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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 **9676 - 9700** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:0111953	immunodeficiency 23 Aliases: CID due to PGM3 deficiency IMD23 PGM3-CDG PGM3-related congenital disorder of glycosylation combined immunodeficiency due to PGM3 deficiency	PCM1	856652	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0081385	ataxia-telangiectasia-like disorder-2 Aliases: PCNA-related progressive neurodegenerative photosensitivity syndrome	PCNA	5111	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II Aliases: Majewski osteodysplastic primordial dwarfism type II osteodysplastic primordial dwarfism type II	PCNT	5116	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111698	proprotein convertase 1/3 deficiency Aliases: PCI deficiency obesity and endocrinopathy due to impaired processing of prohormones obesity due to prohormone convertase I deficiency obesity with impaired prohormone processing	PCSK1	5122	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy Aliases: SMD-CRD SMDCRD spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PCYT1A	5130	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112343	hereditary spastic paraplegia 82 Aliases: SPG82 spastic paraplegia 82 autosomal recessive	PCYT2	5833	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111247	hypertension and brachydactyly syndrome Aliases: Bilginturan brachydactyly Bilginturan syndrome HTNB brachydactyly with hypertension type E brachydactyly with short stature and hypertension	PDE3A	5139	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110863	congenital stationary night blindness autosomal dominant 2 Aliases: CSNBAD2 Rambusch type congenital stationary night blindness	PDE6B	5158	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110375	retinitis pigmentosa 40 Aliases: RP40	PDE6B	5158	Homo sapiens (human)	Alliance of Genome Resources
DOID:12215	oligohydramnios Aliases: Oligohydramnios - delivered antepartum oligohydramnios delivered oligohydramnios	PDGFA PDGFB PDGFRA PDGFRB PDPN	10630 5154 5155 5156 5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:4202	brain stem glioma Aliases: Brainstem Neuroglial tumor	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:4297	scimitar syndrome Aliases: Halasz syndrome congenital venolobar syndrome hypogenetic lung syndrome mirror-image lung syndrome pulmonary venolobar syndrome total anomalous pulmonary venous return vena cava bronchovascular syndrome	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:3840	craniopharyngioma Aliases: neoplasm of Rathke's Pouch	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:8946	severe nonproliferative diabetic retinopathy Aliases: High risk non proliferative diabetic retinopathy Severe NPDR	PDGFRB	5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111344	myeloproliferative disorder with eosinophilia Aliases: chronic myeloproliferative disorder with eosinophilia	PDGFRB	5159	Homo sapiens (human)	Alliance of Genome Resources
DOID:3304	germinoma	PDPN	10630	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050877	pancreatic agenesis Aliases: Agenesis of the dorsal pancreas partial pancreatic agenesis	PDX1	3651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111103	maturity-onset diabetes of the young type 4 Aliases: MODY type 4 MODY4	PDX1	3651	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110838	Usher syndrome type 2A Aliases: USH2A Usher syndrome type IIA	PDZD7 USH2A	7399 79955	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111635	autosomal recessive nonsyndromic deafness 57 Aliases: DFNB57 autosomal recessive deafness 57	PDZD7	79955	Homo sapiens (human)	Alliance of Genome Resources
DOID:9643	babesiosis Aliases: Babesiasis Infection by babesia piroplasmosis	PECAM1	5175	Homo sapiens (human)	Alliance of Genome Resources
DOID:5453	pulmonary venoocclusive disease Aliases: pulmonary veno-occlusive disease	PEK	40653	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090060	Wolcott-Rallison syndrome	PEK	40653	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1591	renovascular hypertension	PEP4 TIF4631 TIF4632 ZWF1	852833 853071 855480 855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:10881	hand, foot and mouth disease Aliases: Vesicular stomatitis and exanthem	PEP4	855949	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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