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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 **11226 - 11250** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:890	mitochondrial encephalomyopathy	Sdhb Tymp	298596 315219	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080533	Carney-Stratakis syndrome	Sdhb	298596	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080533	Carney-Stratakis syndrome	Sdhc	66052	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070307	craniolenticulosutural dysplasia Aliases: Boyadjiev-Jabs Syndrome cranio-lenticulo-sutural dysplasia, CLSD	Sec23a Sec23b	20334 27054	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5325	Roberts syndrome Aliases: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE RBS Roberts-Sc Phocomelia Syndrome SC phocomelia syndrome	Sec23a Sec23b	20334 27054	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111401	congenital dyserythropoietic anemia type II Aliases: CDA II CDA type 2 CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2 Congenital dyserythropoietic anemia type 2 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) SEC23B-CDG congenital dyserythropoietic anaemia type II	Sec23a Sec23b	20334 27054	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081003	Cowden syndrome 7	Sec23b	27054	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110806	hereditary spastic paraplegia 54 Aliases: SPG54 autosomal recessive spastic paraplegia 54 autosomal recessive spastic paraplegia type 54	Sec23ip	309010	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110779	hereditary spastic paraplegia 28 Aliases: SPG28 autosomal recessive spastic paraplegia 28 autosomal recessive spastic paraplegia type 28	Sec23ip	309010	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060438	Cole-Carpenter syndrome	Sec24d	69608	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070539	Halperin-Birk syndrome Aliases: HLBKS NEDSOSB NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES	Sec31a Sec31b	240667 69162	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110633	rigid spine muscular dystrophy 1 Aliases: Eichsfeld type congenital muscular dystrophy MDRS1 RSMD1 RSS SEPN1-related myopathy classic MmD classic multiminicore disease classic multiminicore myopathy congenital merosin-positive muscular dystrophy with early spine rigidity desmin-related myopathy with Mallory bodies desmin-related myopathy with Mallory body-like inclusions early-onset desmin-related myopathy rigid spine syndrome severe classic form minicore myopathy severe classic form multicore myopathy severe classic form multiminicore disease	Selenon	74777	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050860	colorectal adenoma	Selenop Tnfrsf1a Ttr	24856 25625 29360	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:891	progressive myoclonus epilepsy Aliases: PME progressive myoclonic epilepsy	Sema1b Sema2b	246538 37007	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0050834	CHARGE syndrome Aliases: CHARGE association	Sema2a Sema2b kis	246538 33185 36846	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	Sema2a Sema2b	246538 36846	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	Sema3a	20346	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	Sema3a	29751	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110357	retinitis pigmentosa 35 Aliases: RP35	Sema4a	20351	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111017	cone-rod dystrophy 10 Aliases: CORD10	Sema4a	20351	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070221	progressive familial intrahepatic cholestasis Aliases: PFIC; Byler disease	Sema7a	315711	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	Septin9	53860	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:6419	tetralogy of Fallot Aliases: Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle	Ser ph-p	31181 43275	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9007	sudden infant death syndrome Aliases: Cot death Crib death SIDS Sudden death of nonspecific cause in infancy	SerT para	32619 37895	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060131	alexithymia	SerT	37895	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources

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