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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 **14726 - 14750** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:6039	uveal melanoma Aliases: melanoma of Uvea	Bap1 Grm1 H2-D1 H2-K1 H2-M2 H2-Q10 H2-Q1 H2-Q2 H2-Q4 H2-Q6 H2-Q7 H2-T3 Kdr Mbd4 Mcam Vegfa	104416 110557 14816 14964 14972 14990 15006 15007 15013 15015 15018 15043 16542 17193 22339 84004	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112140	retinitis pigmentosa 83 Aliases: RP83	Arl3	56350	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112108	myofibrillar myopathy 10 Aliases: MFM10	SVIL	6840	Homo sapiens (human)	Alliance of Genome Resources
DOID:1255	trichostrongyloidiasis	Foxp1	108655	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:535	sleep disorder Aliases: Non-organic sleep disorder	daf-2 ntr-1 ntr-2	175410 184471 188227	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0112381	muscular dystrophy-dystroglycanopathy type C12 Aliases: LGMD due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency MDDGC12 muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related	POMK	84197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111620	corneal dystrophy-perceptive deafness syndrome Aliases: CDPD CDPD1 Harboyan syndrome corneal dystrophy and perceptive deafness corneal dystrophy with progressive deafness corneal endothelial dystrophy and perceptive deafness	Slc4a11	269356	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:5603	T-cell acute lymphoblastic leukemia Aliases: Precursor T Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-cell acute lymphocytic leukaemia T-cell leukemia T-cell lymphoblastic leukemia/lymphoma acute T cell leukemia precursor T-lymphoblastic lymphoma/leukemia	GCY1 NUP116 NUP145 YPR1	851974 852788 854287 855066	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0050464	Farber lipogranulomatosis Aliases: Farber disease N-laurylsphingosine deacylase deficiency acid ceramidase deficiency	Asah1	11886	Mus musculus (house mouse)	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:0110160	Charcot-Marie-Tooth disease axonal type 2T Aliases: AR-CMT2T CMT2T Charcot-Marie-Tooth neuropathy type 2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T	nep-2	188090	Caenorhabditis elegans	Alliance of Genome Resources
DOID:161	keratosis	Mpo	17523	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080414	developmental and epileptic encephalopathy 15 Aliases: DEE15 early infantile epileptic encephalopathy 15	st3gal3a st3gal3b	393326 407659	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070048	GAND syndrome Aliases: MRD18 autosomal dominant intellectual developmental disorder 18 autosomal dominant mental retardation 18 autosomal dominant non-syndromic intellectual disability 18	Gatad2b	229542	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:8869	neuromyelitis optica Aliases: Devic's disease Devic's syndrome	Aqp4 Cd59a Cd59b H2-Ab1 H2-Eb1 Il21 Mmp9 Nefh Nefl	11829 12509 14961 14969 17395 18039 333883 380684 60505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112379	muscular dystrophy-dystroglycanopathy type B4 Aliases: MDDGB4 congenital muscular dystrophy FKTN-related	Fktn	362520	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080933	immunoglobulin light chain amyloidosis Aliases: AL amyloidosis Amyloidosis primary systemic Light chain amyloidosis Primary AL amyloidosis Primary systemic AL amyloidosis Primary systemic amyloidosis Systemic AL amyloidsis	Mmp2	81686	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110862	congenital stationary night blindness autosomal dominant 1 Aliases: CSNBAD1 rhodopsin-related congenital stationary night blindness	Rho	212541	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2030	anxiety disorder Aliases: anxiety anxiety state	ADRA2A BDNF CNR2 CREB1 CTNND2 CYP3A5 DRD2 ELK1 GAD1 GDNF HCN1 HDAC2 HTR1A HTR1B HTR2C HTR7 KDM3B L1CAM LEF1 MANEA MC4R NCOR1 NODAL NPY1R NTRK2 POMC SCN1A SCN2A SCN3A SCN9A SLC18A2 SLC6A4 TSC2	1269 1385 150 1501 1577 1813 2002 2571 2668 3066 3350 3351 3358 3363 348980 3897 4160 4838 4886 4915 51176 51780 5443 627 6323 6326 6328 6335 6532 6571 7249 79694 9611	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060462	Desbuquois dysplasia Aliases: Desbuquois syndrome micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification	apy-1 sqv-6	181019 190099	Caenorhabditis elegans	Alliance of Genome Resources
DOID:14743	trichorhinophalangeal syndrome type I Aliases: trichorhinophalangeal syndrome type 1 type I trichorhinophalangeal syndrome	TRPS1	7227	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050548	hereditary sensory neuropathy Aliases: familial dysautonomia, type II hereditary sensory and autonomic neuropathy	Dnmt1 Dst Ntrk1 Scn11a Wnk1	13433 13518 18211 232341 24046	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070241	primary coenzyme Q10 deficiency 4 Aliases: COQ10D4 SCAR9 coenzyme Q10 deficiency, primary, 4 spinocerebellar ataxia, autosomal recessive 9	Coq8a	360887	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0110357	retinitis pigmentosa 35 Aliases: RP35	SEMA4A	64218	Homo sapiens (human)	Alliance of Genome Resources
DOID:1070	primary open angle glaucoma Aliases: chronic simple glaucoma	OGG1	854942	Saccharomyces cerevisiae S288C	Alliance of Genome Resources

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