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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 **2276 - 2300** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▼
DOID:0111296	generalized epilepsy with febrile seizures plus 10 Aliases: GEFS+10 GEFSP10 generalised epilepsy with febrile seizures plus 10 generalised epilepsy with febrile seizures plus type 10 generalized epilepsy with febrile seizures plus type 10	HCN1	348980	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111294	generalized epilepsy with febrile seizures plus 2 Aliases: GEFS+2 GEFSP2 generalised epilepsy with febrile seizures plus 2 generalised epilepsy with febrile seizures plus type 2 generalized epilepsy with febrile seizures plus type 2	SCN10A SCN11A SCN1A SCN2A SCN3A SCN4A SCN5A SCN7A SCN8A SCN9A	11280 6323 6326 6328 6329 6331 6332 6334 6335 6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111292	idiopathic generalized epilepsy 10 Aliases: EIG10	GABRD	2563	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111287	psoriasis 13 Aliases: PSORS13	TRAF3IP2	10758	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111286	psoriasis 1 Aliases: PSORS1	HLA-C	3107	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111279	psoriasis 7 Aliases: PSORS7	IL23R	149233	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111278	histiocytosis-lymphadenopathy plus syndrome Aliases: Faisalabad histiocytosis H syndrome HJCD PHID Rosai–Dorfman disease SHML cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss familial Rosai-Dorfman disease histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness histiocytosis with joint contractures and sensorineural deafness pigmented hypertrichosis with insulin-dependent diabetes mellitus sinus histiocytosis and massive lymphadenopathy	SLC29A3	55315	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111277	mitochondrial trifunctional protein deficiency Aliases: MTPD TFP deficiency TFPD	HADHA HADHB	3030 3032	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111275	speech-language disorder-1 Aliases: CAS articulatory apraxia childhood apraxia of speech developmental apraxia of speech developmental verbal dyspraxia speech and language disorder with orofacial dyspraxia speech-language disorder type 1	FOXP2	93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111274	CODAS syndrome Aliases: cerebral, ocular, dental, auricular, and skeletal syndrome cerebro-oculo-dento-auriculo-skeletal syndrome	LONP1	9361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111272	occipital horn syndrome Aliases: EDS IX Ehlers-Danlos syndrome type 9 Ehlers-Danlos syndrome type IX X-linked cutis laxa	ATP7A ATP7B	538 540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111271	Oliver-McFarlane syndrome Aliases: OMCS eyelashes long mental retardation long eyelashes-intellectual disability syndrome trichomegaly-retina pigmentary degeneration-dwarfism syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111269	autosomal dominant hyaline body myopathy Aliases: MSMA Myopathy, myosin storage, autosomal dominant congenital myopathy 7A myopathy with lysis of type I myofibrils	MYH15 MYH1 MYH7	22989 4619 4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111268	autosomal recessive hyaline body myopathy Aliases: MSMB Myopathy, myosin storage, autosomal recessive congenital myopathy 7B	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111263	combined malonic and methylmalonic acidemia Aliases: CMAMMA combined malonic and methylmalonic aciduria	ACSF3	197322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111261	fumarase deficiency Aliases: FMRD fumaric aciduria	FH	2271	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity Aliases: PRPP synthetase superactivity PRPS1 superactivity	PRPS1	5631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)	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:0111254	glutaric acidemia I Aliases: GA1 glutaric academia type 1 glutaric aciduria 1 glutaric aciduria type I glutaryl-coA dehydrogenase deficiency glutaryl-coenzyme A dehydrogenase deficiency	GCDH	2639	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111253	neurofibromatosis 1 Aliases: NF1 Peripheral Neurofibromatosis Recklinghausen's neurofibromatosis neurofibromatosis type I von Recklinghausen Disease	NF1 VEGFA	4763 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	SMARCB1 VEGFA	6598 7422	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111249	uveal coloboma-cleft lip and palate-intellectual disability Aliases: COB1 Uveal coloboma-cleft lip/palate-mental retardation syndrome coloboma-microphthalmos syndrome coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation	YAP1	10413	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111248	cerebrocostomandibular syndrome Aliases: CCM syndrome CCMS cerebro-costo-mandibular syndrome rib gap defects with micrognathia	SNRPB	6628	Homo sapiens (human)	Alliance of Genome Resources

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