GlyCosmos Portal

Displaying entries **1 - 25** of **10109** in total

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Gene ID	Gene Name	Gene Symbol	Disease Ontology ▲
3293	hydroxysteroid 17-beta dehydrogenase 3	HSD17B3 SDR12C2 short chain dehydrogenase/reductase family 12C, member 2	17-beta hydroxysteroid dehydrogenase 3 deficiency disorder of sexual development
55526	dehydrogenase E1 and transketolase domain containing 1	DHTKD1	2-aminoadipic 2-oxoadipic aciduria Charcot-Marie-Tooth disease axonal type 2Q
79944	L-2-hydroxyglutarate dehydrogenase	L2HGDH 2-hydroxyglutarate dehydrogenase FLJ12618	2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria cerebellar ataxia hereditary spastic paraplegia visual epilepsy
9820	cullin 7	CUL7	3-M syndrome
23363	obscurin like cytoskeletal adaptor 1	OBSL1	3-M syndrome
3155	3-hydroxy-3-methylglutaryl-CoA lyase	HMGCL HL hydroxymethylglutaricaciduria hydroxymethylglutaryl-CoA lyase	3-hydroxy-3-methylglutaryl-CoA lyase deficiency amino acid metabolic disorder
26275	3-hydroxyisobutyryl-CoA hydrolase	HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency
56922	methylcrotonyl-CoA carboxylase subunit 1	MCCC1	3-methylcrotonyl-CoA carboxylase 1 deficiency
80207	outer mitochondrial membrane lipid metabolism regulator OPA3	OPA3	3-methylglutaconic aciduria type 3 optic atrophy 3
5648	MBL associated serine protease 1	MASP1 C4/C2 activating component of Ra-reactive factor MAP-1 MASP MASP-3 Map44 mannose-binding lectin-associated serine protease 1	3MC syndrome 1
78989	collectin subfamily member 11	COLEC11 CL-11 CL-K1 Collectin K1 MGC3279	3MC syndrome 2
10584	collectin subfamily member 10	COLEC10 CL-10 CL-L1	3MC syndrome 3
2492	follicle stimulating hormone receptor	FSHR	46 XX gonadal dysgenesis ovarian dysgenesis 1 ovarian hyperstimulation syndrome
7026	nuclear receptor subfamily 2 group F member 2	NR2F2	46,XX sex reversal 5
57647	DEAH-box helicase 37	DHX37	46,XY complete gonadal dysgenesis
190	nuclear receptor subfamily 0 group B member 1	NR0B1	46,XY sex reversal 2 X-linked adrenal hypoplasia congenita
84733	chromobox 2	CBX2	46,XY sex reversal 5
4214	mitogen-activated protein kinase kinase kinase 1	MAP3K1	46,XY sex reversal 6 breast cancer diffuse gastric cancer esophagus squamous cell carcinoma lung non-small cell carcinoma rectum cancer stomach cancer
1646	aldo-keto reductase family 1 member C2	AKR1C2 BABP DD DD2 HAKRD MCDR2 dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III	46,XY sex reversal 8
1109	aldo-keto reductase family 1 member C4	AKR1C4 3-alpha hydroxysteroid dehydrogenase, type I 3-alpha-HSD C11 CDR DD4 HAKRA MGC22581 chlordecone reductase dihydrodiol dehydrogenase 4	46,XY sex reversal 8
1910	endothelin receptor type B	EDNRB	ABCD syndrome Hirschsprung's disease Waardenburg syndrome type 4A Waardenburg syndrome asthma
2778	GNAS complex locus	GNAS	ACTH-independent macronodular adrenal hyperplasia 1 cholangiocarcinoma hypertension obesity pituitary adenoma 3 progressive osseous heteroplasia pseudohypoparathyroidism type 1A pseudohypoparathyroidism type 1B pseudohypoparathyroidism pseudopseudohypoparathyroidism
9101	ubiquitin specific peptidase 8	USP8	ACTH-secreting pituitary adenoma
128	alcohol dehydrogenase 5 (class III), chi polypeptide	ADH5 ADH-3 ADHX GSNOR S-nitrosoglutathione reductase	AMED syndrome asthma
351	amyloid beta precursor protein	APP	APP-related cerebral amyloid angiopathy Alzheimer's disease 1 Alzheimer's disease cognitive disorder traumatic brain injury

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