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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

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

Displaying entries **3951 - 3975** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110861	autosomal recessive polycystic kidney disease Aliases: Arpkd Pkhd1 Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1	ACE AKT1 AQP1 ARL3 BICC1 C3 CD14 CDC25A CFTR CYP4A11 CYP4A22 ELN GPBAR1 MTOR NEK1 PANX1 PIK3CA PKD1 PKHD1 SLC4A2 TMEM67 TSC1	1080 151306 1579 1636 2006 207 24145 2475 284541 358 403 4750 5290 5310 5314 6522 718 7248 80114 91147 929 993	Homo sapiens (human)	Alliance of Genome Resources
DOID:12297	Vogt-Koyanagi-Harada disease Aliases: Harada's disease Vogt-Koyanagi syndrome uveomeningoencephalitic syndrome	HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG ITGB2 STAT4 TNF	3117 3119 3123 3458 3689 6775 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:9649	congenital nystagmus	AHR MYO7A ROBO1	196 4647 6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	AKT2	208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080197	congenital muscular dystrophy with cataracts and intellectual disability	INPP5K	51763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111765	X-linked cardiac valvular dysplasia Aliases: CVD1 Dystrophie valvulaire associee a FLNA EDS 5 Ehlers-Danlos syndrome, type 5 FLNA-related X-linked myxomatous valvular dysplasia FLNA-related valvular dystrophy Filamin A-related X-linked myxomatous valvular dysplasia XMVD	FLNA	2316	Homo sapiens (human)	Alliance of Genome Resources
DOID:11249	vitamin K deficiency bleeding Aliases: deficiency of vitamin K vitamin K deficiency vitamin K deficiency hemorrhagic disease	GGCX	2677	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060348	hypoparathyroidism-retardation-dysmorphism syndrome Aliases: HRD syndrome Sanjad-Sakati syndrome hypoparathyroidism with short stature, mental retardation and seizures	GATA3 TBCE	2625 6905	Homo sapiens (human)	Alliance of Genome Resources
DOID:13375	temporal arteritis Aliases: Horton's disease giant cell arteritis	CCL2 CHI3L1 CSF2 DLL1 ELN FCGR2A FCGR3A HLA-DRB1 IFNG IL17A IL21R IL4 JAG1 MBL2 MFGE8 MMP2 MMP9 TLR4	1116 1437 182 2006 2212 2214 28514 3123 3458 3565 3605 4153 4240 4313 4318 50615 6347 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060197	amyotrophic lateral sclerosis type 5 Aliases: ALS5 amyotrophic lateral sclerosis 5	SPG11	80208	Homo sapiens (human)	Alliance of Genome Resources
DOID:9953	acute biphenotypic leukemia Aliases: mixed phenotype acute leukemia	DOT1L	84444	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060020	reticular dysgenesis Aliases: De Vaal disease	AK2	204	Homo sapiens (human)	Alliance of Genome Resources
DOID:3247	rhabdomyosarcoma	ANGPT2 CAD	285 790	Homo sapiens (human)	Alliance of Genome Resources
DOID:898	autosomal dominant polycystic kidney disease Aliases: ADPKD Congenital biliary ectasias POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1	ANGPT2 BICC1 C9 CD14 CFB EDN1 FLNC FOS GFER GPBAR1 IL1RN ITGA8 LATS1 LCN2 LRP2 LRP5 MMP1 MMP9 MTOR MYC NPHP3 PITX2 PKD1 PKD2 PKD2L1 PKD2L2 RPS6KB1 SERPING1 SLC34A1 SPP1 STAT6	151306 1906 2318 2353 2475 2671 27031 27039 285 3557 3934 4036 4041 4312 4318 4609 5308 5310 5311 6198 629 6569 6696 6778 710 735 80114 8516 9033 9113 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080950	alopecia-mental retardation syndrome 4	LSS	4047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080336	mitochondrial DNA depletion syndrome 14	OPA1	4976	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110808	hereditary spastic paraplegia 56 Aliases: SPG56 autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56	CYP2U1	113612	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080804	cranioectodermal dysplasia 2	WDR35	57539	Homo sapiens (human)	Alliance of Genome Resources
DOID:4586	familial meningioma	MN1 PDGFB PTEN SMARCE1	4330 5155 5728 6605	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2 Aliases: AMC neurogenic type AMC2 AMCN arthrogryposis multiplex congenita 2, neurogenic type arthrogryposis multiplex congenita neurogenic type	ERGIC1	57222	Homo sapiens (human)	Alliance of Genome Resources
DOID:14499	Fabry disease Aliases: Alpha-galactosidase A deficiency Angiokeratoma Corporis Diffusum Fabry Disease, Cardiac Variant Fabry's disease alpha galactosidase deficiency deficiency of melibiase	ACE AGT GLA IL1A NAGA	1636 183 2717 3552 4668	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080349	developmental and epileptic encephalopathy 39 Aliases: AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination	SLC25A12	8604	Homo sapiens (human)	Alliance of Genome Resources
DOID:4780	anti-basement membrane glomerulonephritis Aliases: anti-GBM glomerulonephritis	AGT AGTR1 BAX CCL2 CCL5 CD40LG CD80 CLU CSF1 CSF1R CTLA4 CX3CL1 FCGR3A HLA-DPB1 HLA-DRB1 IL10 IL17A IL1RN IL4 ITGA4 MAPK14 MIF MMP12 MMP14 NOS2 PDCD1 SELP SLIT2 SYK TNF	1191 1432 1435 1436 1493 183 185 2214 3115 3123 3557 3565 3586 3605 3676 4282 4321 4323 4843 5133 581 6347 6352 6376 6403 6850 7124 9353 941 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:13910	red color blindness Aliases: Protan defect Protanopia	OPN1LW	5956	Homo sapiens (human)	Alliance of Genome Resources

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