GlyCosmos Portal

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

Displaying entries **10801 - 10825** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0050127	sinusitis	CFB CFTR CHIA IL13 IL2 LTA MMP9 MUC5B NR3C1 PDGFB PLAU PLAUR SFTPA1 SFTPD TLR2 TLR4 TLR9	1080 27159 2908 3558 3596 4049 4318 5155 5328 5329 54106 629 6441 653509 7097 7099 727897	Homo sapiens (human)	Alliance of Genome Resources
DOID:2582	acatalasia Aliases: acatalasemia deficiency of catalase	CAT	847	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110500	autosomal recessive nonsyndromic deafness 42 Aliases: DFNB42 autosomal recessive deafness 42	ILDR1	286676	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080178	mucositis	ELANE MKI67 MUC2 MUC4 NOS2 PCNA ULK1	1991 4288 4583 4585 4843 5111 8408	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens	CFTR	1080	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112000	immunodeficiency 34 Aliases: AMCBX2 IMD34 X-linked MSMD due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency familial atypical mycobacteriosis X-linked 2 immunodeficiency 34, mycobacteriosis, X-linked	CYBB	1536	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050185	erythema multiforme	CD40 CD40LG CD8A HLA-DQB1 VEGFA	3119 7422 925 958 959	Homo sapiens (human)	Alliance of Genome Resources
DOID:14004	thoracic aortic aneurysm	ACTA1 ACTA2 ACTB ACTBL2 ACTC1 ACTG1 ADAM10 ADAM17 COL1A1 COL6A3 CXCR3 FLNA LOX MFAP5 MMP12 MMP14 MMP1 MMP2 MMP8 MMP9 MYH11 MYLK PRKG1 SERPINE1 THSD4 TIMP1 TIMP3	102 1277 1293 2316 2833 345651 4015 4312 4313 4317 4318 4321 4323 4629 4638 5054 5592 58 59 60 6868 70 7076 7078 71 79875 8076	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:906	peroxisomal disease Aliases: peroxisomal disorder	ACBD5	91452	Homo sapiens (human)	Alliance of Genome Resources
DOID:0080317	megalencephalic leukoencephalopathy with subcortical cysts 2B Aliases: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	HEPACAM	220296	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050152	aspiration pneumonia	ACE EDN1 IL1A TNF	1636 1906 3552 7124	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111672	primary hyperoxaluria type 3 Aliases: HP3 PH III primary hyperoxaluria type III	HOGA1	112817	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112234	microlissencephaly	TUBA1A TUBA1B TUBA1C TUBA4A	10376 7277 7846 84790	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111589	COACH syndrome Aliases: Gentile syndrome JS-H Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis	TMEM67	91147	Homo sapiens (human)	Alliance of Genome Resources
DOID:4297	scimitar syndrome Aliases: Halasz syndrome congenital venolobar syndrome hypogenetic lung syndrome mirror-image lung syndrome pulmonary venolobar syndrome total anomalous pulmonary venous return vena cava bronchovascular syndrome	PDGFRA	5156	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110326	hypertrophic cardiomyopathy 20 Aliases: CMH20 cardiomyopathy familial hypertrophic 20	NEXN	91624	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060276	pontocerebellar hypoplasia type 7	TOE1	114034	Homo sapiens (human)	Alliance of Genome Resources
DOID:3672	rhabdoid cancer Aliases: Rhabdoid sarcoma malignant rhabdoid tumour	MYC SMARCA4 SMARCB1	4609 6597 6598	Homo sapiens (human)	Alliance of Genome Resources
DOID:0050574	L-2-hydroxyglutaric aciduria Aliases: L-2-HYDROXYGLUTARIC ACIDEMIA	L2HGDH	79944	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:0050774	rapadilino syndrome	RECQL4	9401	Homo sapiens (human)	Alliance of Genome Resources
DOID:0112240	Leber congenital amaurosis with early-onset deafness Aliases: LCAEOD	TUBB4B	10383	Homo sapiens (human)	Alliance of Genome Resources
DOID:0110451	dilated cardiomyopathy 1O Aliases: CMD1O dilated cardiomyopathy with ventricular tachycardia	ABCC9	10060	Homo sapiens (human)	Alliance of Genome Resources
DOID:0060275	pontocerebellar hypoplasia type 6	RARS2	57038	Homo sapiens (human)	Alliance of Genome Resources

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