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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 **1126 - 1150** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism	Source
DOID:0111976	immunodeficiency 9 Aliases: CID due to ORAI1 deficiency IMD9 combined immunodeficiency due to ORAI1 deficiency immune dysfunction with T-cell inactivation due to calcium entry defect 1	ORAI1	84876	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080686	tubular aggregate myopathy 2	ORAI1	84876	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112346	hereditary spastic paraplegia 83 Aliases: SPG83 spastic paraplegia 83 autosomal recessive	HPDL	84842	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111450	progressive myoclonus epilepsy 9 Aliases: EMP9 PME type 9 progressive myoclonic epilepsy due to LMNB2 deficiency progressive myoclonus epilepsy type 9	LMNB2	84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080299	partial lipodystrophy	LMNB2	84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111434	optic atrophy 10 Aliases: OPA10 optic atrophy 10 with or without ataxia, mental retardation, and seizures	RTN4IP1	84816	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111776	46,XY sex reversal 5 Aliases: 46,XY gonadal dysgenesis, complete, CBX2-related 46,XY sex reversal, CBX2-related SRXY5 disorder of sex development, 46,XY, CBX2-related sex reversal, XY, CBX2-related	CBX2	84733	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	OGT	8473	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2 Aliases: GPIBD6 HPMRS2 glycosylphosphatidylinositol biosynthesis defect 6 hyperphosphatasia with mental retardation syndrome 2	PIGO	84720	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111835	congenital nongoitrous hypothyroidism 9 Aliases: CHNG9	IRS4	8471	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080592	Klippel-Feil syndrome 4	MYO18B	84700	Homo sapiens (human)	Alliance of Genome Resources
DOID:8295	scabies Aliases: Infestation by Sarcoptes scabiei Infestation by Sarcoptes scabiei var hominis Sarcoptic itch	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:9637	stomatitis	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:2582	acatalasia Aliases: acatalasemia deficiency of catalase	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:9201	lichen planus Aliases: Lichen, ruber planus lichen ruber planus	CAT CD40 CD40LG RIPK1	847 8737 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111844	X-linked intellectual developmental disorder 108 Aliases: MRX108	SLC9A7	84679	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110933	nemaline myopathy 11 Aliases: NEM11 nemaline myopathy 11, autosomal recessive	MYPN	84665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110445	dilated cardiomyopathy 1KK Aliases: CMD1KK	MYPN	84665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112310	central precocious puberty 1 Aliases: CPPB1	KISS1R	84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia	KISS1R	84634	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060929	non-syndromic X-linked intellectual developmental disorder 111 Aliases: XLID111	SLITRK2	84631	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111322	idiopathic generalized epilepsy 8 Aliases: EIG8	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	CASR	846	Homo sapiens (human)	Alliance of Genome Resources

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