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 3726 - 3750 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0050419
  • complement factor I deficiency
  • Aliases:
    • C3 INACTIVATOR DEFICIENCY
    • COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY
Rattus norvegicus (Norway rat)
DOID:0111253
  • neurofibromatosis 1
  • Aliases:
    • NF1
    • Peripheral Neurofibromatosis
    • Recklinghausen's neurofibromatosis
    • neurofibromatosis type I
    • von Recklinghausen Disease
Rattus norvegicus (Norway rat)
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Rattus norvegicus (Norway rat)
DOID:0111346
  • epidermolysis bullosa simplex with mottled pigmentation
  • Aliases:
    • EBSMP
    • Epidermolysis bullosa simplex-MP
    • speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
Rattus norvegicus (Norway rat)
DOID:0111498
  • combined oxidative phosphorylation deficiency 22
  • Aliases:
    • COXPD22
Rattus norvegicus (Norway rat)
DOID:3490
  • Noonan syndrome
  • Aliases:
    • Turner's phenotype, karyotype normal
Rattus norvegicus (Norway rat)
DOID:916
  • liver benign neoplasm
  • Aliases:
    • epithelial hepatic and intrahepatic bile duct neoplasm
Rattus norvegicus (Norway rat)
DOID:0060394
  • chromosome 15q13.3 microdeletion syndrome
  • Aliases:
    • 15q13.3 microdeletion syndrome
Rattus norvegicus (Norway rat)
DOID:479
  • angiokeratoma
  • Aliases:
    • Angiokeratoma of skin
    • Cutaneous Angiokeratoma
    • skin angiokeratoma
Rattus norvegicus (Norway rat)
DOID:0050811
  • congenital adrenal hyperplasia
  • Aliases:
    • adrenal hyperplasia 1
    • congenital lipoid adrenal hyperplasia
    • lipoid CAH
Rattus norvegicus (Norway rat)
DOID:0111373
  • familial progressive hyperpigmentation with or without hypopigmentation
  • Aliases:
    • FPHH
    • MUH
    • melanosis universalis hereditaria
Rattus norvegicus (Norway rat)
DOID:0081118
  • benign familial infantile seizures 5
  • Aliases:
    • Benign Familial Infantile Seizures, 5
Rattus norvegicus (Norway rat)
DOID:543
  • dystonia
  • Aliases:
    • dystonic disease
Rattus norvegicus (Norway rat)
DOID:1070
  • primary open angle glaucoma
  • Aliases:
    • chronic simple glaucoma
Rattus norvegicus (Norway rat)
DOID:0070226
  • progressive familial intrahepatic cholestasis 1
  • Aliases:
    • FIC1 deficiency
    • PFIC1
Rattus norvegicus (Norway rat)
DOID:589
  • congenital hemolytic anemia
  • Aliases:
    • congenital hemolytic anaemia
    • hereditary hemolytic anaemia
    • hereditary hemolytic anemia
Rattus norvegicus (Norway rat)
DOID:0060691
  • platelet-type bleeding disorder 16
  • Aliases:
    • autosomal dominant Glanzmann thrombasthenia
    • autosomal dominant thrombasthenia of Glanzmann and Naegeli
Rattus norvegicus (Norway rat)
DOID:2215
  • factor VII deficiency
  • Aliases:
    • deficiency, stable
Rattus norvegicus (Norway rat)
DOID:3320
  • Tay-Sachs disease
  • Aliases:
    • GM2 gangliosidosis, type 1
    • hexosaminidase A deficiency
Rattus norvegicus (Norway rat)
DOID:13810
  • familial hypercholesterolemia
  • Aliases:
    • Fredrickson type IIa hyperlipoproteinemia
    • Fredrickson type IIa lipidaemia
    • familial hyperbetalipoproteinaemia
    • familial hypercholesteremia
    • hyperbetalipoproteinemia
    • type II hyperlipidemia
Rattus norvegicus (Norway rat)
DOID:0050424
  • familial adenomatous polyposis
  • Aliases:
    • adenomatous polyposis of the colon
Rattus norvegicus (Norway rat)
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Rattus norvegicus (Norway rat)
DOID:0081102
  • familial gestational hyperthyroidism
Rattus norvegicus (Norway rat)
DOID:8866
  • actinic keratosis
  • Aliases:
    • SK - Solar keratosis
    • Senile hyperkeratosis
    • Solar keratosis
    • actinic (Solar) Keratosis
Rattus norvegicus (Norway rat)
DOID:0080208
  • metabolic dysfunction-associated steatotic liver disease
  • Aliases:
    • MAFLD
    • MASLD
    • NAFLD
    • metabolic dysfunction-associated fatty liver disease
    • metabolic dysfunction-related steatotic liver disease
    • metabolic-associated fatty liver disease
    • non-alcoholic fatty liver disease
    • nonalcoholic fatty liver disease
Rattus norvegicus (Norway rat)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024