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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 **4101 - 4125** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:13810	familial hypercholesterolemia Aliases: Fredrickson type IIa hyperlipoproteinemia Fredrickson type IIa lipidaemia familial hyperbetalipoproteinaemia familial hypercholesteremia hyperbetalipoproteinemia type II hyperlipidemia	mttp pon1	406207 447803	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080208	metabolic dysfunction-associated steatotic liver disease Aliases: MAFLD MASLD NAFLD metabolic dysfunction-associated fatty liver disease metabolic dysfunction-related steatotic liver disease metabolic-associated fatty liver disease non-alcoholic fatty liver disease nonalcoholic fatty liver disease	dgat2 foxo1a mttp pon1	406207 447803 565316 768121	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T Aliases: LGMD2T MDDGC14 muscular dystrophy limb-girdle type 2T muscular dystrophy-dystroglycanopathy (limb-girdle) type C14 muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related	Gmppb	40599	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0112377	muscular dystrophy-dystroglycanopathy type B14 Aliases: MDDGB14 congenital muscular dystrophy GMPPB-related	Gmppb	40599	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111233	congenital muscular dystrophy-dystroglycanopathy A14 Aliases: MDDGA14 Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14	Gmppb	40599	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:8545	malignant hyperthermia Aliases: anesthesia related hyperthermia malignant hyperpyrexia due to anesthesia	cacna1sa cacna1sb	405791 570683	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0081350	congenital myopathy 18	cacna1sa cacna1sb	405791 570683	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:14452	hypokalemic periodic paralysis Aliases: Hypokalemic familial periodic paralysis Periodic paralysis I Westphal disease familial hypokalemic periodic paralysis periodic hypokalemic paralysis	asic1a asic1b asic1c asic2 asic4a asic4b cacna1sa cacna1sb scn4aa scn4ab	405791 407667 407668 407669 407670 407672 564977 570683 572442 791696	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0112184	thyroid dyshormonogenesis 5 Aliases: TDH5 genetic defect in thyroid hormonogenesis 5	DUOXA2	405753	Homo sapiens (human)	Alliance of Genome Resources
DOID:13689	prostate calculus Aliases: Prostatic lithiasis Prostatic stone Stone of prostate calculus of prostate	LTF	4057	Homo sapiens (human)	Alliance of Genome Resources
DOID:574	peripheral nervous system disease	ARTN LTC4S TLR3	4056 7098 9048	Homo sapiens (human)	Alliance of Genome Resources
DOID:5602	T-cell adult acute lymphocytic leukemia Aliases: ATLL Acute Adult T-cell Leukemia-Lymphoma adult Precursor T Lymphoblastic Leukemia	Cont	40553	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111691	familial adult myoclonic epilepsy 5 Aliases: FAME5 FCMTE5 familial cortical myoclonic tremor and epilepsy 5	Cont	40553	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0080101	Compton-North congenital myopathy Aliases: congenital myopathy 12	Cont	40553	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090143	brachyolmia-amelogenesis imperfecta syndrome Aliases: DASS STHAG6 dental anomalies and short stature platyspondyly with amelogenesis imperfecta selective tooth agenesis 5	LTBP3	4054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111727	geleophysic dysplasia 3 Aliases: GPHYSD3	LTBP3	4054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060305	megalocornea Aliases: anterior megalophthalmos congenital anterior megalophthalmia	LTBP2	4053	Homo sapiens (human)	Alliance of Genome Resources
DOID:9155	mucocutaneous leishmaniasis Aliases: American cutaneous leishmaniasis American mucocutaneous leishmaniasis Cutaneous leishmaniasis, American Mucocutaneous leishmaniasis, American New World cutaneous leishmaniasis	LTA TNF	4049 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:4398	pustulosis of palm and sole Aliases: Acropustulosis Palmoplantar Pustulosis Pustular psoriasis of the palms and/or soles	LTA TNF	4049 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080736	Ehlers-Danlos syndrome musculocontractural type 1	chst14	404732	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0080950	alopecia-mental retardation syndrome 4	LSS	4047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110267	cataract 44 Aliases: CTRCT44 total early-onset cataract	LSS	4047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080582	hypotrichosis 14	LSS	4047	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111432	essential tremor 5 Aliases: ETM5 hereditary essential tremor 5	Ten-m	40464	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:10629	microphthalmia Aliases: microphthalmos simple microphthalmos	crim1 gdf6a	404210 566470	Danio rerio (zebrafish)	Alliance of Genome Resources

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