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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 **10801 - 10825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0080565	congenital disorder of glycosylation Im Aliases: DOLK-congenital disorder of glycosylation congenital disorder of glycosylation 1m dolichol kinase deficiency	DOLK	22845	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110668	congenital myasthenic syndrome 10 Aliases: CMS10 LGM congenital muscular dystrophy merosin-positive familial limb-girdle myasthenia	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111376	fetal akinesia deformation sequence syndrome 3 Aliases: FADS3	DOK7	285489	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080594	hyper IgE recurrent infection syndrome 2	DOCK8	81704	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090110	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Aliases: Autoimmune enteropathy type 1 DMSD IDDM-secretory diarrhea syndrome IPEX X-linked autoimmunity-allergic dysregulation syndrome XLAAD XPID autoimmunity-immunodeficiency syndrome, X-linked diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked immunodeficiency, polyendocrinopathy, and enteropathy, X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked	DOCK8	81704	Homo sapiens (human)	Alliance of Genome Resources
DOID:104	bacterial infectious disease	DOCK8 HLA-DQB1 HLA-DRB1 IL10 IL2 MAGT1 MBL2 RELA RELB SDC4 SLC35A2 TUSC3	3119 3123 3558 3586 4153 5970 5971 6385 7355 7991 81704 84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080415	developmental and epileptic encephalopathy 23 Aliases: DEE23 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome early infantile epileptic encephalopathy 23	DOCK7	85440	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070158	hereditary sensory neuropathy type 1E Aliases: HSN1E hereditary sensory neuropathy type IE	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050968	autosomal dominant cerebellar ataxia, deafness and narcolepsy	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:288	endometriosis of uterus Aliases: Endometriosis interna Endometriosis of myometrium Endometriosis, myometrium adenomyosis uterine Adenomyosis	DNMT1	1786	Homo sapiens (human)	Alliance of Genome Resources
DOID:8456	choline deficiency disease Aliases: choline deficiency	DNMT1 DNMT3L	1786 29947	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070354	cataract 48 Aliases: CTRCT48	DNMBP TIAM1 TIAM2	23268 26230 7074	Homo sapiens (human)	Alliance of Genome Resources
DOID:14717	centronuclear myopathy Aliases: myotubular myopathy	DNM2 MTM1 MTMR6 MTMR7 MTMR8	1785 4534 55613 9107 9108	Homo sapiens (human)	Alliance of Genome Resources
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111438	optic atrophy 5 Aliases: OPA5	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070347	encephalopathy due to defective mitochondrial and peroxisomal fission 1	DNM1L	10059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080437	developmental and epileptic encephalopathy 31A Aliases: DEE31 DEE31A developmental and epileptic encephalopathy 31 early infantile epileptic encephalopathy 31	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070376	developmental and epileptic encephalopathy 31B Aliases: DEE31B	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:1827	idiopathic generalized epilepsy Aliases: Generalised epilepsy	DNM1 GABRA1 HCN4 KCNMA1	10021 1759 2554 3778	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	DNM1 DNM2	1759 1785	Homo sapiens (human)	Alliance of Genome Resources
DOID:11252	microcytic anemia	DNM1 DNM2 TMPRSS6	164656 1759 1785	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111223	centronuclear myopathy 1 Aliases: CNM1	DNM1 DNM2 MTMR14	1759 1785 64419	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112354	spermatogenic failure 65 Aliases: SPGF65	DNHD1	144132	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111214	autosomal recessive distal hereditary motor neuronopathy 5 Aliases: DSMA5 autosomal recessive distal spinal muscular atrophy type 5 distal spinal muscular atrophy type 5 young adult-onset dHMN young adult-onset distal hereditary motor neuropathy	DNAJB2	3300	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111853	primary ciliary dyskinesia 40 Aliases: CILD40 primary ciliary dyskinesia 40 with or without situs inversus	DNAH9	1770	Homo sapiens (human)	Alliance of Genome Resources

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