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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 **3126 - 3150** of **4649** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0111044	gray platelet syndrome Aliases: BDPLT4 GPS platelet alpha-granule deficiency platelet-type bleeding disorder 4	NBEAL2	23218	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070040	autosomal dominant intellectual developmental disorder 10 Aliases: MRD10 autosomal dominant mental retardation 10 autosomal dominant non-syndromic intellectual disability 10	CACNG2	10369	Homo sapiens (human)	Alliance of Genome Resources
DOID:1883	hepatitis C Aliases: NANBH Viral hepatitis C chronic hepatitis C hepatitis C infection hepatitis nonA nonB	AFP APOA1 CCL5 CCR5 CD274 F2 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLA-G IFNA2 IFNAR1 IFNG IFNL1 IL10 IL12A IL13 IL2 IL4 IL6 IRF5 KIR2DS1 KIR3DL1 KIR3DS1 KLRC1 KLRK1 LDLR MBL2 MPL MYC NCR1 NCR3 PDCD1 PTX3 SAMHD1 STAT1 STAT2 TERT TLR3 TLR9 TREM1	1234 174 2147 22914 259197 25939 282618 29126 3117 3119 3123 3135 335 3440 3454 3458 3558 3565 3569 3586 3592 3596 3663 3806 3811 3813 3821 3949 4153 4352 4609 5133 54106 54210 5806 6352 6772 6773 7015 7098 9437	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080387	nephrotic syndrome type 12	NUP93	9688	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111901	heparin cofactor II deficiency Aliases: HCF 2 deficiency HCF II deficiency THPH10 thrombophilia due to heparin cofactor II deficiency	SERPIND1	3053	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112024	non-syndromic X-linked intellectual disability 58 Aliases: MRX58 X-linked mental retardation 58	TSPAN7	7102	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080436	developmental and epileptic encephalopathy 4 Aliases: DEE4 early infantile epileptic encephalopathy 4	STXBP1	6812	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060896	Parkinson's disease 23 Aliases: autosomal recessive early-onset Parkinson disease 23 autosomal recessive early-onset Parkinson's disease 23	VPS13A VPS13C	23230 54832	Homo sapiens (human)	Alliance of Genome Resources
DOID:9835	refractive error	FBN1 PRSS56	2200 646960	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070233	Loeys-Dietz syndrome 4 Aliases: Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations LDS4	TGFB2	7042	Homo sapiens (human)	Alliance of Genome Resources
DOID:438	autoimmune disease of the nervous system	ALDOC ANXA5	230 308	Homo sapiens (human)	Alliance of Genome Resources
DOID:14021	Tietze's syndrome Aliases: Costalchondritis Costochondral junction syndrome Costochondritis Slipping rib syndrome Tietze's disease	MITF	4286	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110445	dilated cardiomyopathy 1KK Aliases: CMD1KK	MYPN	84665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050784	primary progressive multiple sclerosis Aliases: PPMS Primary-progressive MS	ADAMTS14 BCHE GC GRN HLA-DQB1 HLA-DRB1 IGFBP3 IL4R MMP9 SHH	140766 2638 2896 3119 3123 3486 3566 4318 590 6469	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070354	cataract 48 Aliases: CTRCT48	DNMBP TIAM1 TIAM2	23268 26230 7074	Homo sapiens (human)	Alliance of Genome Resources
DOID:9827	radioulnar synostosis	HOXA11 SMAD6	3207 4091	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:0070119	Meckel syndrome 5 Aliases: MKS5 Meckel-Gruber syndrome, type 5	RPGRIP1L	23322	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110612	primary ciliary dyskinesia 10 Aliases: CILD10 primary ciliary dyskinesia 10 with or without situs inversus	DNAAF2	55172	Homo sapiens (human)	Alliance of Genome Resources
DOID:8483	retinal artery occlusion	F5 IL10 IL6 LPA	2153 3569 3586 4018	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070391	developmental and epileptic encephalopathy 105 Aliases: DEE105 early infantile epileptic encephalopathy 105	HID1	283987	Homo sapiens (human)	Alliance of Genome Resources
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	2992	Homo sapiens (human)	Alliance of Genome Resources
DOID:13406	pulmonary sarcoidosis Aliases: lung Sarcoidosis	ABO BDNF C3 CCL5 CCR5 CCR7 CFTR CHI3L1 CXCR3 DEFB1 EGR1 HLA-DRB1 IL15 IL18R1 IL1RN LTA MUC1 NGF NOD2 NOS2 NR3C1 NTF3 NTRK1 SFTPA1 TGFB1 TLR2 TNC TNF TNFRSF1B	1080 1116 1234 1236 1672 1958 28 2833 2908 3123 3371 3557 3600 4049 4582 4803 4843 4908 4914 627 6352 64127 653509 7040 7097 7124 7133 718 8809	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111730	familial episodic pain syndrome 2 Aliases: FEPS2	SCN10A	6336	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090064	familial cold autoinflammatory syndrome 3	PLCG2	5336	Homo sapiens (human)	Alliance of Genome Resources

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