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 July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4876 - 4900 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0060875
  • isolated growth hormone deficiency type III
  • Aliases:
    • Fleisher syndrome
    • IGHD III
    • X-linked IGHD
    • X-linked agammaglobulinemia and isolated growth hormone deficiency
    • X-linked hypogammaglobulinemia and isolated growth hormone deficiency
    • X-linked isolated growth hormone deficiency
    • congenital IGHD type III
    • congenital isolated GH deficiency type III
    • congenital isolated growth hormone deficiency type III
    • growth hormone deficiency with hypogammaglobulinemia
Homo sapiens (human)
DOID:0110845
  • xeroderma pigmentosum group D
  • Aliases:
    • XP group D
    • XP group H
    • XP4
    • XP8
    • XPD
    • XPDC
    • XPH
    • xeroderma pigmentosum IV
    • xeroderma pigmentosum VIII
Homo sapiens (human)
DOID:2485
  • phosphorus metabolism disease
  • Aliases:
    • Phosphorus disorder
    • disorder of phosphorus metabolism
    • phosphorus metabolism disorder
Homo sapiens (human)
DOID:0060767
  • autosomal dominant Robinow syndrome 3
  • Aliases:
    • DRS3
Homo sapiens (human)
DOID:381
  • arthropathy
  • Aliases:
    • Ankylosis of joint of ankle and/or foot
    • Ankylosis of joint of forearm
    • Ankylosis of joint of hand
    • Ankylosis of joint of lower leg
    • Ankylosis of joint of upper arm
    • Ankylosis of multiple joints
    • Infectious arthropathy
    • Joint ankylosis of the ankle and foot
    • Joint ankylosis of the ankle and/or foot
    • Joint ankylosis of the forearm
    • Joint ankylosis of the hand
    • Joint ankylosis of the lower leg
    • Joint ankylosis of the pelvic region and thigh
    • Joint ankylosis of the shoulder region
    • Joint ankylosis of the upper arm
    • ankylosis of ankle and foot joint
    • ankylosis of forearm joint
    • ankylosis of hand joint
    • ankylosis of joint of multiple sites
    • ankylosis of joint of pelvic region and thigh
    • ankylosis of joint of shoulder region
    • ankylosis of lower leg joint
    • ankylosis of upper arm joint
Homo sapiens (human)
DOID:0070395
  • developmental and epileptic encephalopathy 110
  • Aliases:
    • DEE110
    • early infantile epileptic encephalopathy 110
Homo sapiens (human)
DOID:0111422
  • familial lipase maturation factor 1 deficiency
  • Aliases:
    • LPL and HL deficiency
    • LPL and HTGL deficiency
    • combined lipase deficiency
    • familial LMF1 deficiency
    • lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
Homo sapiens (human)
DOID:0111458
  • galactose epimerase deficiency
  • Aliases:
    • GALE deficiency
    • GALE-D
    • UDP-galactose-4-epimerase deficiency
    • epimerase deficiency galactosemia
    • galactosemia III
    • galactosemia type 3
    • uridine diphosphate galactose-4-epimerase deficiency
Homo sapiens (human)
DOID:0080176
  • meningococcal meningitis
Homo sapiens (human)
DOID:0110846
  • xeroderma pigmentosum group E
  • Aliases:
    • XP group E
    • XP5
    • XPE
    • xeroderma pigmentosum V
Homo sapiens (human)
DOID:3540
  • choroid plexus cancer
  • Aliases:
    • tumor of choroid plexus
    • tumor of the Choroid Plexus
Homo sapiens (human)
DOID:2526
  • prostate adenocarcinoma
Homo sapiens (human)
DOID:0110135
  • Bardet-Biedl syndrome 13
  • Aliases:
    • BBS13
Homo sapiens (human)
DOID:1580
  • diffuse scleroderma
  • Aliases:
    • diffuse systemic sclerosis
    • systemic sclerosis, diffuse
Homo sapiens (human)
DOID:14402
  • critical illness polyneuropathy
Homo sapiens (human)
DOID:0060870
  • isolated growth hormone deficiency
  • Aliases:
    • IGHD
    • congenital IGHD
    • congenital isolated GH deficiency
    • congenital isolated growth hormone deficiency
    • familial isolated growth hormone deficiency
    • non-acquired isolated growth hormone deficiency
Homo sapiens (human)
DOID:0070202
  • familial partial lipodystrophy type 2
  • Aliases:
    • FPLD2
    • familial lipodystrophy of limbs and lower trunk
    • familial partial lipodystrophy Dunnigan type
    • reverse partial lipodystrophy
Homo sapiens (human)
DOID:0110511
  • autosomal recessive nonsyndromic deafness 59
  • Aliases:
    • DFNB59
    • autosomal recessive deafness 59
Homo sapiens (human)
DOID:10487
  • Hirschsprung's disease
  • Aliases:
    • Hirschsprung disease
    • aganglionic megacolon
    • congenital megacolon
    • macrocolon
    • pelvirectal achalasia
    • total intestinal aganglionosis
Homo sapiens (human)
DOID:0110495
  • autosomal recessive nonsyndromic deafness 37
  • Aliases:
    • DFNB37
    • autosomal recessive deafness 37
Homo sapiens (human)
DOID:175
  • vascular cancer
  • Aliases:
    • Blood vessel tumor
    • Blood vessel tumors
    • Blood vessel tumour disorder
    • Haemangiomatous tumour
    • blood vessel neoplasm
    • leiomyosarcoma of the renal Vein
    • malignant great vessel tumor
    • malignant tumor of pulmonary Vein
    • malignant tumor of pulmonary artery
    • malignant vascular neoplasm
    • malignant vascular tumor
    • neoplasm of great vessel
    • pulmonary artery malignant neoplasm
    • pulmonary vein malignant neoplasm
    • renal vein leiomyosarcoma
    • vascular tissue neoplasm
    • vascular tumors
Homo sapiens (human)
DOID:7173
  • cloacogenic carcinoma
  • Aliases:
    • Cloacogenic anal carcinoma
Homo sapiens (human)
DOID:0110423
  • dilated cardiomyopathy 1C
  • Aliases:
    • CMDC1
    • dilated cardiomyopathy 1C with or without left ventricular noncompaction
Homo sapiens (human)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Homo sapiens (human)
DOID:0070129
  • autosomal recessive cutis laxa type IID
  • Aliases:
    • ARCL2D
Homo sapiens (human)

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Last updated: August 19, 2024