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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 **7926 - 7950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0060717	autosomal recessive congenital ichthyosis 8 Aliases: ARCI8 lamellar ichthyosis 4 late-onset lamellar ichthyosis	LIPN	643418	Homo sapiens (human)	Alliance of Genome Resources
DOID:11830	myopia Aliases: near vision near-sightedness short-sightedness	ADORA2A COL2A1 HGF LAMA2 LOXL3 LRP2 LRPAP1 LUM MMP2 P4HA2 PRIMPOL SLC39A5 ZNF644	1280 135 201973 283375 3082 3908 4036 4043 4060 4313 84146 84695 8974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112383	KINSSHIP syndrome Aliases: AFF3-related mesomelic dysplasia KINS Steichen-Gersdorf type mesomelic dysplasia	AFF3	3899	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111538	paramyotonia congenita of Von Eulenburg Aliases: Eulenburg disease PMC Von Eulenburg paramyotonia congenita myotonia congenita intermittens paralysis periodica paramyotonica paramyotonia congenita	SCN4A	6329	Homo sapiens (human)	Alliance of Genome Resources
DOID:4251	conjunctival disease	CLU IL6 TNFAIP6	1191 3569 7130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111799	syndromic microphthalmia 1 Aliases: Lenz dysplasia Lenz microphthalmia Lenz type microphthalmia MCOPS1	BCOR	54880	Homo sapiens (human)	Alliance of Genome Resources
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	GP1BA GP1BB GP9 VWF	2811 2812 2815 7450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111183	familial hemiplegic migraine 3 Aliases: FHM3 MHP3	SCN1A	6323	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111527	spinal muscular atrophy with progressive myoclonic epilepsy Aliases: Jankovic-Rivera syndrome SMA-PME SMAPME hereditary myoclonus-progressive distal muscular atrophy syndrome	ASAH1	427	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2 Aliases: MDDGA2 Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2	POMT2	29954	Homo sapiens (human)	Alliance of Genome Resources
DOID:14453	farmer's lung Aliases: Farmers lung farmer lung	TNF	7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:11847	coronary thrombosis Aliases: Coronary artery thrombosis	GP6	51206	Homo sapiens (human)	Alliance of Genome Resources
DOID:3904	bronchus carcinoma Aliases: BC - Bronchogenic carcinoma	ICAM1 IL10 IL1RN	3383 3557 3586	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111043	glycogen storage disease IXc Aliases: GSD type 9C GSD type IXc GSD9C glycogen storage disease type 9C glycogen storage disease type IXc glycogenosis type 9C glycogenosis type IXc	PHKG2	5261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111913	spermatogenic failure 30 Aliases: SPGF30	TDRD9	122402	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080272	nephrotic syndrome type 16	KANK2	25959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060894	early-onset Parkinson's disease Aliases: early-onset Parkinson disease	PARK7 PINK1 SYNJ1 SYNJ2	11315 65018 8867 8871	Homo sapiens (human)	Alliance of Genome Resources
DOID:9669	senile cataract	ATM CAT CDKN1B HSPA1B MT2A OGG1 SIRT1 XRCC1	1027 23411 3304 4502 472 4968 7515 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060756	sclerosteosis 1 Aliases: SOST1	SOST	50964	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111070	congenital bile acid synthesis defect 3 Aliases: CBAS3 oxysterol 7-alpha-hydroxylase deficiency	CYP7B1	9420	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080122	Alpers-Huttenlocher syndrome Aliases: Alper's syndrome Alpers disease Alpers progressive infantile poliodystrophy Alpers syndrome Alpers' disease or gray-matter degeneration Diffuse Cerebral Sclerosis of Schilder mitochondrial DNA depletion syndrome 4a progressive sclerosing poliodystrophy	AQP4	361	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111452	progressive myoclonus epilepsy 1A Aliases: EPM1A	CSTB	1476	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110880	holoprosencephaly 4 Aliases: HPE4	TGIF1	7050	Homo sapiens (human)	Alliance of Genome Resources
DOID:7400	Nijmegen breakage syndrome Aliases: Berlin breakage syndrome Microcephaly, normal intelligence and immunodeficiency NBS Seemanova syndrome II Seemanova syndrome type 2 ataxia-telangiectasia variant immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome	NBN	4683	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112155	inflammatory bowel disease 29 Aliases: IBD29	INAVA	55765	Homo sapiens (human)	Alliance of Genome Resources

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