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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 **11451 - 11475** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0070068	autosomal dominant intellectual developmental disorder 38 Aliases: MRD38 PRELDS autosomal dominant mental retardation 38 autosomal dominant non-syndromic intellectual disability 38 psychomotor retardation, epilepsy, and language disability syndrome	EEF1A2	1917	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111069	congenital bile acid synthesis defect 2 Aliases: CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency	AKR1D1	6718	Homo sapiens (human)	Alliance of Genome Resources
DOID:1926	Gaucher's disease Aliases: Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis	GBA1 PKLR TNF	2629 5313 7124	Homo sapiens (human)	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111257	gamma-glutamyl transpeptidase deficiency Aliases: GGT deficiency GGT1 deficiency GTG deficiency gamma-glutamyl transferase deficiency glutathionuria	GGT1	2678	Homo sapiens (human)	Alliance of Genome Resources
DOID:7725	epilepsy with generalized tonic-clonic seizures Aliases: Epileptic seizures, tonic-clonic Grand Mal epilepsy tonic-clonic epilepsy	GABRA1 LGI1 LIG1	2554 3978 9211	Homo sapiens (human)	Alliance of Genome Resources
DOID:3078	anaplastic astrocytoma Aliases: grade III Astrocytic tumor grade III astrocytoma	KRAS POLE	3845 5426	Homo sapiens (human)	Alliance of Genome Resources
DOID:3587	pancreatic ductal carcinoma Aliases: malignant neoplasm of duct of Wirsung pancreatic duct cancer	ACE2 ACE ADAM8 ADAM9 ALB ANXA2 ANXA5 BMI1 CALR CCKAR CCKBR CD40 DNMT1 EGF FASLG FSCN1 HDAC1 HEATR1 IGF1R IL4 IL4R INS KDM2B KRT7 L1CAM MCM7 MDM2 MET MGMT MMP2 MMP9 MSLN MUC1 MUC3A MUC4 MUC5AC MUC5B NME1 NTRK3 PALLD PMS1 PPARG RNF2 SERPINA1 SMAD4 SMO TGFB1 TGFBR2 THBS1 TMPRSS3 TSC2 TYMP	101 10232 1636 1786 1890 1950 213 23022 302 3065 308 3480 356 3565 3566 3630 3855 3897 4089 4176 4193 4233 4255 4313 4318 4582 4584 4585 4586 4830 4916 5265 5378 5468 55127 59272 6045 64699 648 6608 6624 7040 7048 7057 7249 727897 811 84678 8754 886 887 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110680	congenital myasthenic syndrome 2C Aliases: CMS2C congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency	CHRNB1	1140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080721	calvarial doughnut lesions with bone fragility	SGMS2	166929	Homo sapiens (human)	Alliance of Genome Resources
DOID:2581	chondrodysplasia punctata Aliases: Chondrodysplasia punctata congenita	ARSL EBP MSMO1	10682 415 6307	Homo sapiens (human)	Alliance of Genome Resources
DOID:1388	Tangier disease Aliases: familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency	ABCA1	19	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060486	Perry syndrome Aliases: parkinsonism with alveolar hypoventilation and mental depression	DCTN1	1639	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090088	hypogonadotropic hypogonadism 24 without anosmia Aliases: isolated follicle-stimulating hormone deficiency	FSHB	2488	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070511	polyhydramnios, megalencephaly, and symptomatic epilepsy Aliases: PMSE PMSE syndrome Pretzel syndrome	STRADA	92335	Homo sapiens (human)	Alliance of Genome Resources
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:854	collagen disease Aliases: collagen disorder	COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 DNM1 DNM2 TLR4 TLR5	1282 1285 1286 1287 1288 1759 1785 7099 7100	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O Aliases: LGMD2O MDDGC3 muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related	POMGNT1	55624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080195	Marinesco-Sjogren syndrome Aliases: Garland-Moorhouse syndrome Marinesco-Garland syndrome Oligophrenic cerebellolenticular degeneration hereditary oligophrenic cerebello-lental degeneration	SIL1	64374	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090059	enhanced S-cone syndrome	NR2E3	10002	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111683	neurofibromatosis-Noonan syndrome Aliases: NFNS Noonan neurofibromatosis syndrome neurofibromatosis type 1-Noonan syndrome neurofibromatosis with Noonan phenotype	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:14687	diastrophic dysplasia	SLC26A2	1836	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080326	familial hypertrophic cardiomyopathy	ALPK3 CORIN FHOD3 MYBPC3 MYH15 MYH1 MYH7 MYL9	10398 10699 22989 4607 4619 4625 57538 80206	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081147	common variable immunodeficiency 4	TNFRSF13C	115650	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111717	isolated cryptophthalmia Aliases: CRYPTOP unilateral or bilateral isolated cryptophthalmos	FREM2	341640	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050200	Korean hemorrhagic fever	IL2RA	3559	Homo sapiens (human)	Alliance of Genome Resources

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