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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 **8176 - 8200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	ND5	4540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080735	Ehlers-Danlos syndrome kyphoscoliotic type 2	FKBP14	55033	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111448	progressive myoclonus epilepsy 1B Aliases: EPM1B	PRICKLE1	144165	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111664	ectodermal dysplasia 1 Aliases: CST syndrome Christ-Siemens-Touraine syndrome ED1 HED1 X-linked anhidrotic ectodermal dysplasia XHED XLHED ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked hypohidrotic ectodermal dysplasia, X-Linked	EDA	1896	Homo sapiens (human)	Alliance of Genome Resources
DOID:3613	Canavan disease Aliases: ACY2 DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY ASPA DEFICIENCY ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE Spongy degeneration of central nervous system	SOD2	6648	Homo sapiens (human)	Alliance of Genome Resources
DOID:10825	essential hypertension Aliases: idiopathic hypertension primary hypertension	ACSM3 ADD1 AGTR1 ATP1B1 CAT CDK7 CYP3A5 ECE1 ELN FGFR2 FTO HAVCR1 HSD11B1 LCN2 NOS3 NPPB NPR2 PTGIS PTPN1 RARRES2 RBP4 REN SLC12A3	1022 118 1577 185 1889 2006 2263 26762 3290 3934 481 4846 4879 4882 5740 5770 5919 5950 5972 6296 6559 79068 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060766	autosomal dominant Robinow syndrome 1 Aliases: DRS1	WNT5A	7474	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	ADPRS BPHL PARG	54936 670 8505	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060731	congenital central hypoventilation syndrome Aliases: CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome	BDNF	627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060651	MYH-9 related disease	MYH9	4627	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111020	cone-rod dystrophy 9 Aliases: CORD9	ADAM9	8754	Homo sapiens (human)	Alliance of Genome Resources
DOID:10608	celiac disease Aliases: celiac sprue coeliac disease idiopathic steatorrhea	CD14 CTLA4 F2 HLA-DQA1 HLA-DQB1 HLA-DRB1 ICOS IFNG IL10 IL21 IL23R IL6 PON1 PON3	149233 1493 2147 29851 3117 3119 3123 3458 3569 3586 5444 5446 59067 929	Homo sapiens (human)	Alliance of Genome Resources
DOID:6195	conjunctivitis	C3 CFB MMP2 PLG PTAFR	4313 5340 5724 629 718	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060178	familial hemiplegic migraine	ATP1A1 ATP1A2 CACNA1A	476 477 773	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081339	congenital myopathy 2B	ACTA1	58	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112228	lissencephaly 9 with complex brainstem malformation Aliases: LIS9 posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	MACF1	23499	Homo sapiens (human)	Alliance of Genome Resources
DOID:3529	congenital myopathy 1A Aliases: central core disease central core myopathy	RYR1 RYR2 RYR3	6261 6262 6263	Homo sapiens (human)	Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	CLOCK GHRHR IGF1R INSR INSRR NF1 NPSR1 TFAP2B	2692 3480 3643 3645 387129 4763 7021 9575	Homo sapiens (human)	Alliance of Genome Resources
DOID:11870	Pick's disease Aliases: Dementia in Pick's disease LOBAR ATROPHY OF BRAIN PICK DISEASE OF BRAIN Pick disease	ATF2 CREB1 FOS MAP2K6 MAPT SNCA SNCB TARDBP	1385 1386 23435 2353 4137 5608 6620 6622	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060290	Ohdo syndrome, SBBYS variant Aliases: Say-Barber-Biesecker-Young-Simpson syndrome blepharophimosis-intellectual disability syndrome, SBBYS type	KAT6B	23522	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:0110556	autosomal dominant nonsyndromic deafness 27 Aliases: DFNA27 autosomal dominant deafness 27	REST	5978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110488	autosomal recessive nonsyndromic deafness 3 Aliases: DFNB3 NRSD3 autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3	MYO15A	51168	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112012	X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques Aliases: OLMSX X-linked Olmsted syndrome	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060822	syndromic X-linked intellectual disability Cabezas type Aliases: Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type)	CUL4B	8450	Homo sapiens (human)	Alliance of Genome Resources

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