GlyCosmos Portal

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

Displaying entries **5851 - 5875** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0081234	autosomal recessive intellectual developmental disorder 75	PIDD1	55367	Homo sapiens (human)	Alliance of Genome Resources
DOID:11263	chlamydia Aliases: Chlamydia trachomatis infectious disease Chlamydial Infection chlamydial disease	TGFB1	7040	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110814	hereditary spastic paraplegia 63 Aliases: SPG63 autosomal recessive spastic paraplegia 63 spastic paraplegia 63	AMPD2	271	Homo sapiens (human)	Alliance of Genome Resources
DOID:11569	neurocirculatory asthenia Aliases: Cardiovascular malfunction arising from mental factors Cardiovascular neurosis Da Costa's syndrome Krishaber's disease	SLC6A2	6530	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080998	acute necrotizing pancreatitis	BTG2 CALCA CCL2 CD46 CD59 CTSB ICAM1 IL17A IL1RN IL6 MIF MMP2 NOS1 NOS2 PDX1 RELA SELP SERPINE1 SERPINF2 SERPING1 TACR1 TBXAS1 TLR2 TLR4 TLR9	1508 3383 3557 3569 3605 3651 4179 4282 4313 4842 4843 5054 5345 54106 5970 6347 6403 6869 6916 7097 7099 710 7832 796 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111537	paroxysmal extreme pain disorder Aliases: PEPD PEXPD familial rectal pain submandibular, ocular and rectal pain with flushing	SCN9A	6335	Homo sapiens (human)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABCB11 ABCB1 ABCB4 ABCB5 ABCC12 ABCC4 ADRB1 ADRB2 ADRB3 AGER C5 CCL11 CCL2 CCR3 CD14 CD40LG CFTR CLCA1 CLCN2 CSF3R CXCR3 CYP1A1 EDEM1 EDN1 FAS FASLG FCGR2A GCLC HAVCR2 HFE HLA-G HSPA1A HSPD1 IGFBP3 IL13 IL17A IL18BP IL1A IL1RN IL6 IL9 IL9R LEP LTA MBL2 MIF MMP9 MPO MUC1 MUC2 MUC5AC MUC5B NOS1 NOS2 NOS3 PPARA PRSS1 PTGDR2 PTGS2 PTX3 SCNN1B SERPINA3 SFTPA1 SFTPB SFTPC SFTPD TGFB1 TIMP1 TLR4 TLR5 TLR9 TNF	10068 10257 1080 11251 1179 1181 12 1232 1441 153 154 1543 155 177 1906 2212 2729 2833 3077 3135 3303 3329 340273 3486 355 3552 3557 356 3569 3578 3581 3596 3605 3952 4049 4153 4282 4318 4353 4582 4583 4586 4842 4843 4846 5243 5244 54106 5465 5644 5743 5806 6338 6347 6356 6439 6440 6441 653509 7040 7076 7099 7100 7124 727 727897 84868 8647 929 94160 959 9695	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:0111596	distal arthrogryposis type 1 Aliases: DA1 digitotalar dysmorphism	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060563	Char syndrome	TFAP2B	7021	Homo sapiens (human)	Alliance of Genome Resources
DOID:2752	glycogen storage disease II Aliases: Generalized glycogenosis Glycogen storage disease 2 Glycogen storage disease, type II Glycogenosis, type 2 Lysosomal alpha-1,4-glucosidase deficiency Pompe's disease acid maltase deficiency deficiency of glucoamylase deficiency of maltase glycogen storage disease type II	GAA	2548	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111725	geleophysic dysplasia 1 Aliases: GPHYSD1	ADAMTSL2	9719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080282	developmental and epileptic encephalopathy 56 Aliases: DEE56 early infantile epileptic encephalopathy 56	YWHAG	7532	Homo sapiens (human)	Alliance of Genome Resources
DOID:12347	osteogenesis imperfecta Aliases: Lobstein's syndrome Osteopsathyrosis Vrolik's disease brittle bone disease	BMP1 CCDC134 COL1A1 COL1A2 PHLDB1 SMAD4 SMPD3	1277 1278 23187 4089 55512 649 79879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081289	Antley-Bixler syndrome Aliases: Antley Bixler syndrome Antley and Bixler's syndrome	FGFR2	2263	Homo sapiens (human)	Alliance of Genome Resources
DOID:9540	vascular skin disease	AGER	177	Homo sapiens (human)	Alliance of Genome Resources
DOID:10241	thalassemia Aliases: Sickle-cell thalassemia with crisis Sickle-cell thalassemia without crisis thalassemia Hb-S disease with crisis thalassemia Hb-S disease without crisis	PPP1R15A TNF	23645 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081156	common variable immunodeficiency 14	IRF2BP2	359948	Homo sapiens (human)	Alliance of Genome Resources
DOID:4682	extrahepatic bile duct carcinoma Aliases: carcinoma of extrahepatic bile duct extrahepatic bile duct cancer	XPO1	7514	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:0080609	anterior segment dysgenesis 4	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110168	Charcot-Marie-Tooth disease type 2Y Aliases: CMT2 due to VCP mutation CMT2Y Charcot-Marie-Tooth neuropathy type 2Y autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation autosomal dominant axonal Charcot-Marie-Tooth type 2Y	VCP	7415	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060870	isolated growth hormone deficiency Aliases: IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency non-acquired isolated growth hormone deficiency	GH2 GHR GHRHR GHSR IGFALS TG	2689 2690 2692 2693 3483 7038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	NANS	54187	Homo sapiens (human)	Alliance of Genome Resources

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