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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 **11076 - 11100** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:14695	galactokinase deficiency Aliases: Galactosemia II	GALK1	2584	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111849	osteogenesis imperfecta type 20 Aliases: OI20 osteogenesis imperfecta type XX	MESD	23184	Homo sapiens (human)	Alliance of Genome Resources
DOID:2548	reflex epilepsy Aliases: epilepsy, sensory-induced	ABAT TRPV1	18 7442	Homo sapiens (human)	Alliance of Genome Resources
DOID:11044	gastroschisis	ADD1 IGF1R KIT LRP1 NOS2	118 3480 3815 4035 4843	Homo sapiens (human)	Alliance of Genome Resources
DOID:1781	thyroid cancer Aliases: Thyroid gland neoplasm malignant neoplasm of thyroid gland malignant tumour of thyroid gland neoplasm of thyroid gland thyroid gland cancer thyroid neoplasm	CDH16	1014	Homo sapiens (human)	Alliance of Genome Resources
DOID:11555	Fuchs' endothelial dystrophy Aliases: FCED Fuchs' corneal dystrophy Fuchs' endothelial corneal dystrophy	AGBL1 C3 CLU COL8A2 LOXHD1 SLC4A11 TCF4 ZEB1	1191 123624 125336 1296 6925 6935 718 83959	Homo sapiens (human)	Alliance of Genome Resources
DOID:9597	Krukenberg carcinoma Aliases: Krukenberg neoplasm	CD44	960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112214	developmental and epileptic encephalopathy 78 Aliases: DEE78 early infantile epileptic encephalopathy 78	GABRA2	2555	Homo sapiens (human)	Alliance of Genome Resources
DOID:13515	tuberous sclerosis Aliases: Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis	BMP4 EIF4EBP1 FLNA MMP9 RHEB TSC1 TSC2	1978 2316 4318 6009 652 7248 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112266	nephrotic syndrome type 23 Aliases: NPHS23	KIRREL1	55243	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110202	Charcot-Marie-Tooth disease dominant intermediate A Aliases: CMTDIA Charcot-Marie-Tooth neuropathy dominant intermediate A DI-CMTA autosomal dominant intermediate Charcot-Marie-Tooth disease type A	GBF1	8729	Homo sapiens (human)	Alliance of Genome Resources
DOID:1907	malignant fibrous histiocytoma Aliases: Fibroxanthosarcoma MFH	PPARGC1A	10891	Homo sapiens (human)	Alliance of Genome Resources
DOID:639	acute disseminated encephalomyelitis Aliases: ADEM acute disseminated encephalitis	HLA-DQB1 HLA-DRB1 HLA-DRB5 IFNG NEFL	3119 3123 3127 3458 4747	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111632	familial erythrocytosis 6 Aliases: ECYT6 beta-globin type erythrocytosis beta-globin type polycythemia	HBB	3043	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070149	hereditary sensory and autonomic neuropathy type 7 Aliases: HSAN7 hereditary sensory and autonomic neuropathy type VII	SCN11A	11280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080694	Galloway-Mowat syndrome	NUP107 NUP133 YRDC	55746 57122 79693	Homo sapiens (human)	Alliance of Genome Resources
DOID:13910	red color blindness Aliases: Protan defect Protanopia	OPN1LW	5956	Homo sapiens (human)	Alliance of Genome Resources
DOID:13533	osteopetrosis Aliases: Albers-Schonberg disease marble bone	CLCN3 CLCN5 CSF1 GHR LRRK1 MITF PLEKHM1 SLC4A2	1182 1184 1435 2690 4286 6522 79705 9842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110191	Charcot-Marie-Tooth disease type 4B1 Aliases: CMT4B1 Charcot-Marie-Tooth neuropathy type 4B1 autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1	MTMR2	8898	Homo sapiens (human)	Alliance of Genome Resources
DOID:13714	anodontia Aliases: Complete absence of teeth Developmental absence of tooth Total anodontia of permanent and deciduous teeth	DKK1 GLI3 MMP13 MMP9	22943 2737 4318 4322	Homo sapiens (human)	Alliance of Genome Resources
DOID:1858	McCune Albright syndrome Aliases: fibrous dysplasia of bone osteitis fibrosa disseminata polyostotic fibrous dysplasia	GNAI1 GNAI2 GNAI3 GNAT3 IGFBP3	2770 2771 2773 346562 3486	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111743	cerebellar ataxia type 47 Aliases: SCA47	PUM1	9698	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110536	autosomal recessive nonsyndromic deafness 91 Aliases: DFNB91 autosomal recessive deafness 91	SERPINB6	5269	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112263	hypoinsulinemic hypoglycemia with hemihypertrophy Aliases: HIHGHH hypoinsulinemic hypoglycemia and body hemihypertrophy	AKT2	208	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112247	congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Aliases: CDK13-Related CHDFIDD CDK13-Related Disorder CHDFIDD	CDK13	8621	Homo sapiens (human)	Alliance of Genome Resources

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