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
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
Homo sapiens (human)
DOID:0111156
  • spermatogenic failure 9
  • Aliases:
    • globozoospermia
    • male infertility due to round-headed spermatozoa
Homo sapiens (human)
DOID:0111158
  • SADDAN
  • Aliases:
    • SADDAN dysplasia
    • severe achondroplasia with developmental delay and acanthosis nigricans
Homo sapiens (human)
DOID:0111160
  • camptodactyly-tall stature-scoliosis-hearing loss syndrome
  • Aliases:
    • CATSHL syndrome
Homo sapiens (human)
DOID:0111161
  • Crouzon syndrome-acanthosis nigricans syndrome
  • Aliases:
    • CAN
    • Crouzon-dermoskeletal syndrome
    • Crouzonodermoskeletal syndrome
Homo sapiens (human)
DOID:0111162
  • epidermal nevus
  • Aliases:
    • nonepidermolytic keratinocytic nevus
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0111167
  • Dyggve-Melchior-Clausen disease
  • Aliases:
    • DMC disease
    • pseudo-Morquio disease type I
Homo sapiens (human)
DOID:0111169
  • subcortical band heterotopia
  • Aliases:
    • HeCo
    • band heterotopia
    • double cortex syndrome
    • heterotopic cortex
    • subcortical laminar heterotopia
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0111181
  • familial hemiplegic migraine 1
  • Aliases:
    • FHM1
    • MHP1
    • familial hemiplegic migraine1 with progressive cerebellar ataxia
Homo sapiens (human)
DOID:0111182
  • familial hemiplegic migraine 2
  • Aliases:
    • FHM2
    • Familial hemiplegic migraine-2
    • MHP2
Homo sapiens (human)
DOID:0111183
  • familial hemiplegic migraine 3
  • Aliases:
    • FHM3
    • MHP3
Homo sapiens (human)
DOID:0111186
  • myopathy, lactic acidosis, and sideroblastic anemia 2
  • Aliases:
    • MLASA2
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0111189
  • distal myopathy 3
  • Aliases:
    • MPD3
    • distal muscular dystrophy 3
    • distal myopathy type 3
Homo sapiens (human)
DOID:0111190
  • distal myopathy 4
  • Aliases:
    • MPD4
    • distal ABD-filaminopathy
    • distal muscular dystrophy 4
    • distal myopathy with posterior leg and anterior hand involvement
Homo sapiens (human)
DOID:0111193
  • facioscapulohumeral muscular dystrophy 2
  • Aliases:
    • FSHD2
    • facioscapulohumeral muscular dystrophy 1B
    • facioscapulohumeral muscular dystrophy type 2
Homo sapiens (human)
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
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0111198
  • autosomal dominant distal hereditary motor neuronopathy
  • Aliases:
    • autosomal dominant dHMN
    • autosomal dominant distal hereditary motor neuropathy
    • autosomal dominant distal spinal muscular atrophy
Homo sapiens (human)
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
Homo sapiens (human)
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
Homo sapiens (human)
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
Homo sapiens (human)
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
Homo sapiens (human)

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Last updated: December 9, 2024