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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 **9151 - 9175** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:11633	thyroid hormone resistance syndrome Aliases: Generalized thyroid hormone resistance Refetoff syndrome Thyroid hormone responsiveness defect thyroid hormone resistance	NCOA1 THRA	7067 8648	Homo sapiens (human)	Alliance of Genome Resources
DOID:14504	Niemann-Pick disease Aliases: Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis	NCR1 PPN1	852063 856101	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0070113	Niemann-Pick disease type C1 Aliases: NPC1	NCR1	856101	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:705	Leber hereditary optic neuropathy Aliases: Leber's hereditary optic neuropathy Leber's optic atrophy	ND4 Sod2 Tp53	24787 24842 26201	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	ND5	17721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	ND5	4540	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090070	hypogonadotropic hypogonadism Aliases: congenital idiopathic hypogonadotropic hypogonadism hypogonadotropism isolated congenital gonadotropin deficiency	NDNF TCF12	6938 79625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110186	Charcot-Marie-Tooth disease type 4D Aliases: CMT4D Charcot-Marie-Tooth neuropathy type 4D HMSN Lom type HMSN-Lom HMSN4D HMSNL autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D hereditary motor and sensory neuropathy LOM type	NDRG1	10397	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081210	autosomal recessive intellectual developmental disorder 46	NDST1	3340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112075	nuclear type mitochondrial complex I deficiency 10 Aliases: MC1DN10	NDUFAF2	91942	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112091	nuclear type mitochondrial complex I deficiency 34 Aliases: MC1DN34	NDUFAF8	284184	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111876	linear skin defects with multiple congenital anomalies 3 Aliases: LSDMCA3 linear skin defects with cardiomyopathy and other congenital anomalies	NDUFB11	54539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112098	nuclear type mitochondrial complex I deficiency 30 Aliases: MC1DN30	NDUFB11	54539	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112080	nuclear type mitochondrial complex I deficiency 32 Aliases: MC1DN32	NDUFB8	4714	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112068	nuclear type mitochondrial complex I deficiency 5 Aliases: MC1DN5	NDUFS1	4719	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112081	nuclear type mitochondrial complex I deficiency 8 Aliases: MC1DN8	NDUFS3	4722	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110928	nemaline myopathy 2 Aliases: NEM2 congenital myopathy 2 nemaline myopathy 2, autosomal recessive	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070336	arthrogryposis multiplex congenita-6	NEB	4703	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080443	developmental and epileptic encephalopathy 21 Aliases: DEE21 early infantile epileptic encephalopathy 21	NECAP1	25977	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060773	cleft lip-palate-ectodermal dysplasia syndrome Aliases: CLPED1 Margarita type of ectodermal dysplasia Zlotogora-Zilberman-Tenenbaum syndrome cleft lip/palate-syndactyly-pili torti syndrome syndactyly-ectodermal dysplasia-cleft/lip palate	NECTIN1	5818	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050477	Liddle syndrome Aliases: Liddle's syndrome Pseudoaldosteronism	NEDD4 NEDD4L SCNN1A SCNN1B SCNN1G WWP2	11060 23327 4734 6337 6338 6340	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110180	Charcot-Marie-Tooth disease axonal type 2CC Aliases: CMT2CC Charcot-Marie-Tooth neuropathy type 2CC	NEFH	4744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0040089	autoimmune optic neuritis	NEFH	4744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050433	fatal familial insomnia	NEFL PRNP	4747 5621	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110165	Charcot-Marie-Tooth disease type 2E Aliases: CMT2E Charcot-Marie-Tooth neuropathy type 2E autosomal dominant Charcot-Marie-Tooth disease type 2E	NEFL	4747	Homo sapiens (human)	Alliance of Genome Resources

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