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 2826 - 2850 of 4621 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
DOID:0111169
  • subcortical band heterotopia
  • Aliases:
    • HeCo
    • band heterotopia
    • double cortex syndrome
    • heterotopic cortex
    • subcortical laminar heterotopia
Homo sapiens (human)
DOID:0111168
  • sepiapterin reductase deficiency
  • Aliases:
    • DRD due to SRD
    • SPR deficiency
    • SRD
    • dopa-responsive dystonia due to sepiapterin reductase deficiency
Homo sapiens (human)
DOID:0111167
  • Dyggve-Melchior-Clausen disease
  • Aliases:
    • DMC disease
    • pseudo-Morquio disease type I
Homo sapiens (human)
DOID:0111164
  • molybdenum cofactor deficiency type A
  • Aliases:
    • MOCOD type A
    • MOCODA
    • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
    • molybdenum cofactor deficiency complementation group A
Homo sapiens (human)
DOID:0111162
  • epidermal nevus
  • Aliases:
    • nonepidermolytic keratinocytic nevus
Homo sapiens (human)
DOID:0111158
  • SADDAN
  • Aliases:
    • SADDAN dysplasia
    • severe achondroplasia with developmental delay and acanthosis nigricans
Homo sapiens (human)
DOID:0111157
  • Castleman disease
  • Aliases:
    • angiofollicular lymph hyperplasia
    • angiofollicular lymph node hyperplasia
    • giant lymph node hyperplasia
    • lymphoid hamartoma
Homo sapiens (human)
DOID:0111156
  • spermatogenic failure 9
  • Aliases:
    • globozoospermia
    • male infertility due to round-headed spermatozoa
Homo sapiens (human)
DOID:0111154
  • postural orthostatic tachycardia syndrome
  • Aliases:
    • familial orthostatic tachycardia due to norepinephrine transporter deficiency
    • irritable heart
    • mitral valve prolapse syndrome
    • orhtostatic intolerance
    • orthostatic intolerance due to NET deficiency
    • postural tachycardia syndrome due to NET deficiency
    • soldiers heart
Homo sapiens (human)
DOID:0111152
  • multicentric Castleman disease
  • Aliases:
    • MCD
    • PMCD
    • multicentric giant lymph node hyperplasia
    • plasmablastic multicentric Castleman disease
Homo sapiens (human)
DOID:0111151
  • Prinzmetal angina
  • Aliases:
    • Prinzmetal's angina
    • Prinzmetal's variant angina
    • angina inversa
    • variant angina
    • variant angina pectoris
Homo sapiens (human)
DOID:0111148
  • isolated ectopia lentis
  • Aliases:
    • IEL
    • familial ectopia lentis
Homo sapiens (human)
DOID:0111147
  • angioimmunoblastic T-cell lymphoma
Homo sapiens (human)
DOID:0111146
  • acquired von Willebrand syndrome
  • Aliases:
    • AVWS
Homo sapiens (human)
DOID:0111141
  • delayed sleep phase syndrome
  • Aliases:
    • DSPD
Homo sapiens (human)
DOID:0111140
  • IGSF1 deficiency syndrome
  • Aliases:
    • CHTE
    • X-linked central congenital hypothyroidism with late-onset macroorchidism
    • X-linked central congenital hypothyroidism with late-onset testicular enlargement
    • central hypothyroidism and testicular enlargement
Homo sapiens (human)
DOID:0111138
  • congenital generalized lipodystrophy type 4
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
    • congenital generalised lipodystrophy type 4
    • generalised congenital lipodystrophy type 4
    • generalised congenital lipodystrophy with myopathy
    • generalized congenital lipodystrophy type 4
    • generalized congenital lipodystrophy with myopathy
Homo sapiens (human)
DOID:0111137
  • congenital generalized lipodystrophy type 3
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 3
Homo sapiens (human)
DOID:0111136
  • congenital generalized lipodystrophy type 2
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 2
    • Berardinelli-Seip syndrome
    • Brunzell syndrome BSCL2-related
    • CGL2
    • congenital lipoatrophic diabetes
    • total lipodystrophy and acromegaloid gigantism
Homo sapiens (human)
DOID:0111135
  • congenital generalized lipodystrophy type 1
  • Aliases:
    • Berardinelli-Seip Congenital Lipodystrophy, Type 1
    • Brunzell syndrome AGPAT2-related
Homo sapiens (human)
DOID:0111134
  • focal segmental glomerulosclerosis 9
  • Aliases:
    • FSGS9
Homo sapiens (human)
DOID:0111133
  • focal segmental glomerulosclerosis 8
  • Aliases:
    • FSGS8
Homo sapiens (human)
DOID:0111132
  • focal segmental glomerulosclerosis 7
  • Aliases:
    • FSGS7
Homo sapiens (human)
DOID:0111131
  • focal segmental glomerulosclerosis 6
  • Aliases:
    • FSGS6
Homo sapiens (human)
DOID:0111130
  • focal segmental glomerulosclerosis 5
  • Aliases:
    • FSGS5
Homo sapiens (human)

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Last updated: August 19, 2024