GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 826 - 850 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:3079
  • childhood astrocytic tumor
  • Aliases:
    • juvenile astrocytoma
    • pediatric astrocytoma
Homo sapiens (human)
DOID:0060842
  • isolated microphthalmia 3
  • Aliases:
    • MCOP3
Homo sapiens (human)
DOID:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Homo sapiens (human)
DOID:2436
  • glomangioma
  • Aliases:
    • Glomuvenous Malformation
Homo sapiens (human)
DOID:0090062
  • familial cold autoinflammatory syndrome 1
Homo sapiens (human)
DOID:1076
  • chronic pyelonephritis
Homo sapiens (human)
DOID:0111167
  • Dyggve-Melchior-Clausen disease
  • Aliases:
    • DMC disease
    • pseudo-Morquio disease type I
Homo sapiens (human)
DOID:0080087
  • nonsyndromic congenital nail disorder 9
Homo sapiens (human)
DOID:0080240
  • non-syndromic X-linked intellectual disability 106
  • Aliases:
    • MRX106
    • X-linked mental retardation 106
Homo sapiens (human)
DOID:8923
  • skin melanoma
  • Aliases:
    • cutaneous melanoma
    • malignant ear melanoma
    • malignant lip melanoma
    • malignant lower limb melanoma
    • malignant melanoma of ear and/or external auricular canal
    • malignant melanoma of skin of lower limb
    • malignant melanoma of skin of trunk except scrotum
    • malignant melanoma of skin of upper limb
    • malignant neck melanoma
    • malignant scalp melanoma
    • malignant trunk melanoma
    • malignant upper limb melanoma
Homo sapiens (human)
DOID:4465
  • papillary renal cell carcinoma
  • Aliases:
    • Chromophil carcinoma of kidney
    • papillary kidney carcinoma
    • sporadic papillary renal cell carcinoma
Homo sapiens (human)
DOID:0050644
  • arterial calcification of infancy
  • Aliases:
    • generalized arterial calcification of infancy
    • idiopathic infantile arterial calcification
    • infantile arteriosclerosis
Homo sapiens (human)
DOID:0070330
  • multiple mitochondrial dysfunctions syndrome
  • Aliases:
    • fatal multiple mitochondrial dysfunction syndrome
Homo sapiens (human)
DOID:0060563
  • Char syndrome
Homo sapiens (human)
DOID:1657
  • ventricular septal defect
  • Aliases:
    • Interventricular septal defect
    • Ventricular septal abnormality
Homo sapiens (human)
DOID:0060673
  • Peters anomaly
Homo sapiens (human)
DOID:12098
  • trigeminal neuralgia
  • Aliases:
    • Trifacial neuralgia
    • trifocal neuralgia
Homo sapiens (human)
DOID:2256
  • osteochondrodysplasia
  • Aliases:
    • Cartilage Development disorder
    • Congenital anomaly of cartilage
    • Osteochondrodysplasia syndrome
    • chondrodystrophy
    • skeletal dysplasia
Homo sapiens (human)
DOID:0060055
  • popliteal pterygium syndrome
  • Aliases:
    • facio-genito-popliteal syndrome
    • popliteal web syndrome
Homo sapiens (human)
DOID:11722
  • myotonic dystrophy type 1
  • Aliases:
    • Dystrophia myotonica
    • Steinert disease
    • congenital myotonic dystrophy
    • myotonic dystrophy of Steinert
Homo sapiens (human)
DOID:0080718
  • GNE myopathy
  • Aliases:
    • Distal myopathy, Nonaka type
    • Hereditary Inclusion Body Myopathy
    • Nonaka myopathy
    • inclusion body myopathy 2
Homo sapiens (human)
DOID:9266
  • cystinuria
Homo sapiens (human)
DOID:0060671
  • cerebral cavernous malformation 3
Homo sapiens (human)
DOID:5273
  • cutaneous leiomyosarcoma
  • Aliases:
    • leiomyosarcoma of the skin
Homo sapiens (human)
DOID:10273
  • heart conduction disease
  • Aliases:
    • heart rhythm disease
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024