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Results 1 - 10 of 165 > >>
EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
Blindness
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
unassigned
0
Blindness
Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
unassigned
0
Choanal Atresia
Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia.
unassigned
0
Leber Congenital Amaurosis
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
unassigned
0
Leber Congenital Amaurosis
Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
unassigned
0
Obesity, Abdominal
Gene expression profile following an oral unsaturated fat load in abdominal obese subjects.
unassigned
0
all-trans-retinol dehydrogenase (nad+) deficiency
Retinol dehydrogenase 10 is indispensible for spermatogenesis in juvenile males.
causal interaction
unassigned
1
0
Blindness
Retinol dehydrogenases RDH11 and RDH12 in the mouse retina: expression levels during development and regulation by oxidative stress.
causal interaction
unassigned
1
0
Blindness
Retinol dehydrogenase 12 detoxifies 4-hydroxynonenal in photoreceptor cells.
causal interaction
unassigned
1
0
Blindness
Which Leber congenital amaurosis patients are eligible for gene therapy trials?
causal interaction
unassigned
1
0
Results 1 - 10 of 165 > >>