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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 7176 - 7200 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0111480
  • combined oxidative phosphorylation deficiency 10
  • Aliases:
    • COXPD10
    • infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis
    • mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Homo sapiens (human)
DOID:0060286
  • combined oxidative phosphorylation deficiency
Homo sapiens (human)
DOID:0110191
  • Charcot-Marie-Tooth disease type 4B1
  • Aliases:
    • CMT4B1
    • Charcot-Marie-Tooth neuropathy type 4B1
    • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
Homo sapiens (human)
DOID:0111225
  • centronuclear myopathy X-linked
  • Aliases:
    • CNMX
    • MTM1
    • X-linked myotubular myopathy
    • XLCNM
    • XLMTM
    • myotubular myopathy 1
Homo sapiens (human)
DOID:0080633
  • developmental cardiac valvular defect
Homo sapiens (human)
DOID:0080664
  • diaphyseal medullary stenosis with malignant fibrous histiocytoma
  • Aliases:
    • Hardcastle syndrome
    • bone dysplasia-medullary fibrosarcoma syndrome
    • diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
Homo sapiens (human)
DOID:2468
  • psychotic disorder
  • Aliases:
    • mental or behavioural disorder
Homo sapiens (human)
DOID:0111072
  • myostatin-related muscle hypertrophy
  • Aliases:
    • MSLHP
Homo sapiens (human)
DOID:0112001
  • immunodeficiency 50
  • Aliases:
    • CID due to Moesin deficiency
    • IMD50
    • MSN-related combined immunodeficiency
    • X-linked Moesin-associated immunodeficiency
    • combined immunodeficiency due to Moesin deficiency
    • immunodeficiency 50 X linked recessive
Homo sapiens (human)
DOID:26
  • pancreas disease
Homo sapiens (human)
DOID:4897
  • bile duct carcinoma
Homo sapiens (human)
DOID:0070272
  • hereditary nonpolyposis colorectal cancer type 5
  • Aliases:
    • HNPCC5
Homo sapiens (human)
DOID:0070164
  • spermatogenic failure 2
  • Aliases:
    • SPGF2
Homo sapiens (human)
DOID:0070271
  • Lynch syndrome 1
  • Aliases:
    • FCC1
    • HNPCC1
    • familial nonpolyposis colon cancer type 1
    • hereditary nonpolyposis colorectal cancer type 1
Homo sapiens (human)
DOID:0081148
  • common variable immunodeficiency 5
Homo sapiens (human)
DOID:0111998
  • immunodeficiency 66
  • Aliases:
    • IMD66
Homo sapiens (human)
DOID:0111492
  • combined oxidative phosphorylation deficiency 32
  • Aliases:
    • COXPD32
Homo sapiens (human)
DOID:0112115
  • combined oxidative phosphorylation deficiency 46
  • Aliases:
    • COXPD46
Homo sapiens (human)
DOID:0111473
  • combined oxidative phosphorylation deficiency 5
  • Aliases:
    • COXPD5
    • hypotonia with lactic acidemia and hyperammonemia
Homo sapiens (human)
DOID:0080499
  • ovarian dysgenesis 7
Homo sapiens (human)
DOID:0111469
  • combined oxidative phosphorylation deficiency 16
  • Aliases:
    • COXPD16
    • infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Homo sapiens (human)
DOID:0081384
  • ataxia-telangiectasia-like disorder-1
Homo sapiens (human)
DOID:0111640
  • autosomal recessive nonsyndromic deafness 111
  • Aliases:
    • DFNB111
    • autosomal recessive deafness 111
Homo sapiens (human)
DOID:0110157
  • Charcot-Marie-Tooth disease type 2J
  • Aliases:
    • CMT2J
    • Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities
    • Charcot-Marie-Tooth neuropathy type 2J
Homo sapiens (human)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Homo sapiens (human)
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Last updated: December 9, 2024