GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **2976 - 3000** of **4115** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:1206	Rett syndrome Aliases: Rett's disorder cerebroatrophic hyperammonemia	CDKL5 MECP2	4204 6792	Homo sapiens (human)	Alliance of Genome Resources
DOID:1210	optic neuritis	AQP4 CAT HLA-DQB1 HLA-DRB1 MOG SOD2	3119 3123 361 4340 6648 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:12117	pulmonary alveolar microlithiasis	SLC34A2	10568	Homo sapiens (human)	Alliance of Genome Resources
DOID:12119	hemosiderosis Aliases: haemosiderosis	CP	1356	Homo sapiens (human)	Alliance of Genome Resources
DOID:12120	pulmonary alveolar proteinosis	ABCA3 CSF2 CSF2RA CSF2RB SFTPB SFTPC	1437 1438 1439 21 6439 6440	Homo sapiens (human)	Alliance of Genome Resources
DOID:12129	bulimia nervosa Aliases: hyperorexia nervosa	COMT	1312	Homo sapiens (human)	Alliance of Genome Resources
DOID:12132	granulomatosis with polyangiitis Aliases: Necrotizing respiratory granulomatosis Wegener granulomatosis, formerly	CCR5 CTLA4 FCAR IL10 VTN	1234 1493 2204 3586 7448	Homo sapiens (human)	Alliance of Genome Resources
DOID:12134	factor VIII deficiency Aliases: Congenital factor VIII disorder Hemophilia A Subhemophilia classic hemophilia classic hemophilia A	F2 F8 FCGR2A HLA-DQA1 IFNG IL10 PLAT TFPI TGFB1	2147 2157 2212 3117 3458 3586 5327 7035 7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:1214	tympanosclerosis	TLR4	7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:12140	Chagas disease Aliases: Chagas' disease chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement	CHRM2 HLA-DRB1 HSPA4 SOAT1	1129 3123 3308 6646	Homo sapiens (human)	Alliance of Genome Resources
DOID:12148	alveolar echinococcosis Aliases: Multilocular hydatid alveolococcosis small fox tapeworm	HLA-DQB1 HLA-DRB1	3119 3123	Homo sapiens (human)	Alliance of Genome Resources
DOID:12176	goiter Aliases: goitre	TG	7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:12177	common variable immunodeficiency Aliases: CVID acquired agammaglobulinemia acquired hypogammaglobulinemia common variable agammaglobulinemia sporadic hypogammaglobulinemia	DCLRE1C HLA-DQB1 IL21R MBL2	3119 4153 50615 64421	Homo sapiens (human)	Alliance of Genome Resources
DOID:12185	otosclerosis	AGT BMP2 BMP4 COL1A1 HLA-B	1277 183 3106 650 652	Homo sapiens (human)	Alliance of Genome Resources
DOID:12205	dengue disease Aliases: Dengue Fever breakbone fever classic dengue	CD209 F2 FCGR2A	2147 2212 30835	Homo sapiens (human)	Alliance of Genome Resources
DOID:12206	dengue hemorrhagic fever Aliases: DHF	CD209 FCGR2A IFNL1 KIR3DS1 SLC6A4	2212 282618 30835 3813 6532	Homo sapiens (human)	Alliance of Genome Resources
DOID:12217	Lewy body dementia Aliases: Dementia with Lewy bodies Diffuse Lewy body disease Lewy body disease Senile dementia of the Lewy body type	GBA1 IGF1R KLK6 NOS2 SNCA SNCB SNCG	2629 3480 4843 5653 6620 6622 6623	Homo sapiens (human)	Alliance of Genome Resources
DOID:1222	cartilage disease Aliases: Cartilage disorder Chondropathy	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:12236	primary biliary cholangitis Aliases: biliary liver cirrhosis cholestatic cirrhosis chronic nonsuppurative destructive cholangitis primary biliary cirrhosis	ABCB4 CTLA4 HLA-DQA1 IL12A LBR NUP62 STAT4 UTP4	1493 23636 3117 3592 3930 5244 6775 84916	Homo sapiens (human)	Alliance of Genome Resources
DOID:12241	beta thalassemia	BCL11A COL1A1 HBB HBS1L HFE HLA-DQB1 TNF	10767 1277 3043 3077 3119 53335 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:12253	testicular lymphoma Aliases: lymphoma of the testis malignant lymphoma of testis	MYD88	4615	Homo sapiens (human)	Alliance of Genome Resources
DOID:12259	hemophilia B Aliases: Congenital factor IX deficiency Congenital factor IX disorder deficiency, functional factor IX factor IX deficiency	F2 F9	2147 2158	Homo sapiens (human)	Alliance of Genome Resources
DOID:1227	neutropenia	AP3B1 C5 CSF2 CSF3 FCGR2A STAT2 TNF	1437 1440 2212 6773 7124 727 8546	Homo sapiens (human)	Alliance of Genome Resources
DOID:12270	coloboma Aliases: coloboma of eye coloboma of macula congenital ocular coloboma	SALL2 TMEM67	6297 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:12271	aniridia Aliases: Aplasia of iris isolated aniridia	ELP4	26610	Homo sapiens (human)	Alliance of Genome Resources

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