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 1101 - 1125 of 4621 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0090080
  • hypogonadotropic hypogonadism 16 with or without anosmia
Homo sapiens (human)
DOID:0090081
  • hypogonadotropic hypogonadism 22 with or without anosmia
Homo sapiens (human)
DOID:0090082
  • hypogonadotropic hypogonadism 20 with or without anosmia
Homo sapiens (human)
DOID:0090083
  • hypogonadotropic hypogonadism 2 with or without anosmia
Homo sapiens (human)
DOID:0090084
  • hypogonadotropic hypogonadism 5 with or without anosmia
Homo sapiens (human)
DOID:0090085
  • hypogonadotropic hypogonadism 9 with or without anosmia
Homo sapiens (human)
DOID:0090086
  • hypogonadotropic hypogonadism 6 with or without anosmia
Homo sapiens (human)
DOID:0090087
  • hypogonadotropic hypogonadism 14 with or without anosmia
Homo sapiens (human)
DOID:0090088
  • hypogonadotropic hypogonadism 24 without anosmia
  • Aliases:
    • isolated follicle-stimulating hormone deficiency
Homo sapiens (human)
DOID:0090089
  • hypogonadotropic hypogonadism 10 with or without anosmia
Homo sapiens (human)
DOID:0090090
  • hypogonadotropic hypogonadism 19 with or without anosmia
Homo sapiens (human)
DOID:0090091
  • hypogonadotropic hypogonadism 23 with or without anosmia
  • Aliases:
    • 46,XY DSD due to LHB deficiency
    • 46,XY DSD due to luteinizing hormone subunit beta deficiency
    • 46,XY disorder of sex development due to LHB deficiency
    • 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
    • Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
    • Pasqualini syndrome
    • fertile eunuch syndrome
    • leydig cell hypoplasia due to LHB deficiency
Homo sapiens (human)
DOID:0090092
  • hypogonadotropic hypogonadism 3 with or without anosmia
Homo sapiens (human)
DOID:0090093
  • hypogonadotropic hypogonadism 21 with or without anosmia
Homo sapiens (human)
DOID:0090094
  • hypogonadotropic hypogonadism 1 with or without anosmia
  • Aliases:
    • dysplasia olfactogenitalis of de morsier
Homo sapiens (human)
DOID:0090100
  • ocular albinism with sensorineural deafness
  • Aliases:
    • WS2-OA
    • autosomal recessive Waardenburg syndrome type 2 with ocular albinism
    • digenic Waardenburg syndrome/albinism
    • digenic Waardenburg syndrome/ocular albinism
Homo sapiens (human)
DOID:0090101
  • lethal congenital glycogen storage disease of heart
  • Aliases:
    • fatal congenital hypertrophic cardiomyopathy due to GSD
    • fatal congenital hypertrophic cardiomyopathy due to glycogenosis
    • fatal congenital nonlysosomal cardiac glycogenosis
    • phosphorylase kinase deficiency of heart
Homo sapiens (human)
DOID:0090103
  • Huntington's disease-like 1
  • Aliases:
    • HDL1
    • HLN1
    • Huntington disease-like 1
    • Huntington-like neurodegenerative disorder 1
    • autosomal dominant Huntington-like neurodegenerative disorder
    • early-onset prion disease with prominent psychiatric features
Homo sapiens (human)
DOID:0090104
  • Huntington's disease-like 2
  • Aliases:
    • HDL2
    • Huntington disease-like 2
Homo sapiens (human)
DOID:0090105
  • autosomal recessive hypercholesterolemia
  • Aliases:
    • ARH
    • ARH1
    • ARH2
    • FHCB1
    • FHCB2
    • autosomal recessive hypercholesterolemia 1
    • autosomal recessive hypercholesterolemia 2
    • familial autosomal recessive hypercholesterolemia
Homo sapiens (human)
DOID:0090107
  • autosomal dominant hypocalcemia 1
  • Aliases:
    • HYPOC1
Homo sapiens (human)
DOID:0090109
  • autosomal dominant hypocalcemia
  • Aliases:
    • HYPOC
Homo sapiens (human)
DOID:0090110
  • immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
  • Aliases:
    • Autoimmune enteropathy type 1
    • DMSD
    • IDDM-secretory diarrhea syndrome
    • IPEX
    • X-linked autoimmunity-allergic dysregulation syndrome
    • XLAAD
    • XPID
    • autoimmunity-immunodeficiency syndrome, X-linked
    • diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
    • diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
    • immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
    • immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked
Homo sapiens (human)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Homo sapiens (human)
DOID:0090114
  • Sorsby's fundus dystrophy
  • Aliases:
    • SFD
    • hemorrhagic macular dystrophy
    • pseudoinflammatory fundus dystrophy of Sorsby
Homo sapiens (human)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024