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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 **201 - 225** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080946	retinal dystrophy with leukodystrophy Aliases: ACBD5 deficiency	ACBD5	91452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111741	X-linked deafness 5 Aliases: AUNX1 DFNX5 X-linked HSAN with deafness X-linked auditory neuropathy 1 with peripheral sensory neuropathy X-linked auditory neuropathy with peripheral sensory neuropathy type 1	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111502	combined oxidative phosphorylation deficiency 6 Aliases: COXPD6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 severe X-linked mitochondrial encephalomyopathy	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110212	Charcot-Marie-Tooth disease X-linked recessive 4 Aliases: CMT4X CMTX4 Charcot-Marie-Tooth disease with deafness and mental retardation Cowchock syndrome NADMR NAMSD X-linked Charcot-Marie-Tooth disease type 4 axonal motor sensory neuropathy with deafness and mental retardation	AIFM1	9131	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110356	retinitis pigmentosa 18 Aliases: RP18	PRPF3	9129	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110392	retinitis pigmentosa 70 Aliases: RP70	PRPF4	9128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080507	Cornelia de Lange syndrome 3 Aliases: CDLS3 Cornelia De Lange syndrome 3 with or without midline brain defects	SMC3	9126	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111699	Van den Ende-Gupta syndrome Aliases: Marden-Walker-like syndrome Marden-Walker-like syndrome without psychmotor retardation VDEGS blepharophimosis, arachnodactyly, and congenital contractures	SCARF2	91179	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111118	nephronophthisis 11 Aliases: NPHP11	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1088	meningocele	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111001	Joubert syndrome 6 Aliases: JBTS6	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111589	COACH syndrome Aliases: Gentile syndrome JS-H Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1573	communicating hydrocephalus	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110345	osteogenesis imperfecta type 16 Aliases: OI16 chromosome 11p11.2 deletion syndrome 91.3-KB osteogenesis imperfecta type XVI	CREB3L1	90993	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4 Aliases: DEE77 GPIBD19 MCAHS4 developmental and epileptic encephalopathy 77 early infantile epileptic encephalopathy 77 glycosylphosphatidylinositol biosynthesis defect 19	PIGQ	9091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112162	autosomal recessive nonsyndromic deafness 116 Aliases: DFNB116	CLDN9	9080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110169	Charcot-Marie-Tooth disease axonal type 2P Aliases: CMT2P Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth neuropathy type 2P	LRSAM1	90678	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111758	Y-linked deafness 2 Aliases: DFNY2	TBL1Y	90665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type Aliases: spondyloepimetaphyseal dysplasia Pakistani type	PAPSS2	9060	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0060439	lysinuric protein intolerance Aliases: LPI dibasic amino aciduria II hyperdibasic aminoaciduria	SLC7A7	9056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070425	combined oxidative phosphorylation deficiency 52 Aliases: COXPD52	NFS1	9054	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080519	PAPA syndrome Aliases: pyogenic arthritis, pyoderma gangrenosum and acne	PSTPIP1	9051	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080163	otulipenia Aliases: autoinflammation, panniculitis and dermatosis syndrome otulin-related autoinflammatory syndrome	OTULIN	90268	Homo sapiens (human)	Alliance of Genome Resources

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