GlyCosmos Portal

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

Displaying entries **626 - 650** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism	Source
DOID:2388	renal artery disease Aliases: renal vascular disease vascular disorder of kidney	EDN1	1906	Homo sapiens (human)	Alliance of Genome Resources
DOID:4621	holoprosencephaly Aliases: Holoprosencephaly sequence	Pgap1 Shh	29499 316400	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:4535	hypotrichosis	Dsg4	16769	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11650	bronchopulmonary dysplasia Aliases: Bronchopulmonary dysplasia of newborn Chronic lung disease of prematurity Neonatal chronic lung disease Perinatal bronchopulmonary dysplasia Respiratory insufficiency neonatal chronic respiratory disease	Dg Idgf1 Idgf2 Idgf3 Idgf4 Idgf5 Idgf6	31926 34978 34979 34981 36773 36868 37104	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:0060194	amyotrophic lateral sclerosis type 2 Aliases: ALS2 amyotrophic lateral sclerosis 2 amyotrophic lateral sclerosis 2, juvenile	Als2	74018	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110662	congenital myasthenic syndrome 1B Aliases: CMS1B congenital myasthenic syndrome 1B, fast-channel	CHRNA1	1134	Homo sapiens (human)	Alliance of Genome Resources
DOID:299	adenocarcinoma	ERS1	850438	Saccharomyces cerevisiae S288C	Alliance of Genome Resources
DOID:0110828	Usher syndrome type 3 Aliases: USH3	Clrn1	229320	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0090091	hypogonadotropic hypogonadism 23 with or without anosmia Aliases: 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Pasqualini syndrome fertile eunuch syndrome leydig cell hypoplasia due to LHB deficiency	Lhb	25329	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0080428	developmental and epileptic encephalopathy 45 Aliases: DEE45 early infantile epileptic encephalopathy 45	gab-1	176691	Caenorhabditis elegans	Alliance of Genome Resources
DOID:0050861	colorectal adenocarcinoma	ABCB1 BRD8 CA12 CD44 CYP24A1 CYP4F8 DOK3 ERBB3 ERCC6 EZH2 FAM151A FGFR2 FLT3 FOS GSK3B IL16 JUN JUNB KCNH1 KDR KMT2B MYD88 NCOA2 NOD2 PCSK4 RAF1 RICTOR RNASET2 RUNX1 SLC7A5 SMARCB1 STAT5B STRA6 TP53 TPST1 TYMS XRCC1 YME1L1	10499 10730 10902 11283 1591 2065 2074 2146 2263 2322 2353 253260 2932 338094 3603 3725 3726 3756 3791 4615 5243 54760 5894 64127 64220 6598 6777 7157 7298 7515 771 79930 8140 8460 861 8635 960 9757	Homo sapiens (human)	Alliance of Genome Resources
DOID:10685	separation anxiety disorder	Ngf	18049	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060468	Holt-Oram syndrome Aliases: atrio-digital syndrome atriodigital dysplasia heart-hand syndrome	SALL4	57167	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111019	cone-rod dystrophy 12 Aliases: CORD12	prom1a	322857	Danio rerio (zebrafish)	Alliance of Genome Resources
DOID:0060697	hyperekplexia 2 Aliases: HKPX2	Rdl	39054	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:12932	endomyocardial fibrosis Aliases: African endomyocardial fibrosis Becker's disease Endomyocardial sclerosis obscure African cardiomyopathy	Acer Ance	34189 34805	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1074	kidney failure Aliases: renal failure	45566 dop-1 klo-1 parp-1 syg-2	172841 177557 180714 181561 266823	Caenorhabditis elegans	Alliance of Genome Resources
DOID:962	neurofibroma	kit.L	373579	Xenopus laevis (African clawed frog)	Alliance of Genome Resources
DOID:0081074	Teebi hypertelorism syndrome 2	Cdh11	84407	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:9428	intracranial hypertension Aliases: Raised intracranial pressure	Shab	38352	Drosophila melanogaster (fruit fly)	Alliance of Genome Resources
DOID:1925	Coffin-Siris syndrome Aliases: Dwarfism-Onychodysplasia Fifth Digit Syndrome Short Stature-Onychodysplasia.	Arid1a Bicra Phf10 Smarcc1 Smarcc2 Smarcd1 Smarcd2	20588 243842 68094 72057 83796 83797 93760	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080579	3-Methylcrotonyl-CoA carboxylase 1 deficiency	MCCC1	56922	Homo sapiens (human)	Alliance of Genome Resources
DOID:0111268	autosomal recessive hyaline body myopathy Aliases: MSMB Myopathy, myosin storage, autosomal recessive congenital myopathy 7B	Myh7	140781	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy Aliases: ENFL	Chrnb2	54239	Rattus norvegicus (Norway rat)	Alliance of Genome Resources
DOID:0111960	immunodeficiency 15A Aliases: IMD15A	Ikbkb	16150	Mus musculus (house mouse)	Alliance of Genome Resources

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