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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 **7401 - 7425** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0050814	temtamy preaxial brachydactyly syndrome Aliases: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE	chsy1.L chsy1.S	108711484 108712816	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:8712	neurofibromatosis	NF1	4763	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080309	fatal infantile hypertonic myofibrillar myopathy	Cryab	25420	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1324	lung cancer	ACE ACSL3 ALX4 ATR CA12 CALR CCDC116 CDKN1B CFTR CHD4 CHRNA3 CHRNA5 CHRNA7 CHRNB4 CLPTM1L COMT CSF1R CTNNB1 CYP1A1 CYP24A1 DAGLA DNMT1 DVL3 EGFR ERBB2 ERCC5 ERCC6 ESCO2 EZH2 FASLG FGF9 FOXA1 FOXM1 GPX1 GPX3 HP HPR HS3ST2 IDH2 IL1R2 IRS4 KRAS LRP1B MAP2K4 MAT2A MBD4 MBL2 MEF2D MKI67 MLH1 MMP1 MMP3 MPO MPZL3 MSH2 MYC MYD88 NCOA6 NFKB1 NOD2 PIK3CA POLE PRDM1 PTGS2 RAC1 RBM10 RECQL RICTOR RNASET2 ROBO1 SETDB1 SFTPB SLCO1B3 SOD2 SOX30 SOX9 SRSF6 STIM1 TERT TNC TPR TRIT1 TRPC4 TRPC7 TTR XPC XRCC1 XRN2	1027 1080 11063 1108 1136 1138 1139 1143 1312 1436 1499 1543 157570 1591 1636 164592 1786 1857 1956 196264 2064 2073 2074 2146 2181 2254 22803 2305 23054 253260 28234 2876 2878 3169 3240 3250 3371 3418 356 3845 4144 4153 4209 4288 4292 4312 4314 4353 4436 4609 4615 4790 5290 53353 5426 545 54802 57113 5743 5879 5965 60529 6091 639 64127 6416 6431 6439 6648 6662 6786 7015 7175 7223 7276 747 7508 7515 771 7850 81037 811 8241 8471 8635 8930 9869 9956	Homo sapiens (human)	Alliance of Genome Resources
DOID:3500	gallbladder adenocarcinoma Aliases: adenocarcinoma of the gallbladder	Ace	24310	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0070112	Niemann-Pick disease type B	PPN1	852063	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:8534	gastroesophageal reflux disease Aliases: Acid reflux GERD GERD - Gastro-esophageal reflux disease Gastresophageal reflux Gastro-esophageal reflux Gastroesophageal reflux	PLA2G2A TLR2	5320 7097	Homo sapiens (human)	Alliance of Genome Resources
DOID:13139	crescentic glomerulonephritis	csf1ra	64274	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0070055	Xia-Gibbs Syndrome Aliases: MRD25 autosomal dominant mental retardation 25	AHDC1	27245	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111072	myostatin-related muscle hypertrophy Aliases: MSLHP	MSTN	2660	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111461	cardiofaciocutaneous syndrome 2 Aliases: CFC2	Kras	16653	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111156	spermatogenic failure 9 Aliases: globozoospermia male infertility due to round-headed spermatozoa	CG6659	32854	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060933	developmental delay, dysmorphic facies, and brain anomalies Aliases: DEVDFB	U2af2	22185	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080056	achondrogenesis type II	col2a1	394828	Xenopus tropicalis (tropical clawed frog)	Alliance of Genome Resources
DOID:2378	relapsing-remitting multiple sclerosis Aliases: RRMS Relapsing-remitting MS	ADAMTS14 APOA4 CD36 CD80 CSPG4 CTSS FAS GRN HAVCR1 HSPA8 MMP19 MMP9 NEFH NEFL NOD2 NOG SERPINE1 TIMP1	140766 1464 1520 26762 2896 3312 337 355 4318 4327 4744 4747 5054 64127 7076 9241 941 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:5577	gastrinoma Aliases: Gastrin Secreting tumor Gastrin cell tumour malignant gastrinoma	IGF1R MET MGMT SLC2A2	3480 4233 4255 6514	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090118	congenital amegakaryocytic thrombocytopenia Aliases: CAMT congenital amegakaryocytic thrombocytopenic purpura	MPL	4352	Homo sapiens (human)	Alliance of Genome Resources
DOID:1920	hyperuricemia Aliases: Blood urate raized uricacidemia	ins.L ins.S	378695 378696	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:557	kidney disease Aliases: impaired renal function disease nephropathy	Abcc3 Ccl2 Cst3 Cubn F7 G6pd Havcr1 Kirrel1 Kl Lcn2 Mlxipl Mmp9 Nphs1 Ramp2 Tgfbr1 Tgfbr2 Timd2 Tnf Tnfrsf1a Umod Xylt1	140668 170496 171078 24377 24770 24835 25128 25307 25625 260320 286934 287222 29591 310695 58966 64133 64563 80848 81687 81810 83504	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0081180	autosomal recessive intellectual developmental disorder 12	st3gal3a st3gal3b	393326 407659	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:700	mitochondrial metabolism disease	Iars2 Lars2 Letm2 Ndufs1 Ndufs4 Ndufs8 Slc25a4 Slc25a5 Tomm70a Vars1	102436 11739 11740 17993 22321 225887 227197 270035 28185 381314	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060898	Parkinson's disease 20 Aliases: early-onset Parkinson disease 20 early-onset Parkinson's disease 20	SYNJ1	8867	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110677	congenital myasthenic syndrome 4B Aliases: CMS4B congenital myasthenic syndrome 4B fast-channel	unc-63	172150	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0080557	congenital disorder of glycosylation Ie Aliases: congenital disorder of glycosylation 1e	Dpm1	35240	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0090092	hypogonadotropic hypogonadism 3 with or without anosmia	Prokr2	192649	Rattus norvegicus (Norway rat)	Alliance of Genome Resources

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