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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 **5676 - 5700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070098	oculocutaneous albinism type IV Aliases: OCA4	SLC45A2	51151	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112040	non-syndromic X-linked intellectual disability 100 Aliases: MRX100 X-linked mental retardation 100	KIF4A	24137	Homo sapiens (human)	Alliance of Genome Resources
DOID:2452	thrombophilia Aliases: hypercoagulability state	CD46 F2 FGA HLA-DQA1 PLG PROC SERPINA10 THBD	2147 2243 3117 4179 51156 5340 5624 7056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome Aliases: CACP CACP syndrome CAP syndrome Jacobs syndrome PAC syndrome arthropathy-camptodactyly syndrome camptodactyly-arthropathy-pericarditis syndrome congenital familial hypertrophic synovitis familial fibrosing serositis pericarditis-arthropathy-camptodactyly syndrome	PRG4	10216	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112038	non-syndromic X-linked intellectual disability 1 Aliases: MRX1 MRX18 MRX78 X-linked mental retardation 1 X-linked mental retardation 1/78 X-linked mental retardation 18 X-linked mental retardation 78	ALX4 ARX IQSEC2	170302 23096 60529	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080005	bone remodeling disease	IDH2	3418	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080943	46,XX sex reversal 5	NR2F2	7026	Homo sapiens (human)	Alliance of Genome Resources
DOID:12241	beta thalassemia	APOB APOE BCL11A CFB COL1A1 HBB HBS1L HFE HLA-DQB1 HP IGFBP3 IL1A IL6 PON1 TERT TNF	10767 1277 3043 3077 3119 3240 338 348 3486 3552 3569 53335 5444 629 7015 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:8649	tongue cancer Aliases: malignant neoplasm of tongue	FGFR3 RICTOR	2261 253260	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080773	delta beta-thalassemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111896	Diamond-Blackfan anemia 18 Aliases: DBA18 RPL18-related Diamond-Blackfan anemia	RPL18	6141	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070482	spinal neurofibromatosis Aliases: FNSF SNF familial spinal neurofibromatosis	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110567	autosomal dominant nonsyndromic deafness 41 Aliases: DFNA41 autosomal dominant deafness 41	P2RX2	22953	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110148	Charcot-Marie-Tooth disease type 1A Aliases: CMT1A Charcot-Marie-Tooth neuropathy type 1A HMSN1A autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A hereditary motor and sensory neuropathy 1A microduplication 17p12	PMP22	5376	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110435	dilated cardiomyopathy 1GG Aliases: CMD1GG	SDHA	6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060944	episodic kinesigenic dyskinesia 3	TMEM151A	256472	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060748	familial temporal lobe epilepsy 1 Aliases: ETL1 partial epilepsy with auditory features	LGI1	9211	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080470	developmental and epileptic encephalopathy 36 Aliases: congenital disorder of glycosylation, type Is early infantile epileptic encephalopathy 36	ALG13	79868	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:6726	fibrillary astrocytoma Aliases: Fibrillary Astrocytic tumors	KRAS	3845	Homo sapiens (human)	Alliance of Genome Resources
DOID:12662	paracoccidioidomycosis Aliases: Mucocutaneous-lymphangitic paracoccidioidomycosis paracoccidioidal mycosis	CFB HLA-DRB1 IL1RL1 TNF	3123 629 7124 9173	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	CHST3	9469	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:5845	anterolateral myocardial infarction	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080119	mitochondrial DNA depletion syndrome 1 Aliases: mitochondrial DNA depletion syndrome 1 (MNGIE type) mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related	TYMP	1890	Homo sapiens (human)	Alliance of Genome Resources
DOID:14744	Partington syndrome Aliases: X-linked Russell-Silver syndrome	ARX	170302	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112233	lissencephaly 8 Aliases: LIS8	TMTC3	160418	Homo sapiens (human)	Alliance of Genome Resources

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