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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 **5201 - 5225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0090030	corticosteroid-binding globulin deficiency Aliases: CBG deficiency transcortin deficiency	SERPINA6	866	Homo sapiens (human)	Alliance of Genome Resources
DOID:13372	alpha 1-antitrypsin deficiency Aliases: AAT deficiency	SERPINA12 SERPINA1 SERPINB1 SERPINC1 SERPINE2 SERPINI1 SERPINI2 SYVN1	145264 1992 462 5265 5270 5274 5276 84447	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060186	chemical colitis	SERPINA1	5265	Homo sapiens (human)	Alliance of Genome Resources
DOID:3689	brachial plexus neuritis Aliases: Brachial neuritis Parsonage-Aldren-Turner syndrome	SEPTIN9	10801	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060269	pontocerebellar hypoplasia type 2C	SEN34	851267	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110357	retinitis pigmentosa 35 Aliases: RP35	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111017	cone-rod dystrophy 10 Aliases: CORD10	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090080	hypogonadotropic hypogonadism 16 with or without anosmia	SEMA3A	10371	Homo sapiens (human)	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	57190	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112349	hereditary spastic paraplegia 81 Aliases: SPG81 autosomal recessive complex SPG due to Kennedy pathway dysfunction autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction spastic paraplegia 81 autosomal recessive	SELENOI	85465	Homo sapiens (human)	Alliance of Genome Resources
DOID:50	thyroid gland disease	SECISBP2	79048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080552	congenital disorder of glycosylation Ia Aliases: PMM2-congenital disorder of glycosylation congenital disorder of glycosylation 1a	SEC53	850499	Saccharomyces cerevisiae S288C	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	22872	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070539	Halperin-Birk syndrome Aliases: HLBKS NEDSOSB NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES	SEC31	851332	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081003	Cowden syndrome 7	SEC23B	10483	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111397	congenital dyserythropoietic anemia type Ib Aliases: CDA, type Ib CDAN1B	SEC23B	10483	Homo sapiens (human)	Glyco-Disease Genes Database
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	10483 10484	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0070307	craniolenticulosutural dysplasia Aliases: Boyadjiev-Jabs Syndrome cranio-lenticulo-sutural dysplasia, CLSD	SEC23A SEC23B	10483 10484	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050577	cranioectodermal dysplasia Aliases: Levin syndrome Sensenbrenner syndrome	SEC12	855760	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0080257	autosomal recessive congenital ichthyosis 13	SDR9C7	121214	Homo sapiens (human)	Alliance of Genome Resources
DOID:890	mitochondrial encephalomyopathy	SDHB TYMP VARS1	1890 6390 7407	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080533	Carney-Stratakis syndrome	SDHB SDHC SDHD	6390 6391 6392	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110435	dilated cardiomyopathy 1GG Aliases: CMD1GG	SDHA	6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060537	mitochondrial complex II deficiency Aliases: isolated mitochondrial respiratory chain complex II deficiency isolated succinate-CoQ reductase deficiency isolated succinate-coenzyme Q reductase deficiency isolated succinate-ubiquinone reductase deficiency	SDHA SDHB SDHD	6389 6390 6392	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080980	arthrogryposis multiplex congenita-4 Aliases: Zain syndrome	SCYL2	55681	Homo sapiens (human)	Alliance of Genome Resources

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