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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 **4176 - 4200** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0112373	autosomal dominant auditory neuropathy 3 Aliases: AUNA3	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110074	arrhythmogenic right ventricular dysplasia 5 Aliases: ARVC5 ARVD5 arrhythmogenic right ventricular cardiomyopathy 5 familial arrhythmogenic right ventricular dysplasia 5	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070252	autosomal dominant Emery-Dreifuss muscular dystrophy 7 Aliases: EDMD7 Emery-Dreifuss muscular dystrophy 7, autosomal dominant	TMEM43	79188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081141	agammaglobulinemia 9	SLC39A7	7922	Homo sapiens (human)	Alliance of Genome Resources
DOID:1540	parathyroid carcinoma Aliases: Parathyroid gland neoplasm carcinoma of Parathyroid gland malignant neoplasm of parathyroid gland malignant neoplasm of the Parathyroid malignant tumor of parathyroid gland neoplasm of parathyroid gland parathyroid gland cancer parathyroid neoplasm	CDC73	79577	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080786	Brown-Vialetto-Van Laere syndrome 2	SLC52A2	79581	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110989	Joubert syndrome 20 Aliases: JBTS20	TMEM231	79583	Homo sapiens (human)	Alliance of Genome Resources
DOID:4501	orofaciodigital syndrome Aliases: oral-facial-digital syndrome	TMEM231	79583	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110982	Joubert syndrome 13 Aliases: JBTS13	TCTN1	79600	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080586	Van Maldergem syndrome 2	FAT4	79633	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080568	congenital disorder of glycosylation Iq Aliases: congenital disorder of glycosylation 1q	SRD5A3	79644	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0050807	Kahrizi syndrome Aliases: KHRZ intellectual disability, Kahrizi type intellectual disability-cataract-coloboma-kyphosis syndrome	SRD5A3	79644	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome Aliases: Bennion-Patterson syndrome Howell-Evans syndrome TOC keratosis palmaris et plantaris with esophageal cancer keratosis palmoplantaris-esophageal carcinoma syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome palmoplantar keratoderma with esophageal cancer tylosis with esophageal cancer tylosis-oesophageal carcinoma syndrome	RHBDF2	79651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110087	asphyxiating thoracic dystrophy 3 Aliases: ATD3 SRPS1 SRPS2B SRPS3 SRTD3 Saldino-Noonan syndrome Verma-Naumoff syndrome polydactyly with neonatal chondrodystrophy, type I polydactyly with neonatal chondrodystrophy, type III short rib-polydactyly syndrome, type I short rib-polydactyly syndrome, type IIB short-rib thoracic dysplasia 3 with or without polydactyly	DYNC2H1	79659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081111	osteosclerotic metaphyseal dysplasia	LRRK1	79705	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112315	brain small vessel disease 3 Aliases: BSVD3	COLGALT1	79709	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111094	Fanconi anemia complementation group N Aliases: FANCN	PALB2	79728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111641	autosomal recessive nonsyndromic deafness 94 Aliases: DFNB94 autosomal recessive deafness 94	NARS2	79731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111485	combined oxidative phosphorylation deficiency 24 Aliases: COXPD24	NARS2	79731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081209	autosomal recessive intellectual developmental disorder 45	FBXO31	79791	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080564	congenital disorder of glycosylation Il Aliases: congenital disorder of glycosylation 1l	ALG9	79796	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0080597	Kleefstra syndrome	EHMT1	79813	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060858	hypotonia-cystinuria syndrome Aliases: cystinuria with mitochondrial disease	CAMKMT	79823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110993	Joubert syndrome 24 Aliases: JBTS24	TCTN2	79867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070122	Meckel syndrome 8 Aliases: MKS8 Meckel-Gruber syndrome, type 8	TCTN2	79867	Homo sapiens (human)	Alliance of Genome Resources

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