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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 **3351 - 3375** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0112237	lissencephaly 1 Aliases: LIS1 PAFAH1B1-related lissencephaly	PAFAH1B1	5048	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060438	Cole-Carpenter syndrome	P4HB SEC24D	5034 9871	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111806	syndromic microphthalmia 5 Aliases: MCOPS5 syndromic microphthalmia type 5 syndromic microphthalmia/anophthalmia due to OTX2 mutation	OTX2	5015	Homo sapiens (human)	Alliance of Genome Resources
DOID:9410	panhypopituitarism Aliases: Simmond's disease Simmonds' disease combined pituitary hormone deficiency	OTX2 RNPC3 ROBO1	5015 55599 6091	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080768	pyridoxine-dependent epilepsy	ALDH7A1	501	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050883	infantile cerebellar-retinal degeneration	ACO2	50	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111442	optic atrophy 9 Aliases: OPA9	ACO2	50	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080181	PHARC syndrome Aliases: polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	Abhd12	499913	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080512	Meier-Gorlin syndrome 1	ORC1	4998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081097	Rafiq syndrome Aliases: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15	Man1b1	499751	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111801	syndromic microphthalmia 3 Aliases: AEG syndrome MCOPS3 SOX2 anophthalmia syndrome anophthalmia clinical with associated anomalies anophthalmia esophageal genital syndrome anophthalmia microphthalmia esophageal atresia anophthalmia/microphthalmia-esophageal atresia syndrome microphthalmia and esophageal atresia syndrome syndromic microphthalmia type 3	Sox2	499593	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112074	nuclear type mitochondrial complex I deficiency 1 Aliases: MC1DN1	Ndufs4	499529	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070238	primary coenzyme Q10 deficiency 1 Aliases: COQ10D1 CoQ deficiency 1 CoQ10 deficiency, primary, 1 coenzyme Q deficiency 1 ubiquinone deficiency 1	Coq2	498332	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081368	Paget's disease of bone 5 Aliases: Familial osteoectasia Hereditary hyperphosphatasia Hyperostosis corticalis deformans juvenilis Juvenile Paget disease Paget disease of bone-5	TNFRSF11B	4982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110536	autosomal recessive nonsyndromic deafness 91 Aliases: DFNB91 autosomal recessive deafness 91	Spn42Dd	49808	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0111581	C syndrome Aliases: OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome trigonocephaly C syndrome	Cd96	498079	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111498	combined oxidative phosphorylation deficiency 22 Aliases: COXPD22	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070461	mitochondrial complex V (ATP synthase) deficiency nuclear type 4A Aliases: MC5DN4A	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B Aliases: MC5DN4B	ATP5F1A	498	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080113	mitochondrial complex III deficiency nuclear type 4	Uqcrq	497902	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9280	carbamoyl phosphate synthetase I deficiency disease Aliases: CPS I deficiency	Cps1	497840	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080420	developmental and epileptic encephalopathy 62 Aliases: DEE62 early infantile epileptic encephalopathy 62	Scn3a	497770	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081424	familial focal epilepsy with variable foci 4	Scn3a	497770	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0112382	muscular dystrophy-dystroglycanopathy type C8 Aliases: LGMDR24 MDDGC2 autosomal recessive limb-girdle muscular dystrophy 24 muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related	pomgnt2	497644	Danio rerio (zebrafish)	Alliance of Genome Resources

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