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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 26 - 50 of 4115 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:6271
  • gastric cardia adenocarcinoma
  • Aliases:
    • adenocarcinoma of Cardia of stomach
Homo sapiens (human)
DOID:0080941
  • acquired angioedema
Homo sapiens (human)
DOID:3114
  • serous cystadenocarcinoma
  • Aliases:
    • serous adenocarcinoma
    • serous carcinoma
Homo sapiens (human)
DOID:0050427
  • xeroderma pigmentosum
Homo sapiens (human)
DOID:0110844
  • xeroderma pigmentosum group C
  • Aliases:
    • XP group C
    • XP3
    • XPC
    • XPCC
    • xeroderma pigmentosum III
Homo sapiens (human)
DOID:0060706
  • X-linked lymphoproliferative syndrome 2
  • Aliases:
    • XIAP deficiency
    • XLP2
Homo sapiens (human)
DOID:0112181
  • Schinzel type phocomelia
  • Aliases:
    • AARRS
    • Al Awadi-Raas-Rothschild syndrome
    • Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
    • LPHAS
    • Schinzel phocomelia syndrome
    • absence of ulna and fibula with severe limb deficiency
    • aplasia/hypoplasia of limbs and pelvis
    • congenital absence of ulna and fibula
    • limb/pelvis-hypoplasia/aplasia syndrome
    • severe limb deficit
Homo sapiens (human)
DOID:0090067
  • Fuhrmann syndrome
Homo sapiens (human)
DOID:0060766
  • autosomal dominant Robinow syndrome 1
  • Aliases:
    • DRS1
Homo sapiens (human)
DOID:0111526
  • Mullerian aplasia and hyperandrogenism
  • Aliases:
    • Mullerian duct failure and hyperandrogenism
    • WNT4 deficiency
Homo sapiens (human)
DOID:0112192
  • tetraamelia syndrome 1
  • Aliases:
    • TETAMS1
    • tetra-amelia syndrome 1
Homo sapiens (human)
DOID:3996
  • urinary system cancer
Homo sapiens (human)
DOID:0090026
  • split hand-foot malformation 6
  • Aliases:
    • SHFM6
Homo sapiens (human)
DOID:0111647
  • Schopf-Schulz-Passarge syndrome
  • Aliases:
    • SSPS
    • eccrine tumors-ectodermal dysplasia
    • keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
    • palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
    • palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
Homo sapiens (human)
DOID:0110347
  • osteogenesis imperfecta type 15
  • Aliases:
    • OI15
    • osteogenesis imperfecta type XV
Homo sapiens (human)
DOID:0060805
  • Prieto syndrome
  • Aliases:
    • Prieto-Badia-Mulas syndrome
    • X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Homo sapiens (human)
DOID:0070155
  • hereditary sensory and autonomic neuropathy type 2A
  • Aliases:
    • HSAN2A
    • hereditary sensory and autonomic neuropathy type IIA
Homo sapiens (human)
DOID:0070473
  • Zaki syndrome
Homo sapiens (human)
DOID:0110490
  • autosomal recessive nonsyndromic deafness 31
  • Aliases:
    • DFNB31
    • autosomal recessive deafness 31
Homo sapiens (human)
DOID:0110840
  • Usher syndrome type 2D
  • Aliases:
    • USH2D
    • Usher syndrome type IID
Homo sapiens (human)
DOID:0110584
  • autosomal dominant nonsyndromic deafness 6
  • Aliases:
    • DFNA14
    • DFNA38
    • DFNA6
    • DFNA6/14/38
    • autosomal dominant deafness 14
    • autosomal dominant deafness 38
    • autosomal dominant deafness 6
Homo sapiens (human)
DOID:10632
  • Wolfram syndrome
  • Aliases:
    • WFS
Homo sapiens (human)
DOID:0080584
  • autosomal dominant Wolfram syndrome
Homo sapiens (human)
DOID:0110241
  • cataract 41
  • Aliases:
    • CTRCT41
    • congenital nuclear type cataract 41
Homo sapiens (human)
DOID:0110629
  • Wolfram syndrome 1
  • Aliases:
    • DIDMOAD
    • WFS1
    • diabetes mellitus AND insipidus with optic atrophy AND deafness
Homo sapiens (human)

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Last updated: April 7, 2025