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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 4776 - 4800 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0081046
  • frontonasal dysplasia 2
Homo sapiens (human)
DOID:0081048
  • congenital limbs-face contractures-hypotonia-developmental delay syndrome
  • Aliases:
    • CLIFAHDD syndrome
    • congenital contractures of the limbs and face, hypotonia, and developmental delay
Homo sapiens (human)
DOID:0081048
  • congenital limbs-face contractures-hypotonia-developmental delay syndrome
  • Aliases:
    • CLIFAHDD syndrome
    • congenital contractures of the limbs and face, hypotonia, and developmental delay
Mus musculus (house mouse)
DOID:0081051
  • microcephaly, growth deficiency, seizures, and brain malformations
Mus musculus (house mouse)
DOID:0081060
  • X-linked nephrogenic diabetes insipidus
  • Aliases:
    • nephrogenic diabetes insipidus type 1
Homo sapiens (human)
DOID:0081060
  • X-linked nephrogenic diabetes insipidus
  • Aliases:
    • nephrogenic diabetes insipidus type 1
Caenorhabditis elegans
DOID:0081060
  • X-linked nephrogenic diabetes insipidus
  • Aliases:
    • nephrogenic diabetes insipidus type 1
Mus musculus (house mouse)
DOID:0081060
  • X-linked nephrogenic diabetes insipidus
  • Aliases:
    • nephrogenic diabetes insipidus type 1
Rattus norvegicus (Norway rat)
DOID:0081061
  • nephrogenic diabetes insipidus type 2
  • Aliases:
    • autosomal nephrogenic diabetes insipidus-2
Rattus norvegicus (Norway rat)
DOID:0081061
  • nephrogenic diabetes insipidus type 2
  • Aliases:
    • autosomal nephrogenic diabetes insipidus-2
Homo sapiens (human)
DOID:0081061
  • nephrogenic diabetes insipidus type 2
  • Aliases:
    • autosomal nephrogenic diabetes insipidus-2
Mus musculus (house mouse)
DOID:0081063
  • DICER1 syndrome
  • Aliases:
    • PPB familial tumor susceptibility syndrome
    • Pleuro-pulmonary blastoma familial tumor susceptibility
    • Pleuro-pulmonary blastoma familial tumor susceptibility syndrome
    • Pleuropulmonary blastoma familial tumor susceptibility syndrome
Homo sapiens (human)
DOID:0081072
  • craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
  • Aliases:
    • Cerebro-facio-thoracic dysplasia
    • Cerebrofaciothoracic dysplasia
    • Pascual-Castroviejo syndrome
    • TMCO1 defect syndrome
Homo sapiens (human)
DOID:0081074
  • Teebi hypertelorism syndrome 2
Homo sapiens (human)
DOID:0081074
  • Teebi hypertelorism syndrome 2
Mus musculus (house mouse)
DOID:0081074
  • Teebi hypertelorism syndrome 2
Rattus norvegicus (Norway rat)
DOID:0081075
  • Marsili syndrome
  • Aliases:
    • congenital analgesia
    • congenital insensitivity to pain
Homo sapiens (human)
DOID:0081075
  • Marsili syndrome
  • Aliases:
    • congenital analgesia
    • congenital insensitivity to pain
Mus musculus (house mouse)
DOID:0081082
  • acute myelomonocytic leukemia
Caenorhabditis elegans
DOID:0081082
  • acute myelomonocytic leukemia
Mus musculus (house mouse)
DOID:0081082
  • acute myelomonocytic leukemia
Homo sapiens (human)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Saccharomyces cerevisiae S288C
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Rattus norvegicus (Norway rat)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Caenorhabditis elegans
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Mus musculus (house mouse)
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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

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Last updated: December 9, 2024