GlyCosmos Portal

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

Displaying entries **9026 - 9050** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0110034	X-linked Alport syndrome Aliases: nephropathy and deafness, X-linked	COL4A5	1287	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060071	pre-malignant neoplasm	ACE ATM BAX CASP9 FAS GLI1 GLI3 INSR MAPK9 MUC2 PPM1D SFTPD SHH SMAD4 SMO STAT3 TP53	1636 2735 2737 355 3643 4089 4583 472 5601 581 6441 6469 6608 6774 7157 842 8493	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080191	PTEN hamartoma tumor syndrome	PTEN	5728	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111275	speech-language disorder-1 Aliases: CAS articulatory apraxia childhood apraxia of speech developmental apraxia of speech developmental verbal dyspraxia speech and language disorder with orofacial dyspraxia speech-language disorder type 1	FOXP2	93986	Homo sapiens (human)	Alliance of Genome Resources
DOID:2043	hepatitis B Aliases: chronic hepatitis B hepatitis B infection	CA9 CCL5 CCR3 CCR5 CD68 CTLA4 CTNNB1 CYP27B1 DOCK8 EFTUD2 EIF2AK2 FAS FASLG HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 IFNA2 IFNAR2 IFNGR1 IL10 IL10RB IL2 IL2RB IL4 IL6 KIR3DS1 MAP4K4 MBL2 MPL MYD88 PDCD1 PLAU PLAUR PREX2 SAMHD1 TLR3 TLR9 TNF TREM1 UGT1A1 UGT1A6 XRCC1	1232 1234 1493 1499 1594 25939 3113 3115 3117 3119 3440 3455 3459 355 3558 356 3560 3565 3569 3586 3588 3813 4153 4352 4615 5133 5328 5329 54106 54210 54578 54658 5610 6352 7098 7124 7515 768 80243 81704 9343 9448 968	Homo sapiens (human)	Alliance of Genome Resources
DOID:1935	Bardet-Biedl syndrome	BBS2 BBS9 CEP131 SCAPER TBC1D32 TMEM67 TTC8	123016 221322 22994 27241 49855 583 91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:1063	interstitial nephritis Aliases: renal tubulo-interstitial disease	CCL11 CCL7	6354 6356	Homo sapiens (human)	Alliance of Genome Resources
DOID:9834	hyperopia Aliases: Far-sightedness farsightedness hypermetropia	MFRP MYRF NOG	745 83552 9241	Homo sapiens (human)	Alliance of Genome Resources
DOID:3308	embryonal carcinoma Aliases: primary extragonadal embryonal carcinoma	AFP CHEK2 FGF8 INHA POU5F1 RB1	11200 174 2253 3623 5460 5925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110636	congenital merosin-deficient muscular dystrophy 1A Aliases: CMD1A MDC1A Merosin-negative congenital muscular dystrophy congenital muscular dystrophy due to laminin alpha2 deficiency	LAMA2	3908	Homo sapiens (human)	Alliance of Genome Resources
DOID:14669	acrodysostosis	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060874	isolated growth hormone deficiency type IB Aliases: IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh	GHRHR	2692	Homo sapiens (human)	Alliance of Genome Resources
DOID:5200	urinary tract obstruction Aliases: Obstructive Uropathy urinary obstruction	ADAMTS1 BNC2	54796 9510	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050155	sensory system disease	TBL1X TBL1Y	6907 90665	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111648	ectopia lentis with ectopia of pupil Aliases: ectopia lentis et pupillae	ADAMTSL4	54507	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111571	Weyers acrofacial dysostosis Aliases: Curry-Hall syndrome WAD Weyers acrodental dysostosis acrofacial dysostosis, Weyers type	EVC2	132884	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050855	renal fibrosis	ACE ADAM17 AGER CLU CYBB CYP2J2 ECE1 EDNRA ENG FCAR GFER GPR21 GPR52 IFNG KRAS LEPR MMP1 MMP9 PPARGC1A SERPINE1 STAT6 TLR2 TLR4	10891 1191 1536 1573 1636 177 1889 1909 2022 2204 2671 2844 3458 3845 3953 4312 4318 5054 6778 6868 7097 7099 9293	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080253	Meckel syndrome 13	TMEM107	84314	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110958	Gaucher's disease type II Aliases: GD II GD2 Gaucher Disease, Acute Neuronopathic Type Infantile Cerebral Gaucher Disease	GBA1	2629	Homo sapiens (human)	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111847	osteogenesis imperfecta type 19 Aliases: OI19 osteogenesis imperfecta type XIX	MBTPS2	51360	Homo sapiens (human)	Alliance of Genome Resources
DOID:0090052	dystonia 24	ANO3	63982	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080021	Schmid metaphyseal chondrodysplasia Aliases: Japanese type spondylometaphyseal dysplasia Schmid type metaphyseal dysplasia	COL10A1	1300	Homo sapiens (human)	Alliance of Genome Resources
DOID:13374	fibrodysplasia ossificans progressiva Aliases: Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis	ACVR1 ACVRL1 BMP4	652 90 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111089	Fanconi anemia complementation group D1 Aliases: FAD1 FANCD1	BRCA2	675	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112081	nuclear type mitochondrial complex I deficiency 8 Aliases: MC1DN8	NDUFS3	4722	Homo sapiens (human)	Alliance of Genome Resources

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