GlyCosmos Portal

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **15301 - 15325** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:0060364	Galloway-Mowat syndrome 1 Aliases: Galloway syndrome SCAR5 autosomal recessive spinocerebellar ataxia 5 microcephaly, hiatal hernia and nephrotic syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome	Nup133	234865	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050921	pharynx squamous cell carcinoma	clptm1l	436653	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0050628	advanced sleep phase syndrome Aliases: familial advanced sleep-phase syndrome	Per2	63840	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:1984	rectal benign neoplasm Aliases: Rectal tumor neoplasm of rectum rectum neoplasm	FOS PIK3CA PIK3CB	2353 5290 5291	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060569	hypertrichotic osteochondrodysplasia Cantu type Aliases: Cantu syndrome	Abcc9	20928	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:10937	impulse control disorder	PRL	5617	Homo sapiens (human)	Alliance of Genome Resources
DOID:3965	Merkel cell carcinoma Aliases: Trabecular adenocarcinoma trabecular carcinoma	CD68 FGFR3	2261 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111863	X-linked congenital bilateral absence of vas deferens Aliases: CBAVDX	Adgrg2	237175	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:12678	hypercalcemia	CASR CYP24A1 PTH1R SLC34A1	1591 5745 6569 846	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110839	Usher syndrome type 2C Aliases: USH2C Usher syndrome IIC Usher syndrome type IIC	abts-1	172613	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0070468	Yoon-Bellen neurodevelopmental syndrome Aliases: YOBELN	OGDH OGDHL	4967 55753	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080998	acute necrotizing pancreatitis	BTG2 CALCA CCL2 CD46 CD59 CTSB ICAM1 IL17A IL1RN IL6 MIF MMP2 NOS1 NOS2 PDX1 RELA SELP SERPINE1 SERPINF2 SERPING1 TACR1 TBXAS1 TLR2 TLR4 TLR9	1508 3383 3557 3569 3605 3651 4179 4282 4313 4842 4843 5054 5345 54106 5970 6347 6403 6869 6916 7097 7099 710 7832 796 966	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110136	Bardet-Biedl syndrome 14 Aliases: BBS14	Cep290 Tmem67	216274 329795	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070388	developmental and epileptic encephalopathy 102 Aliases: DEE102 early infantile epileptic encephalopathy 102	Slc38a3	76257	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4006	bladder urothelial carcinoma Aliases: bladder transitional cell carcinoma transitional cell carcinoma of bladder urinary bladder urothelial carcinoma urothelial bladder carcinoma	btl htl	39564 42160	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:9258	Waardenburg syndrome Aliases: Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome	EDNRB KITLG MITF	1910 4254 4286	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	CANT1 XYLT1	124583 64131	Homo sapiens (human)	Alliance of Genome Resources
DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome	FOXL2	668	Homo sapiens (human)	Alliance of Genome Resources
DOID:1432	blindness Aliases: vision impairment vision loss visual impairment	Aqp4	25293	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0060230	basal ganglia calcification Aliases: Fahr disease	Jam2 Myorg Pdgfb Pdgfrb Slc20a2	18591 18596 20516 329828 67374	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1485	cystic fibrosis Aliases: CF mucoviscidosis	ABCB11 ABCB1 ABCB4 ABCB5 ABCC12 ABCC4 ADRB1 ADRB2 ADRB3 AGER C5 CCL11 CCL2 CCR3 CD14 CD40LG CFTR CLCA1 CLCN2 CSF3R CXCR3 CYP1A1 EDEM1 EDN1 FAS FASLG FCGR2A GCLC HAVCR2 HFE HLA-G HSPA1A HSPD1 IGFBP3 IL13 IL17A IL18BP IL1A IL1RN IL6 IL9 IL9R LEP LTA MBL2 MIF MMP9 MPO MUC1 MUC2 MUC5AC MUC5B NOS1 NOS2 NOS3 PPARA PRSS1 PTGDR2 PTGS2 PTX3 SCNN1B SERPINA3 SFTPA1 SFTPB SFTPC SFTPD TGFB1 TIMP1 TLR4 TLR5 TLR9 TNF	10068 10257 1080 11251 1179 1181 12 1232 1441 153 154 1543 155 177 1906 2212 2729 2833 3077 3135 3303 3329 340273 3486 355 3552 3557 356 3569 3578 3581 3596 3605 3952 4049 4153 4282 4318 4353 4582 4583 4586 4842 4843 4846 5243 5244 54106 5465 5644 5743 5806 6338 6347 6356 6439 6440 6441 653509 7040 7076 7099 7100 7124 727 727897 84868 8647 929 94160 959 9695	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070155	hereditary sensory and autonomic neuropathy type 2A Aliases: HSAN2A hereditary sensory and autonomic neuropathy type IIA	WNK1	65125	Homo sapiens (human)	Alliance of Genome Resources
DOID:2870	endometrial adenocarcinoma Aliases: adenocarcinoma of endometrium adenocarcinoma of the Endometrium adenocarcinoma of uterus endometrial adenoacanthoma endometrial endometrioid adenocarcinoma endometrial endometrioid adenocarcinoma with squamous differentiation endometrioid adenoma or carcinoma endometrioid adenomas and carcinomas endometrioid carcinoma of Endometrium	C49C8.5 Y43C5A.2 gpx-3 gpx-5	177668 177911 181178 182513	Caenorhabditis elegans	Alliance of Genome Resources
DOID:3525	middle cerebral artery infarction	OGG1 TDH1 TDH2 TDH3 VVS1	852543 853106 853395 853465 854942	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:7474	malignant pleural mesothelioma Aliases: malignant mesothelioma of pleura	BAP1 CHRNA7 EZH2 FMR1 FXR1 FXR2 IL7R KDM6A MLH1 NCOA2 SETD2 SLC7A5 SMO	10499 1139 2146 2332 29072 3575 4292 6608 7403 8087 8140 8314 9513	Homo sapiens (human)	Alliance of Genome Resources

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