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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 **12751 - 12775** of **15957** in total

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Disease ID	Disease Name	Gene Symbol ▼	Gene ID	Organism	Source
DOID:9111	cutaneous leishmaniasis Aliases: Asian Desert Cutaneous Leishmaniasis Leproid leishmaniasis diffuse cutaneous leishmaniasis	CAT CCR5 CD163 COL1A1 IL10 IL17A LTA MMP2 SLC11A1 SOD1 TLR2 TLR4 TLR9 TNF	1234 1277 3586 3605 4049 4313 54106 6556 6647 7097 7099 7124 847 9332	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081120	Graves ophthalmopathy Aliases: Graves orbitopathy Thyroid associated ophthalmopathy thyroid eye disease	CAT CCL2 CTLA4 ICAM1 IFNG IL10 IL1A IL1RN IL23R IL2 IL3 PPARG SERPINE1 TNF TSHR	149233 1493 3383 3458 3552 3557 3558 3562 3586 5054 5468 6347 7124 7253 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:631	fibromyalgia	CAT CCL2 COMT IL1RN	1312 3557 6347 847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060410	chromosome 1p36 deletion syndrome Aliases: 1p36 deletion syndrome deletion 1p36 monosomy 1p36	CASZ1 KCNAB2	54897 8514	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070526	PLACK syndrome Aliases: peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	CAST	831	Homo sapiens (human)	Alliance of Genome Resources
DOID:865	vasculitis Aliases: Angiitis	CAST IL10 MPO NOS3 SERPINA3	12 3586 4353 4846 831	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110663	congenital myasthenic syndrome 1A Aliases: CMS IIa CMS1A congenital myasthenic syndrome 1A, slow-channel congenital myasthenic syndrome type IIa	CAST CHRNA1	1134 831	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
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: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:0111322	idiopathic generalized epilepsy 8 Aliases: EIG8	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:12678	hypercalcemia	CASR CYP24A1 PTH1R SLC34A1	1591 5745 6569 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:13543	hyperparathyroidism	CASR CDC73 MYC TRPV6	4609 55503 79577 846	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:1929	supravalvular aortic stenosis Aliases: Supra-valvular aortic stenosis	CASQ2 ELN	2006 845	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:1002	endometritis	CASP6 CASP7 CASP9 IL1A	3552 839 840 842	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:14711	FG syndrome Aliases: Keller syndrome Opitz-Kaveggia syndrome	CASK MED12	8573 9968	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: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

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