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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 **14801 - 14825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism	Source
DOID:0111333	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Aliases: EMARDD Myopathy, areflexia, respiratory distress, and dysphagia, early-onset congenital myopathy 10A	MEGF10	84466	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050813	spondyloepiphyseal dysplasia with congenital joint dislocations Aliases: CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Kozlowski Celermajer Tink syndrome Omani Type Spondyloepiphyseal Dysplasia humero-spinal dysostosis humerospinal dysostosis	Chst3	84468	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060676	catecholaminergic polymorphic ventricular tachycardia 2 Aliases: CVPT2	CASQ2	845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060822	syndromic X-linked intellectual disability Cabezas type Aliases: Cabezas syndrome; syndromic X-linked mental retardation 15 MRSS MRXS15 MRXSC X-linked mental retardation with short stature X-linked mental retardation with short stature, hypogonadism, and abnormal gait mental retardation, X-linked, syndromic 15 mental retardation, X-linked, syndromic 15 (Cabezas type)	CUL4B	8450	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111581	C syndrome Aliases: OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome trigonocephaly C syndrome	Cd96	84544	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0081020	congenital fibrosis of the extraocular muscles 5	COL25A1	84570	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080678	mucolipidosis III gamma	GNPTG	84572	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
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	CASR	846	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:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	CASR	846	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: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:0110445	dilated cardiomyopathy 1KK Aliases: CMD1KK	MYPN	84665	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:0111844	X-linked intellectual developmental disorder 108 Aliases: MRX108	SLC9A7	84679	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: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:2582	acatalasia Aliases: acatalasemia deficiency of catalase	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:9637	stomatitis	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080592	Klippel-Feil syndrome 4	MYO18B	84700	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: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:0080240	non-syndromic X-linked intellectual disability 106 Aliases: MRX106 X-linked mental retardation 106	OGT	8473	Homo sapiens (human)	Alliance of Genome Resources

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