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 12151 - 12175 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0081212
  • autosomal recessive intellectual developmental disorder 48
Homo sapiens (human)
DOID:3263
  • piebaldism
  • Aliases:
    • PIEBALD TRAIT
    • Partial albinism
Homo sapiens (human)
DOID:0080330
  • cold-induced sweating syndrome 2
Homo sapiens (human)
DOID:0112103
  • Sotos syndrome 1
  • Aliases:
    • SOTOS1
Homo sapiens (human)
DOID:0112319
  • Kanzaki disease
  • Aliases:
    • NAGA deficiency type 2
    • adult-onset alpha-N-acetylgalactosaminidase deficiency
    • alpha-N-acetylgalactosaminidase deficiency type 2
Homo sapiens (human)
DOID:0112008
  • pituitary adenoma 5
  • Aliases:
    • PITA5
    • pituitary adenoma 5, multiple types
Homo sapiens (human)
DOID:0050939
  • uterine corpus endometrial carcinoma
Homo sapiens (human)
DOID:4184
  • pseudohypoparathyroidism
Homo sapiens (human)
DOID:0050820
  • atrioventricular block
  • Aliases:
    • AV block
Homo sapiens (human)
DOID:0111030
  • hemochromatosis type 3
  • Aliases:
    • HFE3
    • TFR2-related hemochromatosis
    • hemochromatosis due to defect in transferrin receptor 2
Homo sapiens (human)
DOID:4511
  • breast angiosarcoma
  • Aliases:
    • hemangiosarcoma of the breast
Homo sapiens (human)
DOID:14067
  • Plasmodium falciparum malaria
  • Aliases:
    • Malaria fever, subtertian
    • falciparum malaria
    • malignant tertian fever
Homo sapiens (human)
DOID:3612
  • retinitis
Homo sapiens (human)
DOID:0112354
  • spermatogenic failure 65
  • Aliases:
    • SPGF65
Homo sapiens (human)
DOID:0111436
  • optic atrophy 11
  • Aliases:
    • OPA11
Homo sapiens (human)
DOID:0110727
  • neuronal ceroid lipofuscinosis 13
  • Aliases:
    • CLN13
    • neuronal ceroid lipofuscinosis 13 Kufs type
Homo sapiens (human)
DOID:0080020
  • Jansen's metaphyseal chondrodysplasia
  • Aliases:
    • Jansen Disease
    • Jansen Metaphyseal Dysostosis
    • Jansen metaphyseal chondrodysplasia
    • Murk Jansen Type Metaphyseal Chondrodysplasia
Homo sapiens (human)
DOID:11119
  • Gilles de la Tourette syndrome
  • Aliases:
    • Guinon's disease
    • Psychogenic tics
    • Tourette syndrome
    • motor-verbal tic disorder
Homo sapiens (human)
DOID:0111169
  • subcortical band heterotopia
  • Aliases:
    • HeCo
    • band heterotopia
    • double cortex syndrome
    • heterotopic cortex
    • subcortical laminar heterotopia
Homo sapiens (human)
DOID:6846
  • familial melanoma
Homo sapiens (human)
DOID:5325
  • Roberts syndrome
  • Aliases:
    • LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
    • RBS
    • Roberts-Sc Phocomelia Syndrome
    • SC phocomelia syndrome
Homo sapiens (human)
DOID:0081274
  • peroxisome biogenesis disorder 14B
Homo sapiens (human)
DOID:0080788
  • proximal symphalangism 2
Homo sapiens (human)
DOID:3907
  • lung squamous cell carcinoma
  • Aliases:
    • Epidermoid cell carcinoma of the lung
Homo sapiens (human)
DOID:8564
  • lip cancer
  • Aliases:
    • malignant neoplasm of commissure of lip
    • malignant neoplasm of external Lip, not specified as upper or lower
    • malignant neoplasm of labial commissure of lip
    • malignant neoplasm of lip
    • malignant neoplasm of lip, external
    • malignant neoplasm of lip, inner aspect
    • malignant neoplasm of lip, vermilion border
    • malignant neoplasm of lower lip, buccal aspect
    • malignant neoplasm of lower lip, inner aspect
    • malignant neoplasm of lower lip, mucosa
    • malignant neoplasm of lower lip, oral aspect
    • malignant neoplasm of oral aspect of lip, not specified whether upper or lower
    • malignant neoplasm of other sites of lip
    • malignant neoplasm of vermilion border of lip
    • malignant tumor of commissure of lip
    • malignant tumor of labial mucosa
    • malignant tumor of lip
    • malignant tumor of lower labial mucosa
    • malignant tumor of the Lip
    • malignant tumour of labial commissure
    • malignant tumour of lip
Homo sapiens (human)

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Last updated: December 9, 2024