sore Oral aphthae oral ulcer	HFE HSPD1 IL10 TGFB1	3077 3329 3586 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060836	isolated microphthalmia 4 Aliases: MCOP4	GDF6	392255	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111015	Newfoundland cone-rod dystrophy Aliases: NFRCD	RLBP1	6017	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080988	pretibial dystrophic epidermolysis bullosa	COL7A1	1294	Homo sapiens (human)	Alliance of Genome Resources
DOID:11211	buphthalmos Aliases: primary congenital glaucoma 3A simple buphthalmos	CYP1B1 FOXC1 TYR	1545 2296 7299	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:11168	anogenital venereal wart Aliases: Anogenital Human papilloma Virus Infectious Disease Anogenital warts Genital warts genital wart virus infectious disease venereal wart	CTLA4 IL10 IL12B IL21 IL2 IL4 IL6 KLRK1 MYD88 NCR1 PDCD1 PTPN11 PTPN6 SERPINF1 TGFB1 TLR2 TLR3 TLR4 TLR7 TLR8 TLR9 TNF TNFRSF18	1493 22914 3558 3565 3569 3586 3593 4615 51284 51311 5133 5176 54106 5777 5781 59067 7040 7097 7098 7099 7124 8784 9437	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112368	Coffin-Siris syndrome 5 Aliases: CSS5	SMARCE1	6605	Homo sapiens (human)	Alliance of Genome Resources
DOID:3965	Merkel cell carcinoma Aliases: Trabecular adenocarcinoma trabecular carcinoma	CD68 FGFR3	2261 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation Aliases: carbohydrate-deficient glycoprotein syndrome	ALG1 ALG1L2 ALG3 ATP6AP2 B4GALT1 NUS1 PMM2	10159 10195 116150 2683 5373 56052 644974	Homo sapiens (human)	Alliance of Genome Resources

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