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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 **4101 - 4115** of **4115** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0070376	developmental and epileptic encephalopathy 31B Aliases: DEE31B	DNM1	1759	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050471	Carney complex Aliases: Carney Complex, Type 1 Carney Complex, Type 2 Carney Syndrome Carney complex variant LAMB Syndrome NAME Syndrome	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112196	spondylometaepiphyseal dysplasia, short limb-hand type Aliases: SMED short limb-abnormal calcification type SMED short limb-hand type SMED type 2 SMED, type II SMED-SL SMED-SL/AC spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome spondylometaepiphyseal dysplasia short limb-hand type	DDR2	4921	Homo sapiens (human)	Alliance of Genome Resources
DOID:14250	Down syndrome Aliases: Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome	MMP9 MTHFD1 SNAP25 SOD1	4318 4522 6616 6647	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110734	neurodegeneration with brain iron accumulation Aliases: NBIA	CRAT FTH1 REPS1	1384 2495 85021	Homo sapiens (human)	Alliance of Genome Resources
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	CA9 CCL5 CCR5 CTLA4 CYP27B1 DOCK8 EFTUD2 EIF2AK2 HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 IFNA2 IFNAR2 IFNGR1 IL10 IL10RB IL4 IL6 KIR3DS1 MBL2 PDCD1 SAMHD1 TLR3 TLR9 TNF UGT1A1 UGT1A6 XRCC1	1234 1493 1594 25939 3113 3115 3117 3119 3440 3455 3459 3565 3569 3586 3588 3813 4153 5133 54106 54578 54658 5610 6352 7098 7124 7515 768 81704 9343	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080284	developmental and epileptic encephalopathy 57 Aliases: DEE57 early infantile epileptic encephalopathy 57	KCNT2	343450	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
DOID:0110064	amelogenesis imperfecta type 1H Aliases: AI1H amelogenesis imperfecta type IH	ITGB6	3694	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110727	neuronal ceroid lipofuscinosis 13 Aliases: CLN13 neuronal ceroid lipofuscinosis 13 Kufs type	CTSF	8722	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050697	chorioamnionitis	LTA MBL2 TNF	4049 4153 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110142	Bartter disease type 1 Aliases: BARTS1 Bartter syndrome type 1 Bartter syndrome type 1 antenatal hyperprostaglandin E syndrome 1 hypokalemic alkalosis with hypercalciuria 1 antenatal	SLC12A1	6557	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090132	complex cortical dysplasia with other brain malformations 7 Aliases: CDCBM7 polymicrogyria due to TUBB2B mutation	TUBB2B	347733	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070374	leukoencephalopathy with vanishing white matter 1	EIF2B1	1967	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080236	autosomal dominant intellectual developmental disorder 45 Aliases: autosomal dominant mental retardation 45	CIC	23152	Homo sapiens (human)	Alliance of Genome Resources

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