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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 **6976 - 7000** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0112228	lissencephaly 9 with complex brainstem malformation Aliases: LIS9 posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	MACF1	23499	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111158	SADDAN Aliases: SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans	FGFR3	2261	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060738	junctional epidermolysis bullosa non-Herlitz type Aliases: GABEB JEB-nH gen JEN-nH generalized atrophic benign epidermolysis bullosa generalized junctional epidermolysis bullosa, non-Herlitz type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa, Disentis type	COL17A1 ITGB4 LAMA3 LAMB3 LAMC2	1308 3691 3909 3914 3918	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080051	acromesomelic dysplasia, Hunter-Thompson type Aliases: acromesomelic dwarfism acromesomelic dysplasia-2C	GDF5	8200	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110666	congenital myasthenic syndrome 3A Aliases: CMS3A congenital myasthenic syndrome 3A, slow-channel	CHRND	1144	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110321	hypertrophic cardiomyopathy 15 Aliases: CMH15 cardiomyopathy familial hypertrophic 15	VCL	7414	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110739	neurodegeneration with brain iron accumulation 5 Aliases: BPAN Beta-Propeller Protein-Associated Neurodegeneration NBIA5 SENDA Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood	WDR45	11152	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060767	autosomal dominant Robinow syndrome 3 Aliases: DRS3	DVL3	1857	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:0110120	Axenfeld-Rieger syndrome type 1 Aliases: RIEG1 Rieger syndrome type 1	PITX2	5308	Homo sapiens (human)	Alliance of Genome Resources
DOID:12401	intermittent explosive disorder Aliases: explosive personality disorder	COMT	1312	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050578	occult macular dystrophy	RP1L1	94137	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Aliases: ALS17 (FORMERLY) AMYOTROPHIC LATERAL SCLEROSIS AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY) CHMP2B-RELATED CHMP2B-related frontotemporal dementia FRONTOTEMPORAL DEMENTIA FTD3 FTDALS7 amyotrophic lateral sclerosis type 17 chromosome 3-linked frontotemporal dementia	CHMP2B	25978	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis	CLCN3 CLCN5	1182 1184	Homo sapiens (human)	Alliance of Genome Resources
DOID:3193	peripheral nerve sheath neoplasm Aliases: neoplasm of the nerve Sheath nerve sheath tumour	LATS2	26524	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080506	Cornelia de Lange syndrome 2	SMC1A SMC1B	27127 8243	Homo sapiens (human)	Alliance of Genome Resources
DOID:3829	pituitary adenoma Aliases: adenoma of the Pituitary gland	AVPR1B CDKN1B SDHA	1027 553 6389	Homo sapiens (human)	Alliance of Genome Resources
DOID:13593	eclampsia Aliases: Eclampsia in puerperium Eclampsia, postpartum Postpartum eclampsia	IL6	3569	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080608	anterior segment dysgenesis 3	FOXC1	2296	Homo sapiens (human)	Alliance of Genome Resources
DOID:8893	psoriasis	ADRB2 AGER ALB ALOX12 ANXA1 APOE C2 CADM2 CAST CAT CCR2 CCR5 CCR6 CD40 CFB CFH CFI CLU COMT CTLA4 CYP1A1 ELN EPAS1 FABP5 FCGR2A FLT1 GBA1 HIF1A HLA-DQA1 HLA-DQB1 ICAM1 IL10 IL13 IL13RA1 IL17A IL20 IL23R IL25 IL2 IL3 IL4 IRAK1 ITGB2 KDR LTA LTBR MBL2 MKI67 NAMPT RBP4 SOD2 SPINT1 SPTLC2 STAT3 STAT4 TAP1 TGFB1 TLR2 TLR4 TNF TNFRSF1A TNFRSF1B TTC7A VEGFA	10135 1191 1234 1235 1312 149233 1493 154 1543 177 2006 2034 213 2171 2212 2321 239 253559 2629 301 3075 3091 3117 3119 3383 3426 348 3558 3562 3565 3586 3596 3597 3605 3654 3689 3791 4049 4055 4153 4288 50604 57217 5950 629 64806 6648 6692 6774 6775 6890 7040 7097 7099 7124 7132 7133 717 729230 7422 831 847 9517 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:707	B-cell lymphoma Aliases: B-cell lymphocytic neoplasm	ABCG2 BRD2 BTK CD40 EZH2 IL21R LGALS1	2146 3956 50615 6046 695 9429 958	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060614	ulnar-mammary syndrome Aliases: Pallister ulnar-mammary syndrome Schinzel syndrome	TBX3	6926	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111193	facioscapulohumeral muscular dystrophy 2 Aliases: FSHD2 facioscapulohumeral muscular dystrophy 1B facioscapulohumeral muscular dystrophy type 2	SMCHD1	23347	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080913	cerebrooculofacioskeletal syndrome 3	ERCC5	2073	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112240	Leber congenital amaurosis with early-onset deafness Aliases: LCAEOD	TUBB4B	10383	Homo sapiens (human)	Alliance of Genome Resources

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