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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 **4926 - 4950** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110985	Joubert syndrome 16 Aliases: JBTS16	Tmem138	72982	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111415	trichohepatoenteric syndrome 1 Aliases: THES1	Skic3	218343	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3650	lactic acidosis	Dlat Pygl	110095 235339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060074	ductal carcinoma in situ	Areg Bnip3 Erbb2 Erbb3 Erbb4 Flt1 Mmp2 Mmp9 Notch4 Pak2 Ptgs2 Rela Src St14 Stat5a Top2a Trp53 Tymp Vegfa	11839 12176 13866 13867 13869 14254 17390 17395 18132 19143 19225 19697 20779 20850 21973 22059 22339 224105 72962	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112250	Gaucher's disease type IIIC Aliases: GD3C Gaucher disease type 3C Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher-like disease cardiovascular Gaucher disease	Gba1	14466	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090136	complex cortical dysplasia with other brain malformations 6 Aliases: CDCBM56	Tubb5	22154	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111292	idiopathic generalized epilepsy 10 Aliases: EIG10	Gabrd	14403	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110556	autosomal dominant nonsyndromic deafness 27 Aliases: DFNA27 autosomal dominant deafness 27	Rest	19712	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:986	alopecia areata Aliases: Circumscribed alopecia	Ctla4 Dnmt1 H2-Aa H2-Ab1 Hdac1 Il1rn Il2 Notch4	12477 13433 14960 14961 16181 16183 18132 433759	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3192	neurilemmoma Aliases: Psammomatous schwannoma schwannoma	Atad5 Kdr Pecam1 Snca	16542 18613 20617 237877	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8923	skin melanoma Aliases: cutaneous melanoma malignant ear melanoma malignant lip melanoma malignant lower limb melanoma malignant melanoma of ear and/or external auricular canal malignant melanoma of skin of lower limb malignant melanoma of skin of trunk except scrotum malignant melanoma of skin of upper limb malignant neck melanoma malignant scalp melanoma malignant trunk melanoma malignant upper limb melanoma	Aff4 Arhgap44 Ccl2 Cd40 Ddr1 Fanca Grm1 Icam1 Mmp1a Mmp2 Mmp9 Oca2 Stat3 Tyr	12305 14087 14816 15894 17390 17395 18431 20296 20848 216831 21939 22173 83995 93736	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060058	lymphoma Aliases: lymphoid cancer	Chd4 Rela	107932 19697	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B Aliases: CMTDI1 CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B DI-CMTB	Dnm1 Dnm2 Dnm3	103967 13429 13430	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111732	Eiken syndrome Aliases: Eiken skeletal dysplasia bone modeling defect of hands and feet	Pth1r	19228	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1 Aliases: GPIBD2 HPMRS1 glycosylphosphatidylinositol biosynthesis defect 2 hyperphosphatasia with mental retardation syndrome 1	Pigv	230801	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111252	vestibular schwannomatosis Aliases: ACN BANF NF2 NF2-related schwannomatosis SWN3 SWNV acoustic neurofibromatosis bilateral acoustic neurinoma bilateral acoustic neurofibromatosis bilateral acoustic schwannomas central neurofibromatosis familial acoustic neuromas neurofibromatosis 2 neurofibromatosis type II schwannomatosis 3	Vegfa	22339	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070041	autosomal dominant intellectual developmental disorder 11 Aliases: MRD11 autosomal dominant mental retardation 11 autosomal dominant non-syndromic intellectual disability 11	Epb41l1	13821	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050859	hemorrhagic cystitis	Gsr	14782	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:255	hemangioma	Mmp2 Slc2a1	17390 20525	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070309	absence epilepsy	Cacna1a	12286	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14291	Noonan syndrome with multiple lentigines Aliases: Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome Generalized lentiginosis Gorlin syndrome II LEOPARD syndrome Lentiginosis profusa syndrome Moynahan syndrome Multiple lentigines syndrome Progressive cardiomyopathic lentiginosis	Ptpn11	19247	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma Aliases: cutaneous T cell lymphoma cutaneous T-cell lymphoma	Ccr6 Il4	12458 16189	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080788	proximal symphalangism 2	Gdf5	14563	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:13711	dental fluorosis Aliases: Intrinsic enamel discolouration of fluorosis Mottled teeth Mottling of enamel	Dnm1l	74006	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080743	transverse myelitis	Aqp4	11829	Mus musculus (house mouse)	Alliance of Genome Resources

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