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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 14501 - 14525 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:14766
  • renal agenesis
  • Aliases:
    • hereditary renal aplasia
    • hereditary urogenital adysplasia
    • renal adysplasia
    • renal aplasia
Danio rerio (zebrafish)
DOID:3049
  • Churg-Strauss syndrome
  • Aliases:
    • Allergic Granulomatous Angiitis
    • Allergic granulomatosis angiitis
    • Churg-Strauss vasculitis
Danio rerio (zebrafish)
DOID:0110146
  • Bartter disease type 4b
  • Aliases:
    • BARTS4B
    • Bartter syndrome, type 4b, digenic
    • neonatal Bartter syndrome type 4B with sensorineural deafness
Rattus norvegicus (Norway rat)
DOID:445
  • Bartter disease
  • Aliases:
    • Aldosteronism with hyperplasia of the adrenal cortex
    • Bartter's syndrome
Rattus norvegicus (Norway rat)
DOID:0110144
  • Bartter disease type 3
  • Aliases:
    • BARTS3
    • Bartter syndrome type 3
    • classic Bartter syndrome
Rattus norvegicus (Norway rat)
DOID:0110662
  • congenital myasthenic syndrome 1B
  • Aliases:
    • CMS1B
    • congenital myasthenic syndrome 1B, fast-channel
Rattus norvegicus (Norway rat)
DOID:0110663
  • congenital myasthenic syndrome 1A
  • Aliases:
    • CMS IIa
    • CMS1A
    • congenital myasthenic syndrome 1A, slow-channel
    • congenital myasthenic syndrome type IIa
Rattus norvegicus (Norway rat)
DOID:1405
  • primary angle-closure glaucoma
  • Aliases:
    • primary Angle Closure Glaucoma
Rattus norvegicus (Norway rat)
DOID:1540
  • parathyroid carcinoma
  • Aliases:
    • Parathyroid gland neoplasm
    • carcinoma of Parathyroid gland
    • malignant neoplasm of parathyroid gland
    • malignant neoplasm of the Parathyroid
    • malignant tumor of parathyroid gland
    • neoplasm of parathyroid gland
    • parathyroid gland cancer
    • parathyroid neoplasm
Homo sapiens (human)
DOID:0080786
  • Brown-Vialetto-Van Laere syndrome 2
Homo sapiens (human)
DOID:0110989
  • Joubert syndrome 20
  • Aliases:
    • JBTS20
Homo sapiens (human)
DOID:4501
  • orofaciodigital syndrome
  • Aliases:
    • oral-facial-digital syndrome
Homo sapiens (human)
DOID:0110982
  • Joubert syndrome 13
  • Aliases:
    • JBTS13
Homo sapiens (human)
DOID:0080586
  • Van Maldergem syndrome 2
Homo sapiens (human)
DOID:0080568
  • congenital disorder of glycosylation Iq
  • Aliases:
    • congenital disorder of glycosylation 1q
Homo sapiens (human)
DOID:0050807
  • Kahrizi syndrome
  • Aliases:
    • KHRZ
    • intellectual disability, Kahrizi type
    • intellectual disability-cataract-coloboma-kyphosis syndrome
Homo sapiens (human)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Danio rerio (zebrafish)
DOID:0111506
  • palmoplantar keratoderma-esophageal carcinoma syndrome
  • Aliases:
    • Bennion-Patterson syndrome
    • Howell-Evans syndrome
    • TOC
    • keratosis palmaris et plantaris with esophageal cancer
    • keratosis palmoplantaris-esophageal carcinoma syndrome
    • palmoplantar hyperkeratosis-esophageal carcinoma syndrome
    • palmoplantar keratoderma with esophageal cancer
    • tylosis with esophageal cancer
    • tylosis-oesophageal carcinoma syndrome
Homo sapiens (human)
DOID:0110087
  • asphyxiating thoracic dystrophy 3
  • Aliases:
    • ATD3
    • SRPS1
    • SRPS2B
    • SRPS3
    • SRTD3
    • Saldino-Noonan syndrome
    • Verma-Naumoff syndrome
    • polydactyly with neonatal chondrodystrophy, type I
    • polydactyly with neonatal chondrodystrophy, type III
    • short rib-polydactyly syndrome, type I
    • short rib-polydactyly syndrome, type IIB
    • short-rib thoracic dysplasia 3 with or without polydactyly
Homo sapiens (human)
DOID:0081111
  • osteosclerotic metaphyseal dysplasia
Homo sapiens (human)
DOID:0112315
  • brain small vessel disease 3
  • Aliases:
    • BSVD3
Homo sapiens (human)
DOID:0111094
  • Fanconi anemia complementation group N
  • Aliases:
    • FANCN
Homo sapiens (human)
DOID:0111641
  • autosomal recessive nonsyndromic deafness 94
  • Aliases:
    • DFNB94
    • autosomal recessive deafness 94
Homo sapiens (human)
DOID:0111485
  • combined oxidative phosphorylation deficiency 24
  • Aliases:
    • COXPD24
Homo sapiens (human)
DOID:14735
  • hereditary angioedema
  • Aliases:
    • HANE
    • Hereditary angioneurotic edema
Danio rerio (zebrafish)
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Last updated: December 9, 2024