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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **7901 - 7925** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▲	Organism
DOID:0070382	developmental and epileptic encephalopathy 95 Aliases: DEE95 early infantile epileptic encephalopathy 95	PIGS	94005	Homo sapiens (human)
DOID:5804	discrete subaortic stenosis	FADS2	9415	Homo sapiens (human)
DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type	Nans	94181	Mus musculus (house mouse)
DOID:0060050	autoimmune disease of blood	C1galt1	94192	Mus musculus (house mouse)
DOID:1577	limited scleroderma Aliases: Limited cutaneous systemic sclerosis systemic sclerosis, limited	Pgf	94203	Rattus norvegicus (Norway rat)
DOID:11400	pyelonephritis	Pgf	94203	Rattus norvegicus (Norway rat)
DOID:3328	temporal lobe epilepsy Aliases: epilepsy, temporal lobe	Pgf	94203	Rattus norvegicus (Norway rat)
DOID:1798	pancreatic endocrine carcinoma Aliases: Islet cell carcinoma carcinoma of endocrine pancreas malignant neoplasm of islets of Langerhans pancreatic neuroendocrine carcinoma	Pgf	94203	Rattus norvegicus (Norway rat)
DOID:4977	lymphedema Aliases: Lymphatic edema Lymphoedema	Pgf	94203	Rattus norvegicus (Norway rat)
DOID:0070253	congenital disorder of glycosylation type IIa Aliases: Alkuraya syndrome CDG IIa CDG2A CDGIIa CDGS2 carbohydrate-deficient glycoprotein syndrome, type II congenital disorder of glycosylation, type IIa mental retardation, growth retardation, prominent columella, and open mouth	Mgat2	94273	Rattus norvegicus (Norway rat)
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	9469	Homo sapiens (human)
DOID:0080036	SOST-related sclerosing bone dysplasia Aliases: van Buchem disease	CHST3	9469	Homo sapiens (human)
DOID:14764	Larsen syndrome Aliases: dominant larsen syndrome	CHST3	9469	Homo sapiens (human)
DOID:0112152	CHIME syndrome Aliases: PIGL-CDG Zunich neuroectodermal syndrome Zunich-Kaye syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to PIGL deficiency neuroectodermal dysplasia, CHIME type neuroectodermal syndrome, Zunich type	PIGL	9487	Homo sapiens (human)
DOID:0080207	CAKUT2 Aliases: Congenital anomalies of the kidney and urinary tract 2	PIGL	9487	Homo sapiens (human)
DOID:0112216	developmental and epileptic encephalopathy 80 Aliases: DEE80 GPIBD20 early infantile epileptic encephalopathy 80 glycosylphosphatidylinositol biosynthesis defect 20	PIGB	9488	Homo sapiens (human)
DOID:0070157	hereditary sensory and autonomic neuropathy type 1C Aliases: HSAN1C hereditary sensory and autonomic neuropathy type IC	SPTLC2	9517	Homo sapiens (human)
DOID:1757	facial hemiatrophy Aliases: PARRY-ROMBERG SYNDROME	CD38	952	Homo sapiens (human)
DOID:3098	small cell sarcoma	CD38	952	Homo sapiens (human)
DOID:5492	biphasic synovial sarcoma Aliases: Biphasic sarcoma of Synovium Synovial sarcoma, biphasic	CD38	952	Homo sapiens (human)
DOID:5495	monophasic synovial sarcoma Aliases: Monophasic sarcoma of Synovium	CD38	952	Homo sapiens (human)
DOID:2121	ectodermal dysplasia Aliases: Congenital ectodermal defect Congenital ectodermal dysplasia	CD38	952	Homo sapiens (human)
DOID:2877	larynx sarcoma Aliases: sarcoma of larynx	CD38	952	Homo sapiens (human)
DOID:0081188	autosomal recessive intellectual developmental disorder 14	TECR	9524	Homo sapiens (human)
DOID:0112333	pontocerebellar hypoplasia type 16 Aliases: PCH16	MINPP1	9562	Homo sapiens (human)

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