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 9926 - 9950 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:3594
  • choriocarcinoma
  • Aliases:
    • Chorioepithelioma
Homo sapiens (human)
DOID:0111566
  • familial isolated trichomegaly
  • Aliases:
    • TCMGLY
    • long eyelashes
Homo sapiens (human)
DOID:0050948
  • autosomal dominant hypophosphatemic rickets
Homo sapiens (human)
DOID:0090082
  • hypogonadotropic hypogonadism 20 with or without anosmia
Homo sapiens (human)
DOID:0111813
  • syndactyly type 8
  • Aliases:
    • fusion of metacarpals 4 and 5
    • metacarpal 4-5 fusion
Homo sapiens (human)
DOID:0111549
  • aplasia of lacrimal and salivary glands
  • Aliases:
    • ALSG
    • congenital absence of lacrimal puncta and salivary glands
Homo sapiens (human)
DOID:0081372
  • lacrimoauriculodentodigital syndrome 3
  • Aliases:
    • Lacrimo-auriculo-dento-digital syndrome 3
Homo sapiens (human)
DOID:0050331
  • lacrimoauriculodentodigital syndrome 1
  • Aliases:
    • LEVY-HOLLISTER SYNDROME
    • Lacrimo-auriculo-dento-digital syndrome 1
Homo sapiens (human)
DOID:0080425
  • developmental and epileptic encephalopathy 47
  • Aliases:
    • DEE47
    • early infantile epileptic encephalopathy 47
Homo sapiens (human)
DOID:6683
  • X-linked Aarskog syndrome
  • Aliases:
    • Aarskog-Scott syndrome
    • Greig's syndrome
Homo sapiens (human)
DOID:0110192
  • Charcot-Marie-Tooth disease type 4H
  • Aliases:
    • CMT4H
    • Charcot-Marie-Tooth neuropathy type 4H
    • autosomal recessive Charcot-Marie-Tooth disease type 4H
    • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
Homo sapiens (human)
DOID:484
  • vascular hemostatic disease
Homo sapiens (human)
DOID:0050636
  • familial visceral amyloidosis
  • Aliases:
    • AMYLOIDOSIS, FAMILIAL RENAL
    • German type amyloidosis
    • OSTERTAG TYPE AMYLOIDOSIS
    • systemic nonneuropathic amyloidosis
Homo sapiens (human)
DOID:0112313
  • brain small vessel disease
Homo sapiens (human)
DOID:2236
  • congenital afibrinogenemia
  • Aliases:
    • Factor I deficiency
    • Fibrinogen deficiency
Homo sapiens (human)
DOID:0090081
  • hypogonadotropic hypogonadism 22 with or without anosmia
Homo sapiens (human)
DOID:0111723
  • Jacobsen Syndrome
  • Aliases:
    • Jacobsen distal 11q deletion syndrome
    • chromosome 11q deletion syndrome
    • partial 11q monosomy syndrome
Homo sapiens (human)
DOID:11724
  • limb-girdle muscular dystrophy
  • Aliases:
    • Erb's muscular dystrophy
    • Leyden-Mbius muscular dystrophy
    • limb girdle muscular dystrophy
Homo sapiens (human)
DOID:2742
  • auditory system disease
  • Aliases:
    • ear and mastoid disease
Homo sapiens (human)
DOID:5723
  • optic atrophy
  • Aliases:
    • atrophy of optic disc
Homo sapiens (human)
DOID:3805
  • porokeratosis
  • Aliases:
    • disseminated superficial actinic porokeratosis
Homo sapiens (human)
DOID:1587
  • thrombocytopenia due to platelet alloimmunization
  • Aliases:
    • Auto-immune thrombocytopenia
    • Immune thrombocytopenia
    • Thrombocytopenia Due to Immune Destruction
Homo sapiens (human)
DOID:0111941
  • immunodeficiency 20
  • Aliases:
    • CD16 deficiency
    • IMD20
    • autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
    • autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Homo sapiens (human)
DOID:633
  • myositis
  • Aliases:
    • Inflammatory disorder of muscle
Homo sapiens (human)
DOID:0080179
  • haemophilus meningitis
Homo sapiens (human)

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