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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 **10476 - 10500** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111800	syndromic microphthalmia 12 Aliases: MCOPS12 microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects	RARB	5915	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060275	pontocerebellar hypoplasia type 6	RARS2	57038	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110912	leukocyte adhesion deficiency 3 Aliases: IADD LAD1 variant LAD1V LAD3 integrin activation deficiency disease leukocyte adhesion deficiency 1 variant leukocyte adhesion deficiency type III	RASGRP2	10235	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111051	platelet-type bleeding disorder 18 Aliases: BDPLT18 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency	RASGRP2	10235	Homo sapiens (human)	Alliance of Genome Resources
DOID:4648	familial retinoblastoma Aliases: Hereditary Retinoblastoma	RB1	5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050804	glioblastoma proneural subtype	RB1	5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070013	Seckel syndrome 2 Aliases: SCKL2 Seckel-type dwarfism 2 microcephalic primordial dwarfism 2	RBBP8	5932	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111780	TARP syndrome Aliases: Pierre Robin sequence-congenital heart defect-talipes syndrome Pierre Robin syndrome-congenital heart defect-talipes syndrome TARPS talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome	RBM10	8241	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080281	schizophrenia 19	RBM12	10137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110447	dilated cardiomyopathy 1DD Aliases: CMD1DD	RBM20	282996	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081123	X-linked mental retardation Gustavson type Aliases: mental retardation with optic atrophy, deafness and seizures	RBMX	27316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060826	syndromic X-linked intellectual disability Shashi type Aliases: MRXS11 SMRXS Shashi X-linked mental retardation syndrome X-linked mental retardation Shashi type mental retardation, X-linked, syndromic 11, Shashi type syndromic X-linked intellectual disability type 11	RBMX	27316	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110393	retinitis pigmentosa 66 Aliases: RP66	RBP3	5949	Homo sapiens (human)	Alliance of Genome Resources
DOID:14040	autoimmune polyendocrine syndrome Aliases: Autoimmune polyglandular failure Lloyd's syndrome autoimmune polyendocrinopathy	RCO1	855097	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110482	autosomal recessive nonsyndromic deafness 24 Aliases: DFNB24 autosomal recessive deafness 24	RDX	5962	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050774	rapadilino syndrome	RECQL4	9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050654	Baller-Gerold syndrome	RECQL4	9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110782	hereditary spastic paraplegia 31 Aliases: SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31	REEP4	80346	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060322	mastoiditis	RELA TLR2 TLR4	5970 7097 7099	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111992	immunodeficiency 53 Aliases: IMD53	RELB	5971	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060751	familial temporal lobe epilepsy 7 Aliases: ETL7	RELN	5649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060902	Norman-Roberts syndrome Aliases: lissencephaly 2 lissencephaly syndrome, Norman-Roberts type	RELN	5649	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111722	amelogenesis imperfecta type 3C Aliases: AI3C amelogenesis imperfecta type IIIC autosomal recessive amelogenesis imperfecta hypocalcification type	RELT	84957	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110556	autosomal dominant nonsyndromic deafness 27 Aliases: DFNA27 autosomal dominant deafness 27	REST	5978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080280	gingival fibromatosis 5	REST	5978	Homo sapiens (human)	Alliance of Genome Resources

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