GlyCosmos Portal

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

Displaying entries **5326 - 5350** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060931	developmental dysplasia of the hip 1 Aliases: DDH1	GDF5	8200	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: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:0110950	Waardenburg syndrome type 2A Aliases: WS2A Waardenburg syndrome type IIA	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080687	reducing body myopathy 1B	FHL1	2273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080788	proximal symphalangism 2	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110796	hereditary spastic paraplegia 44 Aliases: SPG44 autosomal recessive spastic paraplegia 44	GJC2	57165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050523	adult T-cell leukemia/lymphoma Aliases: Adult T-cell leukemia/lymphoma (HTLV-1 positive) adult T-cell leukemia	CD163 CD274 CD68 CD80 CD86 FAS IL10 IL5 IL6 JAK3 NOTCH1	29126 355 3567 3569 3586 3718 4851 9332 941 942 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060582	Noonan syndrome 4 Aliases: NS4	SOS1	6654	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111462	cardiofaciocutaneous syndrome 3 Aliases: CFC3	MAP2K1	5604	Homo sapiens (human)	Alliance of Genome Resources
DOID:11996	spermatic cord torsion Aliases: Torsion of testicle Torsion of testis testicular Torsion	GPX3	2878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy Aliases: cone-rod retinal dystrophy	CRB1 EYS	23418 346007	Homo sapiens (human)	Alliance of Genome Resources
DOID:14735	hereditary angioedema Aliases: HANE Hereditary angioneurotic edema	ANGPT1 F12 F2 F7 HS3ST6 KNG1 MYOF PLG SERPING1	2147 2155 2161 26509 284 3827 5340 64711 710	Homo sapiens (human)	Alliance of Genome Resources
DOID:1210	optic neuritis	AQP4 CAT CCR5 HLA-DQB1 HLA-DRB1 MOG NEFH SOD2	1234 3119 3123 361 4340 4744 6648 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080324	tuberous sclerosis 1	TSC1	7248	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070268	congenital disorder of glycosylation type IIp Aliases: CDG IIp CDG syndrome type IIp CDG2P CDGIIdp Carbohydrate deficient glycoprotein syndrome type IIp Congenital disorder of glycosylation type 2p TMEM199-CDG	TMEM199	147007	Homo sapiens (human)	Alliance of Genome Resources
DOID:3275	thymoma	AQP4	361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111503	Li-Fraumeni syndrome 1 Aliases: LFS1	TP53	7157	Homo sapiens (human)	Alliance of Genome Resources
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:3717	gastric adenocarcinoma Aliases: adenocarcinoma of stomach stomach adenocarcinoma	ABCA13 ALX4 AMIGO2 APOC3 ARID1A CAT CD44 CDK12 GPX1 HLA-DQA1 HNRNPA0 IL6 KMT2D MAP2K4 MAPK14 PLCE1 POLE PTPN13 PTPRA PTPRZ1 RAC1 RNASET2 RNF43 SLC7A5 STAT1 STAT5A STAT5B STAT6 TP53 UBR5 XPO1	10949 1432 154664 2876 3117 345 347902 3569 51196 51366 51755 5426 54894 5783 5786 5803 5879 60529 6416 6772 6776 6777 6778 7157 7514 8085 8140 8289 847 8635 960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080695	Burn-McKeown syndrome Aliases: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome	TXNL4A	10907	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050175	tick-borne encephalitis Aliases: Central European encephalitis Far Eastern TBE Russian spring-summer encephalitis Siberian tick-borne encephalitis Taiga encephalitis Western European tick-borne encephalitis west-Siberian encephalitis	CD40 CD40LG	958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080599	Coronavirus infectious disease	ACE CCR1 CCR2 CCR5 CD209 EGFR MBL2 MUC4 MYD88 SERPINE1 SFTPD	1230 1234 1636 1956 30835 4153 4585 4615 5054 6441 729230	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070040	autosomal dominant intellectual developmental disorder 10 Aliases: MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10	CACNG2	10369	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060712	autosomal recessive congenital ichthyosis 4A Aliases: ARCI4A ICR2B ichthyosis congenita IIB lamellar ichthyosis 2	ABCA12	26154	Homo sapiens (human)	Alliance of Genome Resources

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