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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	January 28, 2025
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4126 - 4150** of **5716** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
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:0050585	congenital generalized lipodystrophy	PCYT1A	5130	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:0060998	striatal degeneration 2	PDE10A	10846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070547	primary pigmented nodular adrenocortical disease 2 Aliases: PPNAD2	PDE11A	50940	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:11132	prostatic hypertrophy	PDGFB PDGFD SRD5A1	5155 6715 80310	Homo sapiens (human)	Alliance of Genome Resources
DOID:2226	myeloproliferative neoplasm Aliases: CMPD CMPD, U chronic myeloproliferative disease	PDGFRB TET2	5159 54790	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:0070569	spermatogenic failure 70 Aliases: SPGF70	PDHA2	5161	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110207	Charcot-Marie-Tooth disease X-linked dominant 6 Aliases: CMT6X CMTX6 Charcot-Marie-Tooth neuropathy X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6	PDK3	5165	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:0061003	pancreatic agenesis 1	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:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	PER2 PER3 TIMELESS	8863 8864 8914	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050696	fetal alcohol spectrum disorder	PER2 POMC	5443 8864	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110011	advanced sleep phase syndrome 1 Aliases: FASPS1 familial advanced sleep phase syndrome 1	PER2	8864	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110013	advanced sleep phase syndrome 3 Aliases: FASPS3 familial advanced sleep phase syndrome 3	PER3	8863	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081274	peroxisome biogenesis disorder 14B	PEX11B	8799	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080487	peroxisome biogenesis disorder 13A Aliases: peroxisome biogenesis disorder 13A (Zellweger)	PEX14	5195	Homo sapiens (human)	Alliance of Genome Resources

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