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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 **15726 - 15750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0112283	spondyloepiphyseal dysplasia Kondo-Fu type Aliases: SED with elevated blood lysosomal enzymes SEDKF	Mbtps1	89842	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:6683	X-linked Aarskog syndrome Aliases: Aarskog-Scott syndrome Greig's syndrome	FGD3	89846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110192	Charcot-Marie-Tooth disease type 4H Aliases: CMT4H Charcot-Marie-Tooth neuropathy type 4H autosomal recessive Charcot-Marie-Tooth disease type 4H autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H	FGD3	89846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070174	spermatogenic failure 17 Aliases: Male infertility due to oocyte activation failure SPGF17	PLCZ1	89869	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111729	familial episodic pain syndrome 1 Aliases: FEPS1	TRPA1	8989	Homo sapiens (human)	Alliance of Genome Resources
DOID:12720	cerebral atherosclerosis	KALRN	8997	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111843	Paganini-Miozzo syndrome Aliases: MRXSPM	HS6ST2	90161	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
DOID:0080519	PAPA syndrome Aliases: pyogenic arthritis, pyoderma gangrenosum and acne	PSTPIP1	9051	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:0060439	lysinuric protein intolerance Aliases: LPI dibasic amino aciduria II hyperdibasic aminoaciduria	SLC7A7	9056	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:0111758	Y-linked deafness 2 Aliases: DFNY2	TBL1Y	90665	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:0112162	autosomal recessive nonsyndromic deafness 116 Aliases: DFNB116	CLDN9	9080	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: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:0070117	Meckel syndrome 3 Aliases: MKS3 Meckel-Gruber syndrome, type 3	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1573	communicating hydrocephalus	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1088	meningocele	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111118	nephronophthisis 11 Aliases: NPHP11	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:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	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: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

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