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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 8726 - 8750 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0111391
  • mucopolysaccharidosis IVA
  • Aliases:
    • GALNS deficiency
    • MPS IVA
    • MPS4A
    • Morquio A disease
    • Morquio syndrome A
Homo sapiens (human)
DOID:0111392
  • mucopolysaccharidosis type IVB
  • Aliases:
    • MPS IVB
    • MPS4B
    • Morquio disease type B
    • Morquio syndrome B
    • beta-D-galactosidase deficiency
    • mucopolysaccharidosis type IVB (Morquio)
Homo sapiens (human)
DOID:0080074
  • neural tube defect
Homo sapiens (human)
DOID:0111063
  • hyperphosphatemic familial tumoral calcinosis
  • Aliases:
    • HFTC
    • HHS
    • PHPTC
    • cortical hyperostosis with hyperphosphatemia
    • familial Teutschlaender disease
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
    • hypercalcemic tumoral calcinosis
    • hyperostosis with hyperphosphatemia
    • hyperphosphatemia hyperostosis
    • hyperphosphatemia hyperostosis syndrome
    • hyperphosphatemia tumoral calcinosis
    • lipocalcinogranulomatosis
    • morbus Teutschlaender
    • primary hyperphosphatemic tumoral calcinosis
    • tumoral calcinosis with hyperphosphatemia
Homo sapiens (human)
DOID:0060837
  • isolated microphthalmia 5
  • Aliases:
    • MCOP5
    • microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
    • posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
Mus musculus (house mouse)
DOID:635
  • acquired immunodeficiency syndrome
  • Aliases:
    • AIDS
    • acquired Immune deficiency
Homo sapiens (human)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Homo sapiens (human)
DOID:0110791
  • hereditary spastic paraplegia 3A
  • Aliases:
    • FSP1
    • SPG3A
    • autosomal dominant familial spastic paraplegia 1
    • autosomal dominant spastic paraplegia 3
    • autosomal dominant spastic paraplegia type 3
    • strumpell disease
Homo sapiens (human)
DOID:0070154
  • hereditary sensory neuropathy type 1F
  • Aliases:
    • HSN1F
    • hereditary sensory neuropathy type IF
Homo sapiens (human)
DOID:0081048
  • congenital limbs-face contractures-hypotonia-developmental delay syndrome
  • Aliases:
    • CLIFAHDD syndrome
    • congenital contractures of the limbs and face, hypotonia, and developmental delay
Homo sapiens (human)
DOID:0070280
  • primary autosomal recessive microcephaly 5
  • Aliases:
    • MCPH5
Homo sapiens (human)
DOID:0070443
  • neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Homo sapiens (human)
DOID:0060386
  • Chilblain lupus
Homo sapiens (human)
DOID:0060395
  • chromosome 15q24 deletion syndrome
  • Aliases:
    • 15q24 microdeletion syndrome
Homo sapiens (human)
DOID:0080272
  • nephrotic syndrome type 16
Homo sapiens (human)
DOID:0060108
  • brain glioma
  • Aliases:
    • lower grade glioma
Homo sapiens (human)
DOID:0060398
  • chromosome 16p11.2 deletion syndrome, 220-kb
  • Aliases:
    • distal 16p11.2 microdeletion syndrome
Homo sapiens (human)
DOID:0080443
  • developmental and epileptic encephalopathy 21
  • Aliases:
    • DEE21
    • early infantile epileptic encephalopathy 21
Homo sapiens (human)
DOID:0111227
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 7
  • Aliases:
    • ALS17 (FORMERLY)
    • AMYOTROPHIC LATERAL SCLEROSIS
    • AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY)
    • CHMP2B-RELATED
    • CHMP2B-related frontotemporal dementia
    • FRONTOTEMPORAL DEMENTIA
    • FTD3
    • FTDALS7
    • amyotrophic lateral sclerosis type 17
    • chromosome 3-linked frontotemporal dementia
Homo sapiens (human)
DOID:0070165
  • spermatogenic failure 18
  • Aliases:
    • SPGF18
Homo sapiens (human)
DOID:0080266
  • primary ciliary dyskinesia 37
Homo sapiens (human)
DOID:0111432
  • essential tremor 5
  • Aliases:
    • ETM5
    • hereditary essential tremor 5
Homo sapiens (human)
DOID:0090085
  • hypogonadotropic hypogonadism 9 with or without anosmia
Homo sapiens (human)
DOID:1319
  • brain cancer
  • Aliases:
    • BT - Brain tumour
    • adult brain tumor
    • adult malignant brain neoplasm
    • brain neoplasm
    • brain neoplasm, adult
    • malignant brain tumour
    • malignant primary brain neoplasm
    • malignant primary brain tumor
    • malignant tumor of Brain
    • malignant tumor of adult brain
    • neoplasm of brain
    • primary brain neoplasm
    • primary brain tumor
    • primary malignant neoplasm of brain
    • tumor of the Brain
Homo sapiens (human)
DOID:2215
  • factor VII deficiency
  • Aliases:
    • deficiency, stable
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024