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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 **7376 - 7400** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0090027	split hand-foot malformation 2 Aliases: SHFM2	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0090025	split hand-foot malformation 3 Aliases: SHFM3 chromosome 10q24 duplication syndrome distal limb deficiencies with micrognathia	QTRT1 UGT8	7368 81890	Homo sapiens (human)
DOID:0060062	familial juvenile hyperuricemic nephropathy	UMOD	7369	Homo sapiens (human)
DOID:9643	babesiosis Aliases: Babesiasis Infection by babesia piroplasmosis	UMOD	7369	Homo sapiens (human)
DOID:1342	congenital hypoplastic anemia Aliases: congenital aplastic anaemia congenital aplastic anemia congenital hypoplastic anaemia	CD38 LPIN2 UMPS	7372 952 9663	Homo sapiens (human)
DOID:1339	Diamond-Blackfan anemia Aliases: Blackfan - Diamond syndrome chronic constitutional pure red cell anaemia	CD38 LPIN2 UMPS	7372 952 9663	Homo sapiens (human)
DOID:0050833	orotic aciduria	UMPS	7372	Homo sapiens (human)
DOID:11702	dysgammaglobulinemia	UNG	7374	Homo sapiens (human)
DOID:0060759	immunodeficiency with hyper IgM type 5 Aliases: HIGM5 hyper-IgM syndrome 5 hyper-IgM syndrome due to UNG deficiency hyper-IgM syndrome due to uracil N-glycosylase	UNG	7374	Homo sapiens (human)
DOID:0060758	immunodeficiency with hyper-IgM type 2 Aliases: AID deficiency HIGM2 activation-induced cytidine deaminase deficiency hyper-IgM syndrome type 2	UNG	7374	Homo sapiens (human)
DOID:13268	porphyria Aliases: Hematoporphyria Porphyrinopathy disorder of porphyrin and hem metabolism disorder of porphyrin metabolism	Gbe1	74185	Mus musculus (house mouse)
DOID:2750	glycogen storage disease IV Aliases: Amylopectinosis Branching-transferase deficiency glycogenosis Glycogen storage disease 4 Glycogen storage disease, type IV brancher deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme	Gbe1	74185	Mus musculus (house mouse)
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	Gale	74246	Mus musculus (house mouse)
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	Pomk	74653	Mus musculus (house mouse)
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	Pomk	74653	Mus musculus (house mouse)
DOID:0080941	acquired angioedema	XPNPEP2	7512	Homo sapiens (human)
DOID:0110404	retinitis pigmentosa 17 Aliases: RP17	CA4	762	Homo sapiens (human)
DOID:4051	alveolar rhabdomyosarcoma Aliases: alveolar childhood rhabdomyosarcoma	foxo1a	768121	Danio rerio (zebrafish)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	pofut2	777668	Danio rerio (zebrafish)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	pofut2	779585	Xenopus tropicalis (tropical clawed frog)
DOID:13276	Mycoplasma pneumoniae pneumonia Aliases: Mycoplasma pneumonia Mycoplasmal pneumonia Pneumonia due to Eaton's agent Pneumonia due to Mycoplasma pneumoniae Pneumonia due to Mycoplasma pneumoniae (disorder) cold agglutinin positive pneumonia	galc	779723	Xenopus tropicalis (tropical clawed frog)
DOID:10587	Krabbe disease Aliases: Diffuse globoid body sclerosis GLOBOID CELL LEUKOENCEPHALOPATHY Galactosylceramide beta-galactosidase deficiency Krabbe's disease Krabbe's leukodystrophy beta galactocerebrosidase deficiency globoid cell leukodystrophy	galc	779723	Xenopus tropicalis (tropical clawed frog)
DOID:11949	Creutzfeldt-Jakob disease Aliases: CJD Creutzfeldt Jacob syndrome Creutzfeldt Jakob disease Creutzfeldt-Jacob disease Jakob-Creutzfeldt disease Subacute spongiform encephalopathy Transmissible virus dementia	galc	779723	Xenopus tropicalis (tropical clawed frog)
DOID:1909	melanoma Aliases: Naevocarcinoma malignant melanoma	galc	779723	Xenopus tropicalis (tropical clawed frog)
DOID:0080201	Peters plus syndrome Aliases: Krause-Kivlin syndrome Peters anomaly-short limb dwarfism syndrome Peters-plus syndrome	b3glct	780006	Xenopus tropicalis (tropical clawed frog)

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