GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **3401 - 3425** of **4649** in total

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Disease ID ▲	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:13241	Behcet's disease Aliases: Adamantiades-Behcet disease Behcet syndrome Behet's syndrome triple symptom complex	ABCB1 ACE ADIPOQ CAT CCL2 CCR5 CD40LG CFB CPB2 CTLA4 CYP1A1 DHCR7 EDN1 F5 FAS FCGR3A HLA-B HLA-DMA HLA-DMB HLA-DQB1 HLA-DRB1 ICAM1 IFNG IL10 IL17A IL1RN IL21R IL23R IL2 IL4 IL6 ITGA2 ITGAM MBL2 MMP2 MMP9 NOD2 NOS3 PON1 PROZ SERPINE1 SLC11A1 SOD1 STAT3 STAT4 TGFB1 TLR2 TLR3 TLR4 TNF TNFRSF1A VEGFA VIM VWF	1234 1361 149233 1493 1543 1636 1717 1906 2153 2214 3106 3108 3109 3119 3123 3383 3458 355 3557 3558 3565 3569 3586 3605 3673 3684 4153 4313 4318 4846 5054 50615 5243 5444 629 6347 64127 6556 6647 6774 6775 7040 7097 7098 7099 7124 7132 7422 7431 7450 847 8858 9370 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:13250	diarrhea	LCT MME SLC26A3	1811 3938 4311	Homo sapiens (human)	Alliance of Genome Resources
DOID:13252	mesenteric vascular occlusion	ICAM1 TREM1	3383 54210	Homo sapiens (human)	Alliance of Genome Resources
DOID:13254	diverticulitis of colon Aliases: colonic diverticular disease	CD163 CD68	9332 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:13258	typhoid fever Aliases: Typhoid	CFTR HLA-DQB1 HLA-DRB1 LTA TNF	1080 3119 3123 4049 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	ACO1 ALAS1 EPO GBE1 IREB2	2056 211 2632 3658 48	Homo sapiens (human)	Alliance of Genome Resources
DOID:13269	hereditary coproporphyria Aliases: Coproporphyrinogen oxidase deficiency hereditary coproporphyria porphyria	CPOX	1371	Homo sapiens (human)	Alliance of Genome Resources
DOID:13270	erythropoietic protoporphyria Aliases: EPP Protoporphyria	ABCG2 ALAS1 CLPX UROS	10845 211 7390 9429	Homo sapiens (human)	Alliance of Genome Resources
DOID:13271	cutaneous porphyria Aliases: Erythropoietic porphyria	UROS	7390	Homo sapiens (human)	Alliance of Genome Resources
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	GALC IL13 TNF	2581 3596 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:13300	Scheuermann's disease Aliases: Juvenile osteochondritis of the spine Juvenile osteochondrosis of Scheurermann Juvenile osteochondrosis of spine Scheuermann's kyphosis Sherman's Disease	CLEC3B NFIX	4784 7123	Homo sapiens (human)	Alliance of Genome Resources
DOID:13316	exocrine pancreatic insufficiency Aliases: EPI	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:13317	hyperinsulinemic hypoglycemia Aliases: Islet cell hyperplasia nesidioblastosis persistent hyperinsulinemia hypoglycemia of infancy	ABCC8 GCK HK2 HK3 HKDC1	2645 3099 3101 6833 80201	Homo sapiens (human)	Alliance of Genome Resources
DOID:13336	congenital toxoplasmosis Aliases: Toxoplasmosis - congen.	HLA-DQA1	3117	Homo sapiens (human)	Alliance of Genome Resources
DOID:13359	Ehlers-Danlos syndrome Aliases: Cutis hyperelastica elastic skin	ADAMTS2 B3GALT6 B4GALT7 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DCN LOX PLOD1 TGFB1 TNXB	11285 126792 1277 1278 1281 1289 1290 1634 4015 5351 7040 7148 9509	Homo sapiens (human)	Alliance of Genome Resources
DOID:13365	reading disorder	CNTNAP2	26047	Homo sapiens (human)	Alliance of Genome Resources
DOID:13366	Stiff-Person syndrome Aliases: Stiff-man syndrome stiff man syndrome	HSD17B4 TRAK1	22906 3295	Homo sapiens (human)	Alliance of Genome Resources
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	SERPINA12 SERPINA1 SERPINB1 SERPINC1 SERPINE2 SERPINI1 SERPINI2 SYVN1	145264 1992 462 5265 5270 5274 5276 84447	Homo sapiens (human)	Alliance of Genome Resources
DOID:13374	fibrodysplasia ossificans progressiva Aliases: Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis	ACVR1 ACVRL1 BMP4	652 90 94	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:13378	Kawasaki disease Aliases: Kawasaki's disease MLNS acute febrile MCLS acute febrile mucocutaneous lymph node syndrome mucocutaneous lymph node syndrome	ADIPOQ AGER BTNL2 CCR2 CCR5 CD40 CD40LG CLU FLT1 HMGB1 HP HSPA1A HSPA1L MBL2 MMP9 NPPB SELP TIMP1 TLR4 TNF VEGFA	1191 1234 177 2321 3146 3240 3303 3305 4153 4318 4879 56244 6403 7076 7099 7124 729230 7422 9370 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:1338	congenital dyserythropoietic anemia Aliases: congenital dyshaematopoietic anaemia	CDAN1 DIAPH3 MAN2A1 RACGAP1 SEC23B	10483 146059 29127 4124 81624	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:13381	pernicious anemia Aliases: ANEMIA PERNICIOUS Addison's anaemia Biermer's anaemia Biermer's anemia pernicious anaemia	CBLIF	2694	Homo sapiens (human)	Alliance of Genome Resources
DOID:13382	megaloblastic anemia Aliases: Grasbeck-Imerslund syndrome Imerslund-Grasbeck syndrome MGA1 Norwegian type RH-MGA1 megaloblastic anaemia recessive hereditary megaloblastic anaemia 1 recessive hereditary megaloblastic anemia 1	AMN SLC19A2	10560 81693	Homo sapiens (human)	Alliance of Genome Resources
DOID:1339	Diamond-Blackfan anemia Aliases: Blackfan - Diamond syndrome chronic constitutional pure red cell anaemia	FLVCR1 HEATR3 RPL18 RPL35A RPL8	28982 55027 6132 6141 6165	Homo sapiens (human)	Alliance of Genome Resources

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