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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 **476 - 500** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID ▼	Organism
DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures Aliases: CONDSIAS	Parg	83507	Rattus norvegicus (Norway rat)
DOID:0060470	salt and pepper syndrome Aliases: salt & pepper syndrome salt-and-pepper syndrome	St3gal5	83505	Rattus norvegicus (Norway rat)
DOID:2247	spondylosis Aliases: Lumbar spondylosis with myelopathy Spondylogenic compression of lumbar spinal cord Spondylogenic compression of thoracic spinal cord Thoracic or lumbar spondylosis with myelopathy lumbosacral spondylosis without myelopathy spondylosis with myelopathy	Kl	83504	Rattus norvegicus (Norway rat)
DOID:12466	secondary hyperparathyroidism	Kl	83504	Rattus norvegicus (Norway rat)
DOID:4372	intracranial embolism Aliases: Cerebral embolism with cerebral infarction cerebral embolism	Kl	83504	Rattus norvegicus (Norway rat)
DOID:0111067	congenital bile acid synthesis defect 6 Aliases: CBAS6	ACOX2	8309	Homo sapiens (human)
DOID:0080433	developmental and epileptic encephalopathy 51 Aliases: DEE51 early infantile epileptic encephalopathy 51	Mdh2	81829	Rattus norvegicus (Norway rat)
DOID:0050579	glycogen storage disease XV Aliases: Glycogen storage disease 15 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency glycogen storage disease type XV	Gyg1	81675	Rattus norvegicus (Norway rat)
DOID:12053	cryptococcosis Aliases: Busse-Buschke's disease European cryptococcosis cryptococcal infection torula torulosis	Chia1	81600	Mus musculus (house mouse)
DOID:0081215	autosomal recessive intellectual developmental disorder 52	LMAN2L	81562	Homo sapiens (human)
DOID:678	progressive supranuclear palsy Aliases: Steele-Richardson-Olszewski syndrome progressive supranuclear ophthalmoplegia	Ogg1	81528	Rattus norvegicus (Norway rat)
DOID:5520	head and neck squamous cell carcinoma Aliases: carcinoma of the head and neck squamous cell carcinoma of the head and neck squamous cell carcinomas of head and neck	Ogg1	81528	Rattus norvegicus (Norway rat)
DOID:3314	angiomyolipoma	Ogg1	81528	Rattus norvegicus (Norway rat)
DOID:9669	senile cataract	Ogg1	81528	Rattus norvegicus (Norway rat)
DOID:0050800	cerebral creatine deficiency syndrome 1 Aliases: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 SLC6A8 deficiency creatine transporter deficiency	CALR	811	Homo sapiens (human)
DOID:10022	ampulla of Vater benign neoplasm Aliases: tumor of the ampulla of Vater	CALR	811	Homo sapiens (human)
DOID:7428	pineal region germinoma	CALR	811	Homo sapiens (human)
DOID:0111146	acquired von Willebrand syndrome Aliases: AVWS	CALR	811	Homo sapiens (human)
DOID:552	pneumonia Aliases: acute pneumonia	Abo	80908	Mus musculus (house mouse)
DOID:1496	echinococcosis Aliases: Echinococcosis of liver echinococcal disease hepatic echinococcosis hydatid disease hydatidosis liver echinococcus pulmonary echinococcosis	Abo	80908	Mus musculus (house mouse)
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	Pofut2	80294	Mus musculus (house mouse)
DOID:0070224	progressive familial intrahepatic cholestasis 4 Aliases: PFIC4 TJP2 deficit	HSD3B7	80270	Homo sapiens (human)
DOID:0111071	congenital bile acid synthesis defect 1 Aliases: CBAS1	HSD3B7	80270	Homo sapiens (human)
DOID:0060869	late-onset retinal degeneration Aliases: LORD autosomal dominant late-onset retinal degeneration	HKDC1	80201	Homo sapiens (human)
DOID:0112160	autosomal dominant nonsyndromic deafness 79 Aliases: DFNA79	SCD5	79966	Homo sapiens (human)

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