GlyCosmos Portal

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

Displaying entries **5001 - 5025** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:1019	osteomyelitis	HLA-DQB1	3119	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112312	male infertility due to globozoospermia Aliases: globozoospermia syndrome	HSP90B1	7184	Homo sapiens (human)	Alliance of Genome Resources
DOID:9733	renal tuberculosis Aliases: Tuberculosis of kidney	IL4R	3566	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050432	Asperger syndrome	SLC25A12	8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:2058	chronic mucocutaneous candidiasis	CLEC7A IL17F IL17RC TRAF3IP2	10758 112744 64581 84818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia Aliases: spondyloperipheral dysplasia-short ulna syndrome	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	CA9 CCL5 CCR3 CCR5 CD68 CTLA4 CTNNB1 CYP27B1 DOCK8 EFTUD2 EIF2AK2 FAS FASLG HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 IFNA2 IFNAR2 IFNGR1 IL10 IL10RB IL2 IL2RB IL4 IL6 KIR3DS1 MAP4K4 MBL2 MPL MYD88 PDCD1 PLAU PLAUR PREX2 SAMHD1 TLR3 TLR9 TNF TREM1 UGT1A1 UGT1A6 XRCC1	1232 1234 1493 1499 1594 25939 3113 3115 3117 3119 3440 3455 3459 355 3558 356 3560 3565 3569 3586 3588 3813 4153 4352 4615 5133 5328 5329 54106 54210 54578 54658 5610 6352 7098 7124 7515 768 80243 81704 9343 9448 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050788	proximal symphalangism Aliases: Cushing's symphalangism	NOG	9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111151	Prinzmetal angina Aliases: Prinzmetal's angina Prinzmetal's variant angina angina inversa variant angina variant angina pectoris	ICAM1	3383	Homo sapiens (human)	Alliance of Genome Resources
DOID:8476	Whipple disease Aliases: Whipple's disease intestinal lipodystrophy	CD163	9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050696	fetal alcohol spectrum disorder	CRHR1 DNMT1 DRD2 EHMT2 GABRB3 GABRG2 GRIN2B HDAC2 HDAC4 HSD11B2 IGF1R LINC02210-CRHR1 MAT2A MECP2 MTR NR3C1 NR3C2 OPRK1 OPRL1 PER2 POMC PRL PTEN RASGRF1 SETD7 SLC25A12 SLC6A4 UBE3A	104909134 10919 1394 1786 1813 2562 2566 2904 2908 3066 3291 3480 4144 4204 4306 4548 4986 4987 5443 5617 5728 5923 6532 7337 80854 8604 8864 9759	Homo sapiens (human)	Alliance of Genome Resources
DOID:12803	Sly syndrome Aliases: MPS VII - Sly syndrome beta-glucuronidase deficiency deficiency of beta-glucuronidase mucopolysaccharidosis VII	GUSB	2990	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	DAXX MGMT PGF	1616 4255 5228	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081074	Teebi hypertelorism syndrome 2	CDH11	1009	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110860	polycystic kidney disease 3 Aliases: Apkd3 Pkd3 Polycystic Kidney Disease, Adult, Type III	GANAB	23193	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	SMARCB1 VEGFA	6598 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050453	lissencephaly	ARX CDK15 CDK5 CDK5R2 DAG1 DYNC1H1 NOS1 NOS2 NOS3 PAFAH1B1 POMGNT1 POMT1 POMT2 TUBA1A TUBA1B TUBA1C TUBA4A WDR75	1020 10376 10585 1605 170302 1778 29954 4842 4843 4846 5048 55624 65061 7277 7846 84128 84790 8941	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111468	combined oxidative phosphorylation deficiency 25 Aliases: COXPD25	MARS2	92935	Homo sapiens (human)	Alliance of Genome Resources
DOID:12721	multiple epiphyseal dysplasia Aliases: polyepiphyseal dysplasia	COMP	1311	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080428	developmental and epileptic encephalopathy 45 Aliases: DEE45 early infantile epileptic encephalopathy 45	GABRB1	2560	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111556	steatocystoma multiplex Aliases: multiple sebaceous cysts sebocystomatosis	KRT17	3872	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070235	Loeys-Dietz syndrome 1 Aliases: AAT5 Furlong syndrome LDS1 familial throacic aortic aneurysm 5	TGFBR1	7046	Homo sapiens (human)	Alliance of Genome Resources
DOID:3355	fibrosarcoma Aliases: Fibrocytic tumor fibrosarcoma of soft tissue fibrous tissue neoplasm	CDC42 TNFRSF1A	7132 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:4661	multiple chemical sensitivity Aliases: 20th century disease chemical AIDS environmental illness idiopathic environmental illness total allergy syndrome	CYP2C19	1557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050763	ARC syndrome Aliases: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis	VIPAS39 VPS33B	26276 63894	Homo sapiens (human)	Alliance of Genome Resources

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