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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 **326 - 350** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0080253	Meckel syndrome 13	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080254	orofaciodigital syndrome XVI	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	PHF6	84295	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081328	familial hyperinsulinemic hypoglycemia 8	SLC25A33	84275	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070139	autosomal recessive cutis laxa type IC Aliases: ARCL1C autosomal recessive cutis laxa type 1C	LTBP4	8425	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111437	optic atrophy 7 Aliases: OPA7 optic atrophy 7 with or without auditory neuropathy	TMEM126A	84233	Homo sapiens (human)	Alliance of Genome Resources
DOID:746	adenomatoid tumor Aliases: adenomatoid tumour benign localised epithelial Mesothelioma benign localized epithelial Mesothelioma	TRAF7	84231	Homo sapiens (human)	Alliance of Genome Resources
DOID:1788	peritoneal mesothelioma Aliases: Advanced malignant Mesothelioma of Peritoneum advanced malignant peritoneal mesothelioma malignant mesothelioma of peritoneum	TRAF7	84231	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	POMK	84197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12 Aliases: MDDGA12 Walker-Warburg syndrome or muscle-eye-brain disease POMK-related congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12	POMK	84197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111628	high myopia-sensorineural deafness syndrome Aliases: DFNMYP deafness and myopia deafness and myopia syndrome	SLITRK6	84189	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081243	rhizomelic chondrodysplasia punctate type 4	FAR1	84188	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080792	Treacher Collins syndrome 4	POLR1B	84172	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112249	GAPO syndrome Aliases: growth delay-alopecia-pseudoanodontia-optic atrophy syndrome	ANTXR1	84168	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111555	Alkuraya-Kucinskas syndrome Aliases: ALKKUCS	BLTP1	84162	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110365	retinitis pigmentosa 28 Aliases: RP28	FAM161A	84140	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111169	subcortical band heterotopia Aliases: HeCo band heterotopia double cortex syndrome heterotopic cortex subcortical laminar heterotopia	WDR75	84128	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111919	spermatogenic failure 38 Aliases: SPGF38	ARMC2	84071	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060545	Hermansky-Pudlak syndrome 7	DTNBP1	84062	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Aliases: XMEN	MAGT1	84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111839	congenital disorder of glycosylation Icc Aliases: congenital disorder of glycosylation type Icc	MAGT1	84061	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111305	familial febrile seizures 4 Aliases: FEB4 familial febrile convulsions 4	ADGRV1	84059	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111650	ectodermal dysplasia 13 Aliases: ECTD13 ectodermal dysplasia 13, hair/tooth type	KREMEN1	83999	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110735	neurodegeneration with brain iron accumulation 2a Aliases: INAD1 Infantile Neuroaxonal Dystrophy 1 NBIA2a Neurodegeneration, Pla2g6-Associated Seitelberger Disease	PLA2G6	8398	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110736	neurodegeneration with brain iron accumulation 2b Aliases: NBIA2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	PLA2G6	8398	Homo sapiens (human)	Alliance of Genome Resources

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