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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 676 - 700 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0060867
  • macrocephaly-autism syndrome
  • Aliases:
    • macrocephaly-intellectual disability-autism syndrome
Homo sapiens (human)
DOID:0060868
  • leukoencephalopathy with vanishing white matter
  • Aliases:
    • CACH
    • CACH/VWM
    • childhood ataxia with central nervous system hypomyelination
    • vanishing white matter leukodystrophy
Homo sapiens (human)
DOID:0060870
  • isolated growth hormone deficiency
  • Aliases:
    • IGHD
    • congenital IGHD
    • congenital isolated GH deficiency
    • congenital isolated growth hormone deficiency
    • familial isolated growth hormone deficiency
    • non-acquired isolated growth hormone deficiency
Homo sapiens (human)
DOID:0060872
  • isolated growth hormone deficiency type II
  • Aliases:
    • IGHD II
    • autosomal dominant isolated growth hormone deficiency
    • autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency
    • congenital IGHD type II
    • congenital isolated GH deficiency type II
    • congenital isolated growth hormone deficiency type II
Homo sapiens (human)
DOID:0060874
  • isolated growth hormone deficiency type IB
  • Aliases:
    • IGHD IB
    • congenital IGHD type IB
    • congenital isolated GH deficiency type IB
    • congenital isolated growth hormone deficiency type IB
    • dwarfism of Sindh
Homo sapiens (human)
DOID:0060875
  • isolated growth hormone deficiency type III
  • Aliases:
    • Fleisher syndrome
    • IGHD III
    • X-linked IGHD
    • X-linked agammaglobulinemia and isolated growth hormone deficiency
    • X-linked hypogammaglobulinemia and isolated growth hormone deficiency
    • X-linked isolated growth hormone deficiency
    • congenital IGHD type III
    • congenital isolated GH deficiency type III
    • congenital isolated growth hormone deficiency type III
    • growth hormone deficiency with hypogammaglobulinemia
Homo sapiens (human)
DOID:0060877
  • bullous congenital ichthyosiform erythroderma
  • Aliases:
    • bullous type ichthyosis
    • ichthyosis bullosa of Siemens
    • superficial epidermolytic ichthyosis
Homo sapiens (human)
DOID:0060878
  • hypoparathyroidism-deafness-renal disease syndrome
  • Aliases:
    • Barakat syndrome
    • HDR syndrome
    • hypoparathyroidism, sensorineural deafness, and renal disease
Homo sapiens (human)
DOID:0060879
  • primary hypomagnesemia
  • Aliases:
    • HOMG
    • primary familial hypomagnesemia
Homo sapiens (human)
DOID:0060882
  • renal hypomagnesemia 4
  • Aliases:
    • HOMG4
Homo sapiens (human)
DOID:0060883
  • intestinal hypomagnesemia 1
  • Aliases:
    • HOMG1
    • hypomagnesemia caused by selective magnesium malabsorption
    • hypomagnesemia intestinal type 1
    • hypomagnesemic tetany
    • intestinal hypomagnesemia with secondary hypocalcemia
    • primary hypomagnesemia with secondary hypocalcemia
Homo sapiens (human)
DOID:0060884
  • renal hypomagnesemia 6
  • Aliases:
    • HOMG6
Homo sapiens (human)
DOID:0060887
  • ossification of the posterior longitudinal ligament of spine
  • Aliases:
    • OPLL
Homo sapiens (human)
DOID:0060889
  • prune belly syndrome
  • Aliases:
    • Eagle-Barret syndrome
    • Obrisnksy syndrome
    • abdominal muscle deficiency syndrome
Homo sapiens (human)
DOID:0060891
  • Parkinson's disease 19A
  • Aliases:
    • juvenile onset Parkinson disease 19A
    • juvenile onset Parkinson's disease 19A
Homo sapiens (human)
DOID:0060892
  • late onset Parkinson's disease
  • Aliases:
    • late onset Parkinson disease
Homo sapiens (human)
DOID:0060893
  • juvenile-onset Parkinson's disease
  • Aliases:
    • juvenile-onset Parkinson disease
Homo sapiens (human)
DOID:0060894
  • early-onset Parkinson's disease
  • Aliases:
    • early-onset Parkinson disease
Homo sapiens (human)
DOID:0060895
  • Parkinson's disease 4
  • Aliases:
    • autosomal dominant Lewy body Parkinson disease 4
    • autosomal dominant Parkinson disease 4
    • autosomal dominant Parkinson's disease 4
Homo sapiens (human)
DOID:0060896
  • Parkinson's disease 23
  • Aliases:
    • autosomal recessive early-onset Parkinson disease 23
    • autosomal recessive early-onset Parkinson's disease 23
Homo sapiens (human)
DOID:0060898
  • Parkinson's disease 20
  • Aliases:
    • early-onset Parkinson disease 20
    • early-onset Parkinson's disease 20
Homo sapiens (human)
DOID:0060900
  • Parkinson's disease 14
  • Aliases:
    • Dystonia-Parkinsonism Adult-Onset
    • autosomal recessive Parkinson disease 14
    • autosomal recessive Parkinson's disease 14
Homo sapiens (human)
DOID:0060901
  • lymphoplasmacytic lymphoma
  • Aliases:
    • Waldenstroem's macroglobulinemia
    • Waldenstrom Macroglobulinemia
    • lymphoplasmacytic lymphoma with IgM gammopathy
Homo sapiens (human)
DOID:0060902
  • Norman-Roberts syndrome
  • Aliases:
    • lissencephaly 2
    • lissencephaly syndrome, Norman-Roberts type
Homo sapiens (human)
DOID:0060903
  • thrombosis
Homo sapiens (human)
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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