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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 8326 - 8350 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0070040
  • autosomal dominant intellectual developmental disorder 10
  • Aliases:
    • MRD10
    • autosomal dominant mental retardation 10
    • autosomal dominant non-syndromic intellectual disability 10
Homo sapiens (human)
DOID:0081042
  • T-cell prolymphocytic leukemia
  • Aliases:
    • Prolymphocytic leukemia, T-cell type
    • T Cell Prolymphocytic Leukemia
Homo sapiens (human)
DOID:0110849
  • xeroderma pigmentosum group G
  • Aliases:
    • XP group G
    • XP7
    • XPG
    • xeroderma pigmentosum VII
Homo sapiens (human)
DOID:0060805
  • Prieto syndrome
  • Aliases:
    • Prieto-Badia-Mulas syndrome
    • X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Homo sapiens (human)
DOID:0112167
  • autosomal dominant nonsyndromic deafness 76
  • Aliases:
    • DFNA76
Homo sapiens (human)
DOID:3319
  • lymphangioleiomyomatosis
  • Aliases:
    • lung lymphangioleiomyomatosis
    • lymphangiomyomatosis
    • pulmonary lymphangioleiomyomatosis
Homo sapiens (human)
DOID:0080365
  • endometrial hyperplasia
Homo sapiens (human)
DOID:0110206
  • Charcot-Marie-Tooth disease dominant intermediate F
  • Aliases:
    • CMTDIF
    • autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Homo sapiens (human)
DOID:0110839
  • Usher syndrome type 2C
  • Aliases:
    • USH2C
    • Usher syndrome IIC
    • Usher syndrome type IIC
Homo sapiens (human)
DOID:0110074
  • arrhythmogenic right ventricular dysplasia 5
  • Aliases:
    • ARVC5
    • ARVD5
    • arrhythmogenic right ventricular cardiomyopathy 5
    • familial arrhythmogenic right ventricular dysplasia 5
Homo sapiens (human)
DOID:0112136
  • severe congenital neutropenia 4
  • Aliases:
    • Dursun syndrome
    • SCN4
    • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
    • severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Homo sapiens (human)
DOID:12361
  • Graves' disease
  • Aliases:
    • Grave's disease
    • Graves disease
    • exophthalmic goiter
Homo sapiens (human)
DOID:112
  • esophageal varix
  • Aliases:
    • Bleeding esophageal varices
    • Bleeding oesophageal varices
    • esophageal varices
    • esophageal varices in disease classified elsewhere, with bleeding
    • esophageal varices with bleeding
    • esophageal varices with bleeding in disease EC
    • esophageal varices without bleeding
    • esophageal varices without mention of bleeding
Homo sapiens (human)
DOID:13268
  • porphyria
  • Aliases:
    • Hematoporphyria
    • Porphyrinopathy
    • disorder of porphyrin and hem metabolism
    • disorder of porphyrin metabolism
Homo sapiens (human)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Homo sapiens (human)
DOID:0080451
  • developmental and epileptic encephalopathy 29
  • Aliases:
    • DEE29
    • early infantile epileptic encephalopathy 29
Homo sapiens (human)
DOID:0081426
  • autosomal recessive distal hereditary motor neuronopathy 7
Homo sapiens (human)
DOID:0080572
  • congenital disorder of glycosylation Iw
  • Aliases:
    • congenital disorder of glycosylation 1w
Homo sapiens (human)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Homo sapiens (human)
DOID:0081396
  • neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
  • Aliases:
    • PHRINL syndrome
Homo sapiens (human)
DOID:0070370
  • restrictive dermopathy 2
Homo sapiens (human)
DOID:0070007
  • Seckel syndrome 1
  • Aliases:
    • SCKL1
    • microcephalic primordial dwarfism I
Homo sapiens (human)
DOID:3905
  • lung carcinoma
  • Aliases:
    • cancer of lung
Homo sapiens (human)
DOID:0110030
  • alpha thalassemia-X-linked intellectual disability syndrome
  • Aliases:
    • ATR, nondeletion type
    • ATR-X syndrome
    • alpha-thalassemia/mental retardation syndrome nondeletion type
Homo sapiens (human)
DOID:0111463
  • cardiofaciocutaneous syndrome 4
  • Aliases:
    • CFC4
Homo sapiens (human)
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Last updated: December 9, 2024