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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 **3476 - 3500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0070316	Miura type epiphyseal chondrodysplasia Aliases: ECDM tall stature-scoliosis-macrodactyly of the great toes syndrome tall stature-scoliosis-macrodactyly of the halluces syndrome	NPR2	4882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080050	acromesomelic dysplasia, Maroteaux type Aliases: acromesomelic dysplasia-1	NPR2	4882	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081141	agammaglobulinemia 9	Catsup	48805	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:11516	hypertensive heart disease	NPPB	4879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080663	atrial standstill 2	NPPA	4878	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080390	nephrotic syndrome type 1 Aliases: Finnish congenital nephrosis	CCL11 NPHS1	4868 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:5813	purine nucleoside phosphorylase deficiency Aliases: PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase	PNP	4860	Homo sapiens (human)	Alliance of Genome Resources
DOID:5241	hemangioblastoma Aliases: Capillary Hemangioblastoma	CXCR4 DLL4 NOTCH4	4855 54567 7852	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111343	lateral meningocele syndrome Aliases: Lehman syndrome	NOTCH3	4854	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111035	CADASIL 1 Aliases: autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1	NOTCH3	4854	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080109	infantile myofibromatosis Aliases: lipofibromatosis	NOTCH3 PDGFRB	4854 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:2736	Hajdu-Cheney syndrome Aliases: Cheney syndrome HJCYS SFPKS acroosteolysis with osteoporosis and changes in skull and mandible arthrodentoosteodysplasia serpentine fibula-polycystic kidney syndrome	NOTCH2	4853	Homo sapiens (human)	Alliance of Genome Resources
DOID:654	overnutrition	NOS3	4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:1272	telangiectasis Aliases: telangiectasia	NOS3	4846	Homo sapiens (human)	Alliance of Genome Resources
DOID:9220	central sleep apnea Aliases: primary central sleep apnea	NOS3 TACR1	4846 6869	Homo sapiens (human)	Alliance of Genome Resources
DOID:12638	hypertrophic pyloric stenosis Aliases: congenital hypertrophic pyloric stenosis congenital or infantile stricture of pylorus	NOS1	4842	Homo sapiens (human)	Alliance of Genome Resources
DOID:12935	alcoholic cardiomyopathy Aliases: Alcohol-induced heart muscle disease Dilated cardiomyopathy secondary to alcohol	NOS1 PPARG	4842 5468	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060817	syndromic X-linked intellectual disability 34 Aliases: MRXS34 MRXSML macrocephaly-intellectual disability-left ventricular non compaction syndrome mental retardation, X-linked, syndromic 34 syndromic X-linked mental retardation Mircsof-Langouet type	NONO	4841	Homo sapiens (human)	Alliance of Genome Resources
DOID:1919	Lesch-Nyhan syndrome Aliases: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency HG-PRT deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine-phosphoribosyltransferase deficiency Lesch - Nyhan syndrome X-linked hyperuricemia deficiency of IMP pyrophosphorylase hypoxanthine guanine phosphoribosyltransferase deficiency	Aprt	48224	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060350	adenine phosphoribosyltransferase deficiency Aliases: 2,8-dihydroxyadenine urolithiasis APRT deficiency	Aprt	48224	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0110272	cataract 40 Aliases: CTRCT40 cataract 40 X-linked cataract 40 with or without microcornea	NHS	4810	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060599	Nance-Horan syndrome	NHS	4810	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070145	hereditary sensory and autonomic neuropathy type 5 Aliases: HSAN5 hereditary sensory and autonomic neuropathy type V	NGF	4803	Homo sapiens (human)	Alliance of Genome Resources
DOID:10685	separation anxiety disorder	NGF	4803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080809	chronic asthma	NGF	4803	Homo sapiens (human)	Alliance of Genome Resources

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