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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 **2301 - 2325** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source ▲
DOID:0111155	autosomal recessive spinocerebellar ataxia 21 Aliases: SCAR21 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive spinocerebellar ataxia 21 with hepatopathy	SCYL1	57410	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	DPY19L2	283417	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111160	camptodactyly-tall stature-scoliosis-hearing loss syndrome Aliases: CATSHL syndrome	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111161	Crouzon syndrome-acanthosis nigricans syndrome Aliases: CAN Crouzon-dermoskeletal syndrome Crouzonodermoskeletal syndrome	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111162	epidermal nevus Aliases: nonepidermolytic keratinocytic nevus	FGFR3 HRAS NRAS PIK3CA	2261 3265 4893 5290	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111166	molybdenum cofactor deficiency type C Aliases: MOCOD type C MOCODC combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C molybdenum cofactor deficiency complementation group C	GPHN	10243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111167	Dyggve-Melchior-Clausen disease Aliases: DMC disease pseudo-Morquio disease type I	DYM RAB8B	51762 54808	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111169	subcortical band heterotopia Aliases: HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia	WDR75	84128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111180	French Canadian Leigh disease Aliases: French Canadian type COX deficiency French Canadian type Leigh syndrome French Canadian type cytochrome c oxidase deficiency Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5	LRPPRC	10128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111181	familial hemiplegic migraine 1 Aliases: FHM1 MHP1 familial hemiplegic migraine1 with progressive cerebellar ataxia	CACNA1A CACNA1B CACNA1E	773 774 777	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111182	familial hemiplegic migraine 2 Aliases: FHM2 Familial hemiplegic migraine-2 MHP2	ATP1A2	477	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:0111186	myopathy, lactic acidosis, and sideroblastic anemia 2 Aliases: MLASA2	YARS2	51067	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111188	myofibrillar myopathy 9 Aliases: Edstrom myopathy HIBM-ERF HMERF Hereditary inclusion body myopathy with early respiratory failure MFM-titinopathy MFM9 MPRM Myofibrillar myopathy-titinopathy autosomal dominant distal myopathy with early respiratory failure hereditary myopathy with early respiratory failure myofibrillar myopathy 9 with early respiratory failure proximal myopathy with early respiratory muscle involvement	TTN	7273	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111189	distal myopathy 3 Aliases: MPD3 distal muscular dystrophy 3 distal myopathy type 3	HNRNPA1	3178	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111190	distal myopathy 4 Aliases: MPD4 distal ABD-filaminopathy distal muscular dystrophy 4 distal myopathy with posterior leg and anterior hand involvement	FLNA FLNB FLNC	2316 2317 2318	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111193	facioscapulohumeral muscular dystrophy 2 Aliases: FSHD2 facioscapulohumeral muscular dystrophy 1B facioscapulohumeral muscular dystrophy type 2	SMCHD1	23347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111194	autosomal dominant adult-onset proximal spinal muscular atrophy Aliases: Finkel disease Finkel late-adult type SMA SMAFK autosomal dominant adult proximal spinal muscular atrophy autosomal dominant adult-onset proximal SMA autosomal dominant late-onset spinal muscular atrophy, Finkel type	VAPA VAPB	9217 9218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111196	X-linked distal spinal muscular atrophy 3 Aliases: ATP7A-related distal motor neuropathy DSMAX SMAX3 X-linked dHMN3 X-linked dSMA3 X-linked distal hereditary motor neuropathy type 3 X-linked recessive distal spinal muscular atrophy	ATP7A	538	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111198	autosomal dominant distal hereditary motor neuronopathy Aliases: autosomal dominant dHMN autosomal dominant distal hereditary motor neuropathy autosomal dominant distal spinal muscular atrophy	NARS1	4677	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7 Aliases: DHMN7A DHMNVPy HMN VIIA HMN7A Harper-Young myopath dHMN7 distal hereditary motor neuronopathy type 7 distal hereditary motor neuropathy type VIIA distal spinal muscular atrophy with vocal cord paralysis distal spinal muscular atrophy with vocal cord paralysis type 7A	SLC5A7	60482	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111202	autosomal dominant distal hereditary motor neuronopathy 14 Aliases: DHMN7B HMN VIIB HMN7B Harper-Young myopathy distal hereditary motor neuronopathy type 7B distal hereditary motor neuropathy type VIIB distal spinal muscular atrophy with vocal cord paralysis type 7B	DCTN1	1639	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2 Aliases: HMN II HMN IIA HMN2 HMN2A autosomal dominant adult spinal muscular atrophy IIA distal hereditary motor neuronopathy type 2 distal hereditary motor neuronopathy type 2A distal hereditary motor neuropathy type II distal hereditary motor neuropathy type IIA spinal Charcot-Marie-Tooth disease IIA	CRYAA HSPB8	1409 26353	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3 Aliases: HMN IIB HMN2B distal hereditary motor neuronopathy type 2B distal hereditary motor neuropathy type IIB	HSPB1	3315	Homo sapiens (human)	Alliance of Genome Resources

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