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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 **826 - 850** of **4649** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0112061	immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia Aliases: IMD73B	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112062	immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia Aliases: IMD73C	RAC2	5880	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080235	autosomal dominant intellectual developmental disorder 48 Aliases: autosomal dominant mental retardation 48	RAC1 RAC2 RAC3	5879 5880 5881	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050539	Charcot-Marie-Tooth disease type 2 Aliases: hereditary motor and sensory neuropathy Guadalajara neuronal type hereditary motor and sensory neuropathy Okinawa type hereditary motor and sensory neuropathy type 2	RAB7A	7879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110159	Charcot-Marie-Tooth disease type 2B Aliases: CMT2B Charcot-Marie-Tooth neuropathy type 2B HMSN IIB HMSN2B autosomal dominant Charcot-Marie-Tooth disease type 2B hereditary motor and sensory nueropathy IIB	RAB7A	7879	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081125	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2	RAB5IF	55969	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081271	Smith-McCort dysplasia 2	RAB33B	83452	Homo sapiens (human)	Alliance of Genome Resources
DOID:2754	glycogen storage disease VI Aliases: Glycogen storage disease 6 Hers' disease glycogen storage disease type VI hepatic glycogen phosphorylase deficiency hepatophosphorylase deficiency glycogenosis	PYGL	5836	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060788	hypomyelinating leukodystrophy 10 Aliases: HLD10	PYCR2	29920	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070138	autosomal recessive cutis laxa type IIIB Aliases: ARCL3B De Barsy syndrome B	PYCR1	5831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070137	autosomal recessive cutis laxa type IIB Aliases: ARCL2, progeroid type ARCL2B	PYCR1 PYCR2	29920 5831	Homo sapiens (human)	Alliance of Genome Resources
DOID:2835	polycythemia due to hypoxia	PXK SNX16	54899 64089	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080612	anterior segment dysgenesis 7	PXDN	7837	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081265	intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Aliases: IDDBAS	PUS7	54517	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:0050153	pulmonary aspergilloma	PTX3	5806	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080384	nephrotic syndrome type 6	PTPRO	5800	Homo sapiens (human)	Alliance of Genome Resources
DOID:2602	chondroma Aliases: central Chondroma	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080548	Noonan syndrome with multiple lentigines 1 Aliases: LEOPARD syndrome 1	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111512	metachondromatosis Aliases: METCDS	PTPN11	5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060578	Noonan syndrome 1 Aliases: NS1	PTPN11 PTPN6	5777 5781	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070486	Parkinson's disease 25 Aliases: PARK25 autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development	PTPA	5524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110976	brachydactyly type E2 Aliases: BDE2	PTHLH	5744	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111732	Eiken syndrome Aliases: Eiken skeletal dysplasia bone modeling defect of hands and feet	PTH1R	5745	Homo sapiens (human)	Alliance of Genome Resources

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