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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 **3176 - 3200** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▲	Gene ID	Organism	Source
DOID:9884	muscular dystrophy	CAPN3 CHKB COL6A1 COL6A3 DAG1 DMD FKRP FKTN LAMA1 LAMA2 LMNA LMNB1 LMNB2 POMGNT1 POMT1 POMT2 POPDC3 SGCA SGCB SGCD SGCG SGCZ SNTB2 SYNE1 TNF TRIM63 UTRN	10585 1120 1291 1293 137868 1605 1756 2218 23345 284217 29954 3908 4000 4001 55624 64208 6442 6443 6444 6445 6645 7124 7402 79147 825 84676 84823	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A Aliases: LGMD2A Leyden-Moebius muscular dystrophy limb-girdle muscular dystrophy due to calpain deficiency muscular dystrophy, limb-girdle, type 2A pelvofemoral muscular dystrophy primary calpainopathy	CAPN3	825	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110273	autosomal dominant limb-girdle muscular dystrophy	CAPN3	825	Homo sapiens (human)	Alliance of Genome Resources
DOID:674	cleft palate Aliases: Palatoschisis	CAPZB CDC42 COL11A2 COL2A1 COLEC11 FLNB GDF6 GOLGB1 MTHFD1 NECTIN1 ROR2 SDC2 SPECC1L UFD1	1280 1302 2317 23384 2804 392255 4522 4920 5818 6383 7353 78989 832 998	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050745	diffuse large B-cell lymphoma Aliases: DLBCL	CARD11 CD22 CD40 CD79B DICER1 EZH2 FCGR2A ICAM1 IL21R IRF4 MKI67 MYD88 PRDM1 SMURF2 TP53	2146 2212 23405 3383 3662 4288 4615 50615 639 64750 7157 84433 933 958 974	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111957	immunodeficiency 11A Aliases: CARD11 deficiency IMD11A SCID due to CARD11 deficiency severe combined immunodeficiency due to CARD11 deficiency	CARD11	84433	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111958	immunodeficiency 11B Aliases: IMD11B atopic dermatitis, elevated IgE, and eosinophilia immunodeficiency 11B with atopic dermatitis	CARD11	84433	Homo sapiens (human)	Alliance of Genome Resources
DOID:9212	pityriasis rubra pilaris Aliases: Devergie's disease	CARD14	79092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080475	psoriasis 2	CARD14	79092	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111984	immunodeficiency 58 Aliases: IMD58 severe combined immunodeficiency due to CARMIL2 deficiency	CARMIL2	146206	Homo sapiens (human)	Alliance of Genome Resources
DOID:14711	FG syndrome Aliases: Keller syndrome Opitz-Kaveggia syndrome	CASK MED12	8573 9968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060807	syndromic X-linked intellectual disability Najm type Aliases: MICPCH X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome mental retardation and microcephaly with pontine and cerebellar hypoplasia	CASK	8573	Homo sapiens (human)	Alliance of Genome Resources
DOID:1002	endometritis	CASP6 CASP7 CASP9 IL1A	3552 839 840 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:12337	varicocele Aliases: Scrotal varices	CASP9 FAS HIF1A HSPD1 IL1A	3091 3329 355 3552 842	Homo sapiens (human)	Alliance of Genome Resources
DOID:1929	supravalvular aortic stenosis Aliases: Supra-valvular aortic stenosis	CASQ2 ELN	2006 845	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060676	catecholaminergic polymorphic ventricular tachycardia 2 Aliases: CVPT2	CASQ2	845	Homo sapiens (human)	Alliance of Genome Resources
DOID:13543	hyperparathyroidism	CASR CDC73 MYC TRPV6	4609 55503 79577 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:585	nephrolithiasis Aliases: Stone - kidney/ureter kidney stones	CASR CSF1R FLT1 FLT3 FLT4 KDR KIT SLC34A1 SLC9A1 SLC9A2 SLC9A3 SLC9A4 SLC9A5 TGFB1 YAP1	10413 1436 2321 2322 2324 3791 3815 389015 6548 6549 6550 6553 6569 7040 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:12678	hypercalcemia	CASR CYP24A1 PTH1R SLC34A1	1591 5745 6569 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060700	familial hypocalciuric hypercalcemia 1 Aliases: FHH type 1 HHC1 familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia type I hypocalciuric hypercalcemia type I	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090107	autosomal dominant hypocalcemia 1 Aliases: HYPOC1	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090109	autosomal dominant hypocalcemia Aliases: HYPOC	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111322	idiopathic generalized epilepsy 8 Aliases: EIG8	CASR	846	Homo sapiens (human)	Alliance of Genome Resources
DOID:9182	pemphigus	CAST CAT CD36 CD40 CD40LG HLA-DQA1 HLA-DQB1 HLA-DRB1 IL2 MBL2	3117 3119 3123 3558 4153 831 847 948 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:767	muscular atrophy Aliases: Amyotrophia Muscle wasting Wasting - muscle	CAST CFL1 CHUK COL1A2 CRHR2 CTSL CTSV DAG1 DMD GHR HSF1 HSP90AB1 IKBKB KRAS MSTN MTMR4 MTOR NEDD4 NR3C1 RELB RPS6KB1 SERPINE1 SGCA TFRC TGIF1 TIMM23 TRIM63	100287932 1072 1147 1278 1395 1514 1515 1605 1756 2475 2660 2690 2908 3297 3326 3551 3845 4734 5054 5971 6198 6442 7037 7050 831 84676 9110	Homo sapiens (human)	Alliance of Genome Resources

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