GlyCosmos Portal

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

Displaying entries **6201 - 6225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110521	autosomal recessive nonsyndromic deafness 70 Aliases: DFNB70 autosomal recessive deafness 70	PNPT1	87178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081046	frontonasal dysplasia 2	ALX4	60529	Homo sapiens (human)	Alliance of Genome Resources
DOID:686	liver carcinoma Aliases: Liver and Intrahepatic bile duct carcinoma	ATP7B HRAS IL10 NRAS	3265 3586 4893 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111232	congenital muscular dystrophy-dystroglycanopathy type A9 Aliases: MDDGA9 Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9	DAG1	1605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome Aliases: AAMR alacrima, achalasia, and mental retardation syndrome	GMPPA	29926	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111729	familial episodic pain syndrome 1 Aliases: FEPS1	TRPA1	8989	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111605	distal arthrogryposis type 2A Aliases: DA2A distal arthrogryposis type 2A (Freeman-Sheldon)	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081181	autosomal recessive intellectual developmental disorder 5	NSUN2	54888	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110248	cataract 30 Aliases: CTRCT30 Dusty cataract cataract 30 pulverulent cataract Coppock-like	VIM	7431	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060931	developmental dysplasia of the hip 1 Aliases: DDH1	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	COL12A1 COL6A1 COL6A2 COL6A3	1291 1292 1293 1303	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110661	congenital myasthenic syndrome 20 Aliases: CMS20 congenital myasthenic syndrome 20 presynaptic	SLC5A7	60482	Homo sapiens (human)	Alliance of Genome Resources
DOID:14069	cerebral malaria Aliases: Malarial encephalitis	ACE2 NRG1	3084 59272	Homo sapiens (human)	Alliance of Genome Resources
DOID:409	liver disease Aliases: disorder of liver hepatic disorder	ALDH2 CPOX CYP2E1 DPYD FAS FASLG GLUL HFE HLA-DPB1 KDSR KRT18 MBL2 MDM2 PRKCSH SERPINA1 THBD TNF	1371 1571 1806 217 2531 2752 3077 3115 355 356 3875 4153 4193 5265 5589 7056 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060651	MYH-9 related disease	MYH9	4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080313	cleft palate-lateral synechia syndrome Aliases: CPLS syndrome syngnathia	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060646	congenital chylothorax	ELK3 ITGA9	2004 3680	Homo sapiens (human)	Alliance of Genome Resources
DOID:4724	brain edema Aliases: intracranial swelling wet brain	ABCC8 AQP1 AQP3 AQP4 AVPR1A C5 CACNA1B CP DMD F2 F2R GFAP ICAM1 KCNN4 MMP9 PLAT PLAU SCN3B SERPINE2 SERPINF1 SOD2 VEGFA	1356 1756 2147 2149 2670 3383 358 360 361 3783 4318 5176 5270 5327 5328 552 55800 6648 6833 727 7422 774	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	CDH2	1000	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language Aliases: MRD20 autosomal dominant mental retardation 20 mental retardation, autosomal dominant 20	MEF2C	4208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081368	Paget's disease of bone 5 Aliases: Familial osteoectasia Hereditary hyperphosphatasia Hyperostosis corticalis deformans juvenilis Juvenile Paget disease Paget disease of bone-5	TNFRSF11B	4982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110937	autosomal dominant osteopetrosis 1 Aliases: OPTA1 autosomal dominant osteopetrosis type 1	LRP5	4041	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110950	Waardenburg syndrome type 2A Aliases: WS2A Waardenburg syndrome type IIA	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:5117	dermoid cyst of ovary Aliases: Dermoid cyst Ovarian Dermoid Cyst	FOXO3	2309	Homo sapiens (human)	Alliance of Genome Resources
DOID:12918	thromboangiitis obliterans Aliases: Buerger's disease Presenile gangrene	AGER CRHR1 ELN HLA-A HLA-DRB1 LINC02210-CRHR1 VCAM1	104909134 1394 177 2006 3105 3123 7412	Homo sapiens (human)	Alliance of Genome Resources

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