GlyCosmos Portal

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

Displaying entries **4601 - 4625** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▲	Source
DOID:0110432	dilated cardiomyopathy 1NN Aliases: CMD1NN	RAF1	5894	Homo sapiens (human)	Alliance of Genome Resources
DOID:670	amphetamine abuse	AKT1 BDNF CAT CD4 CD8A CFH COMT CREB1 FOS FOSB GABBR1 GABRG2 GAD1 GAD2 GRIA1 MAP3K6 NPY1R SLC18A1 SLC18A2 SNCA	1312 1385 207 2353 2354 2550 2566 2571 2572 2890 3075 4886 627 6570 6571 6622 847 9064 920 925	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110307	hypertrophic cardiomyopathy 1 Aliases: CMH1 cardiomyopathy, familial hypertrophic 1 hypertrophic cardiomyopathy 19	MYH7	4625	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050946	Charlevoix-Saguenay spastic ataxia	ANKFY1 SACS	26278 51479	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081274	peroxisome biogenesis disorder 14B	PEX11B	8799	Homo sapiens (human)	Alliance of Genome Resources
DOID:971	tendinitis	CCN2 FMOD LRP5 MMP1 POSTN	10631 1490 2331 4041 4312	Homo sapiens (human)	Alliance of Genome Resources
DOID:14669	acrodysostosis	PRKAR1A	5573	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081072	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Aliases: Cerebro-facio-thoracic dysplasia Cerebrofaciothoracic dysplasia Pascual-Castroviejo syndrome TMCO1 defect syndrome	TMCO1	54499	Homo sapiens (human)	Alliance of Genome Resources
DOID:540	strabismus	BMP4	652	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080425	developmental and epileptic encephalopathy 47 Aliases: DEE47 early infantile epileptic encephalopathy 47	FGF10 FGF16 FGF3 FGF5 FGF6 FGF7	2248 2250 2251 2252 2255 8823	Homo sapiens (human)	Alliance of Genome Resources
DOID:1712	aortic valve stenosis Aliases: Aortic stenosis Rheumatic aortic stenosis rheumatic aortic valve stenosis	ADRB1 APOB BAMBI EGR1 ELN ENO3 LGALS3 MMP1 NFATC1 NPPC OGT SP7 TNF TNFRSF11B	121340 153 1958 2006 2027 25805 338 3958 4312 4772 4880 4982 7124 8473	Homo sapiens (human)	Alliance of Genome Resources
DOID:2987	familial mediterranean fever Aliases: FMF benign paroxysmal peritonitis	ABCB1 ACE ADIPOQ CAT CYP3A4 F2 IL6 LPA MEFV NOD2 POMC SERPINE1 THBD TLR4	1576 1636 2147 3569 4018 4210 5054 5243 5443 64127 7056 7099 847 9370	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060037	developmental disorder of mental health	ASH1L DLG1 GABRB1 GABRB2 GABRB3 GABRD GABRP GABRQ GABRR1 GABRR2 GABRR3 GIGYF2 GRIN2A GRIN2B GRIN2C GRIN2D NAA15 NAA16 NCKAP1 NCOR1 NCOR2 PARD3 PLXNB1 PLXNB2 PLXNB3 PLXND1 RASAL2 RASAL3 RING1 RNF2 RUNX3 SIN3A SIN3B SRCAP SYNGAP1 TACR1 TCF12 TCF3 TCF4	10787 10847 1739 200959 23129 23309 23654 2560 2561 2562 2563 2568 2569 2570 25942 26058 2903 2904 2905 2906 5364 5365 55870 55879 56288 6015 6045 64926 6869 6925 6929 6938 79612 80155 864 8831 9462 9611 9612	Homo sapiens (human)	Alliance of Genome Resources
DOID:8997	polycythemia vera Aliases: Osler-Vaquez syndrome Polycythaemia rubra vera Proliferative polycythaemia chronic erythremia	CD36 ELANE EPOR HFE	1991 2057 3077 948	Homo sapiens (human)	Alliance of Genome Resources
DOID:11294	arteriovenous malformation Aliases: Arteriovenous hemangioma Cirsoid aneurysm Racemose Angioma Racemose aneurysm Racemose hemangioma	ACVRL1 ENG GLMN MAP2 MMP9 RASA1 TEK	11146 2022 4133 4318 5921 7010 94	Homo sapiens (human)	Alliance of Genome Resources
DOID:0070271	Lynch syndrome 1 Aliases: FCC1 HNPCC1 familial nonpolyposis colon cancer type 1 hereditary nonpolyposis colorectal cancer type 1	MSH2	4436	Homo sapiens (human)	Alliance of Genome Resources
DOID:2855	hyperthyroxinemia	ALB	213	Homo sapiens (human)	Alliance of Genome Resources
DOID:3314	angiomyolipoma	OGG1 PTEN STAT1 STAT3 TSC2	4968 5728 6772 6774 7249	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080027	spondyloepimetaphyseal dysplasia	COL2A1	1280	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050752	amyotrophic lateral sclerosis type 8 Aliases: ALS8 amyotrophic lateral sclerosis 8	VAPA VAPB	9217 9218	Homo sapiens (human)	Alliance of Genome Resources
DOID:3033	colon signet ring adenocarcinoma Aliases: Colonic Signet Ring adenocarcinoma	RUNX1	861	Homo sapiens (human)	Alliance of Genome Resources
DOID:0081361	spastic quadriplegic cerebral palsy 3 Aliases: CPSQ3	ADD1 ADD2 ADD3	118 119 120	Homo sapiens (human)	Alliance of Genome Resources
DOID:5041	esophageal cancer Aliases: Ca lower third oesophagus Ca middle third oesophagus esophagus cancer malignant neoplasm of distal third of esophagus malignant neoplasm of lower third of oesophagus malignant neoplasm of middle third of oesophagus malignant neoplasm of proximal third of esophagus malignant neoplasm of upper third esophagus malignant tumor of Distal Third of esophagus malignant tumor of Proximal Third of esophagus malignant tumor of abdominal esophagus malignant tumor of the middle Third of the esophagus	AKT1 CTNNA1 CYP1A1 CYP24A1 GPX3 IL10 IL1R2 IL5 LZTS1 MXI1 MYD88 PIK3CA PTEN TNFAIP3 XRCC1	11178 1495 1543 1591 207 2878 3567 3586 4601 4615 5290 5728 7128 7515 7850	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080628	alopecia-mental retardation syndrome 1	AHSG	197	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111258	pentosuria Aliases: L-xylulose reductase deficiency L-xylulosuria PNTSU essential pentosuria xylitol dehydrogenase deficiency	DCXR	51181	Homo sapiens (human)	Alliance of Genome Resources

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