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 726 - 750 of 4621 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0070224
  • progressive familial intrahepatic cholestasis 4
  • Aliases:
    • PFIC4
    • TJP2 deficit
Homo sapiens (human)
DOID:0070226
  • progressive familial intrahepatic cholestasis 1
  • Aliases:
    • FIC1 deficiency
    • PFIC1
Homo sapiens (human)
DOID:0070227
  • intrahepatic cholestasis of pregnancy
  • Aliases:
    • ICP
    • gravidic intrahepatic cholestasis
    • pregnancy related cholestasis
    • recurrent intrahepatic cholestasis of pregnancy
Homo sapiens (human)
DOID:0070230
  • benign recurrent intrahepatic cholestasis
  • Aliases:
    • BRIC
    • Summerskill-Walshe-Tygstrup syndrome
Homo sapiens (human)
DOID:0070238
  • primary coenzyme Q10 deficiency 1
  • Aliases:
    • COQ10D1
    • CoQ deficiency 1
    • CoQ10 deficiency, primary, 1
    • coenzyme Q deficiency 1
    • ubiquinone deficiency 1
Homo sapiens (human)
DOID:0070247
  • autosomal dominant Emery-Dreifuss muscular dystrophy 2
  • Aliases:
    • EDMD2
    • EMD2
    • Emery-Dreifuss muscular dystrophy 2, autosomal dominant
    • Emery-Dreifuss muscular dystrophy, autosomal dominant
    • Hauptmann-Thannhauser muscular dystrophy
    • autosomal dominant limb-girdle muscular dystrophy type 1B
    • muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
    • scapuloilioperoneal atrophy with cardiopathy
Homo sapiens (human)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Homo sapiens (human)
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Homo sapiens (human)
DOID:0070255
  • congenital disorder of glycosylation type IIc
  • Aliases:
    • CDG IIc
    • CDG2C
    • CDGIIc
    • Rambam-Hasharon syndrome
Homo sapiens (human)
DOID:0070256
  • congenital disorder of glycosylation type IId
  • Aliases:
    • CDG IId
    • CDG2D
    • CDGIId
Homo sapiens (human)
DOID:0070257
  • congenital disorder of glycosylation type IIe
  • Aliases:
    • CDG IIe
    • CDG syndrome type IIe
    • CDG2E
    • CDGIIde
    • COG7-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIe
Homo sapiens (human)
DOID:0070258
  • congenital disorder of glycosylation type IIf
  • Aliases:
    • CDG IIf
    • CDG2F
    • CDGIIdf
    • CMP-sialic acid transporter deficiency
    • Carbohydrate deficient glycoprotein syndrome type IIf
    • SLC35A1-CDG
Homo sapiens (human)
DOID:0070259
  • congenital disorder of glycosylation type IIg
  • Aliases:
    • CDG IIg
    • CDG2G
    • CDGII/COG1 cerebrocostomandibular-like syndrome
    • CDGIIg
    • Carbohydrate deficient glycoprotein syndrome type IIg
Homo sapiens (human)
DOID:0070260
  • congenital disorder of glycosylation type IIh
  • Aliases:
    • CDG IIh
    • CDG2H
    • CDGIIdh
    • COG8-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIh
    • Congenital disorder of glycosylation type 2h
Homo sapiens (human)
DOID:0070261
  • congenital disorder of glycosylation type IIi
  • Aliases:
    • CDG IIi
    • CDG syndrome type IIi
    • CDG2I
    • CDGIIdi
    • COG5-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIi
    • Congenital disorder of glycosylation type 2i
Homo sapiens (human)
DOID:0070262
  • congenital disorder of glycosylation type IIj
  • Aliases:
    • CDG IIj
    • CDG syndrome type IIj
    • CDG2J
    • CDGIIdj
    • COG4-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIj
    • Congenital disorder of glycosylation type 2j
Homo sapiens (human)
DOID:0070263
  • congenital disorder of glycosylation type IIk
  • Aliases:
    • CDG IIk
    • CDG syndrome type IIk
    • CDG2K
    • CDGIIdk
    • Carbohydrate deficient glycoprotein syndrome type IIk
    • Congenital disorder of glycosylation type 2k
    • TMEM165-CDG
Homo sapiens (human)
DOID:0070264
  • congenital disorder of glycosylation type IIl
  • Aliases:
    • CDG IIl
    • CDG syndrome type IIL
    • CDG2L
    • CDGIIdl
    • COG6-CGD
    • Congenital disorder of glycosylation type 2l
Homo sapiens (human)
DOID:0070265
  • congenital disorder of glycosylation type IIm
  • Aliases:
    • SLC35A2-CDG
    • congenital disorder of glycosylation type 2m
    • developmental and epileptic encephalopathy 22
    • epileptic encephalopathy, early infantile, 22
Homo sapiens (human)
DOID:0070266
  • congenital disorder of glycosylation type IIn
  • Aliases:
    • CDG IIn
    • CDG syndrome type IIn
    • CDG2N
    • CDGIIdn
    • Carbohydrate deficient glycoprotein syndrome type IIn
    • Congenital disorder of glycosylation type 2n
    • SLC39A8-CDG
Homo sapiens (human)
DOID:0070267
  • congenital disorder of glycosylation type IIo
  • Aliases:
    • CCDC115-CDG
    • CDG IIo
    • CDG syndrome type IIo
    • CDG2O
    • CDGIIdo
    • Carbohydrate deficient glycoprotein syndrome type IIo
    • Congenital disorder of glycosylation type 2o
Homo sapiens (human)
DOID:0070268
  • congenital disorder of glycosylation type IIp
  • Aliases:
    • CDG IIp
    • CDG syndrome type IIp
    • CDG2P
    • CDGIIdp
    • Carbohydrate deficient glycoprotein syndrome type IIp
    • Congenital disorder of glycosylation type 2p
    • TMEM199-CDG
Homo sapiens (human)
DOID:0070269
  • congenital disorder of glycosylation type IIq
  • Aliases:
    • CDG IIq
    • CDG2Q
    • CDGIIdq
    • COG2-CDG
    • COG2-related congenital disorder of glycosylation
Homo sapiens (human)
DOID:0070285
  • primary autosomal recessive microcephaly 1
  • Aliases:
    • MCPH1
Homo sapiens (human)
DOID:0070298
  • multiple epiphyseal dysplasia 2
  • Aliases:
    • EDM2
Homo sapiens (human)

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Last updated: August 19, 2024