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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 **15676 - 15700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:9263	homocystinuria Aliases: CBS deficiency cystathionine beta synthase deficiency cystathionine synthase deficiency	CBS	875	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111020	cone-rod dystrophy 9 Aliases: CORD9	ADAM9	8754	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110587	autosomal dominant nonsyndromic deafness 66 Aliases: DFNA66 autosomal dominant deafness 66	CD164	8763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081365	Paget's disease of bone 2 Aliases: Paget disease of bone-2	TNFRSF11A	8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111542	familial expansile osteolysis Aliases: FEO McCabe disease hereditary expansile polyostotic osteolytic dysplasia	TNFRSF11A	8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110946	autosomal recessive osteopetrosis 7 Aliases: OPTB7 autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis-hypogammaglobulinemia syndrome	TNFRSF11A	8792	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081274	peroxisome biogenesis disorder 14B	PEX11B	8799	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110428	dilated cardiomyopathy 1AA Aliases: CMD1AA dilated cardiomyopathy 1AA with or without left ventricular noncompaction	ACTN2	88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081342	congenital myopathy 8	ACTN2	88	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080128	mitochondrial DNA depletion syndrome 9 Aliases: fatal infantile lactic acidosis	SUCLG1	8802	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080124	mitochondrial DNA depletion syndrome 5 Aliases: succinate-CoA ligase deficiency	SUCLA2	8803	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	DPM1	8813	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080571	congenital disorder of glycosylation Iu Aliases: congenital disorder of glycosylation 1u	DPM2	8818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090082	hypogonadotropic hypogonadism 20 with or without anosmia	FGF17	8822	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111813	syndactyly type 8 Aliases: fusion of metacarpals 4 and 5 metacarpal 4-5 fusion	FGF16	8823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070035	autosomal dominant intellectual developmental disorder 5 Aliases: MRD5 autosomal dominant mental retardation 5 autosomal dominant non-syndromic intellectual disability 5	SYNGAP1	8831	Homo sapiens (human)	Alliance of Genome Resources
DOID:4680	breast metaplastic carcinoma Aliases: Metaplastic carcinoma of the breast	CCN6	8838	Homo sapiens (human)	Alliance of Genome Resources
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	CCN6	8838	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090004	progressive pseudorheumatoid arthropathy of childhood Aliases: spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome	CCN6	8838	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070227	intrahepatic cholestasis of pregnancy Aliases: ICP gravidic intrahepatic cholestasis pregnancy related cholestasis recurrent intrahepatic cholestasis of pregnancy	HDAC3	8841	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110376	retinitis pigmentosa 41 Aliases: RP41	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111019	cone-rod dystrophy 12 Aliases: CORD12	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070517	retinal macular dystrophy 2 Aliases: MCDR2	PROM1	8842	Homo sapiens (human)	Alliance of Genome Resources
DOID:9467	nail-patella syndrome Aliases: Fong disease Turner-Kiser syndrome hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome	LDB1	8861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	PER2 PER3 TIMELESS	8863 8864 8914	Homo sapiens (human)	Alliance of Genome Resources

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