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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 **12501 - 12525** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:0112274	X-linked spermatogenic failure 3 Aliases: SPGFX3	CFAP47	286464	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070166	spermatogenic failure 20 Aliases: SPGF20	CFAP44	55779	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070170	spermatogenic failure 19 Aliases: SPGF19	CFAP43	80217	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111155	autosomal recessive spinocerebellar ataxia 21 Aliases: SCAR21 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive spinocerebellar ataxia 21 with hepatopathy	CEX1	854279	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050951	hereditary ataxia	CEX1	854279	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0111369	hyperalphalipoproteinemia 1 Aliases: HALP1	CETP	1071	Homo sapiens (human)	Alliance of Genome Resources
DOID:3119	gastrointestinal system cancer Aliases: GI tumor digestive system cancer gastrointestinal tract cancer	CES1 SMAD4	1066 4089	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060718	autosomal recessive congenital ichthyosis 9 Aliases: ARCI9	CERS3	204219	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111451	progressive myoclonus epilepsy 8 Aliases: EMP8 PME type 8 progressive myoclonic epilepsy due to CERS1 deficiency progressive myoclonus epilepsy type 8	CERS1	10715	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080142	mosaic variegated aneuploidy syndrome 2	CEP57	9702	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110984	Joubert syndrome 15 Aliases: JBTS15	CEP41	95681	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111123	nephronophthisis 15 Aliases: NPHP15	CEP164	22897	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070012	Seckel syndrome 5 Aliases: SCKL5	CEP152	22995	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070292	primary autosomal recessive microcephaly 9 Aliases: MCPH9	CEP152	22995	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070282	primary autosomal recessive microcephaly 8 Aliases: MCPH8	CEP135	9662	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081236	autosomal recessive intellectual developmental disorder 77	CEP104	9731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110994	Joubert syndrome 25 Aliases: JBTS25	CEP104	9731	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110595	Stromme syndrome Aliases: CILD31 apple peel syndrome with microcephaly and ocular anomalies jejunal atresia with microcephaly and ocular anomalies lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome primary ciliary dyskinesia 31	CENPF	1063	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070283	primary autosomal recessive microcephaly 13 Aliases: MCPH13	CENPE	1062	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060218	CREST syndrome	CENPC FBN1	1060 2200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070383	developmental and epileptic encephalopathy 97 Aliases: DEE97 early infantile epileptic encephalopathy 97	CELF2	10659	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111105	maturity-onset diabetes of the young type 8 Aliases: MODY type 8 MODY8 diabetes and pancreatic exocrine maturity-onset diabetes of the young type 8 with exocrine dysfunction	CEL	1056	Homo sapiens (human)	Alliance of Genome Resources
DOID:3153	lipomatosis Aliases: multiple lipomatosis	CEL	1056	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110574	autosomal dominant nonsyndromic deafness 4B Aliases: DFNA4B autosomal dominant deafness 4B	CEACAM16	388551	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111636	autosomal recessive nonsyndromic deafness 113 Aliases: DFNB113 autosomal recessive deafness 113	CEACAM16	388551	Homo sapiens (human)	Alliance of Genome Resources

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