GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3551 - 3575 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0060535
  • Warsaw breakage syndrome
  • Aliases:
    • WABS
Homo sapiens (human)
DOID:6163
  • familial renal papillary carcinoma
  • Aliases:
    • Hereditary Papillary renal carcinoma
Homo sapiens (human)
DOID:10322
  • berylliosis
  • Aliases:
    • beryllium poisoning
Homo sapiens (human)
DOID:12270
  • coloboma
  • Aliases:
    • coloboma of eye
    • coloboma of macula
    • congenital ocular coloboma
Homo sapiens (human)
DOID:3720
  • extramedullary plasmacytoma
  • Aliases:
    • extraosseous plasmacytoma
    • plasmacytoma, extramedullary
Homo sapiens (human)
DOID:1523
  • colon lymphoma
  • Aliases:
    • Colonic Lymphoma
Homo sapiens (human)
DOID:1100
  • ovarian disease
Homo sapiens (human)
DOID:0110222
  • Brugada syndrome 5
  • Aliases:
    • BRGDA5
Homo sapiens (human)
DOID:9252
  • amino acid metabolic disorder
  • Aliases:
    • inborn errors of amino acid metabolism
Homo sapiens (human)
DOID:0050572
  • cone-rod dystrophy
  • Aliases:
    • cone-rod retinal dystrophy
Homo sapiens (human)
DOID:14777
  • benign familial neonatal epilepsy
  • Aliases:
    • familial neonatal seizures
Homo sapiens (human)
DOID:10017
  • multiple endocrine neoplasia type 1
  • Aliases:
    • MEN type I
    • Wermer syndrome
    • Wermer's syndrome
Homo sapiens (human)
DOID:0110168
  • Charcot-Marie-Tooth disease type 2Y
  • Aliases:
    • CMT2 due to VCP mutation
    • CMT2Y
    • Charcot-Marie-Tooth neuropathy type 2Y
    • autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
    • autosomal dominant axonal Charcot-Marie-Tooth type 2Y
Homo sapiens (human)
DOID:2106
  • myotonia congenita
  • Aliases:
    • Batten Turner congenital myopathy
    • Thomsen and Becker disease
Homo sapiens (human)
DOID:0110200
  • Charcot-Marie-Tooth disease dominant intermediate D
  • Aliases:
    • CMTDID
    • Charcot-Marie-Tooth neuropathy dominant intermediate D
    • DI-CMTD
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Homo sapiens (human)
DOID:0060763
  • X-linked juvenile retinoschisis 1
  • Aliases:
    • X-linked juvenile retinoschisis
    • X-linked retinoschisis
    • XLRS
Homo sapiens (human)
DOID:0080467
  • developmental and epileptic encephalopathy 2
  • Aliases:
    • DEE2
    • EIEE2
    • X-linked infantile spasm syndrome 2
    • early infantile epileptic encephalopathy 2
Homo sapiens (human)
DOID:1882
  • atrial heart septal defect
  • Aliases:
    • atrial septal defect
    • atrioseptal defect
    • auricular septal defect
    • congenital atrial septal defect
    • interatrial septal defect
    • interauricular septal defect
Homo sapiens (human)
DOID:0070094
  • oculocutaneous albinism type IA
  • Aliases:
    • OCA1A
    • Oculocutaneous Albinism, Tyrosinase-Negative
Homo sapiens (human)
DOID:0110553
  • autosomal dominant nonsyndromic deafness 23
  • Aliases:
    • DFNA23
    • autosomal dominant deafness 23
Homo sapiens (human)
DOID:12179
  • tinea corporis
  • Aliases:
    • Dermatophytosis of the trunk
    • dermatophytosis of the body
Homo sapiens (human)
DOID:4252
  • Alexander disease
  • Aliases:
    • Alexander's disease
Homo sapiens (human)
DOID:8590
  • acute vascular insufficiency of intestine
  • Aliases:
    • acute GIT vascular insuffic.
    • acute gastrointestinal tract vascular insuffic.
    • acute intestinal Ischemia
    • acute intestinal vascular insufficiency
Homo sapiens (human)
DOID:1911
  • endodermal sinus tumor
  • Aliases:
    • Hepatoid yolk sac tumour
    • Yolk Sac neoplasm
    • Yolk sac tumour
    • endodermal sinus tumour
    • infantile embryonal carcinoma
    • yolk sac tumor
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)

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024