Total: 4312 results
3118(4.0%)
SF3B1
Abnormality of refraction
myelodysplastic syndrome (OMIM) Uveal melanoma (ORDO) Acquired idiopathic sideroblastic anemia (ORDO)
Somatic mutation
ATXN10
Urinary urgency
spinocerebellar ataxia type 10 (OMIM) Spinocerebellar ataxia type 10 (ORDO)
Autosomal dominant inheritance Genetic anticipation
ALDOB
Proximal tubulopathy
hereditary fructose intolerance (OMIM) Hereditary fructose intolerance (ORDO)
Autosomal recessive inheritance
ACAT1
Agitation
beta-ketothiolase deficiency (OMIM) Beta-ketothiolase deficiency (ORDO)
HADH
Pigmentary retinopathy
3-hydroxyacyl-CoA dehydrogenase deficiency (OMIM) hyperinsulinemic hypoglycemia, familial, 4 (OMIM) Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency (ORDO)
Autosomal recessive inheritance Heterogeneous
CDKN2B
Retinopathy
Familial melanoma (ORDO) Multiple endocrine neoplasia type 1 (ORDO)
Autosomal dominant inheritance
TXNRD2
Recurrent urinary tract infections
glucocorticoid deficiency 5 (OMIM) Familial isolated dilated cardiomyopathy (ORDO) Familial glucocorticoid deficiency (ORDO)
GABRB3
Urinary incontinence
epilepsy, childhood absence, susceptibility to, 5 (OMIM) developmental and epileptic encephalopathy, 43 (OMIM) Lennox-Gastaut syndrome (ORDO) Childhood absence epilepsy (ORDO)
Autosomal dominant inheritance Autosomal recessive inheritance Heterogeneous
NDUFA13
Hearing impairment
mitochondrial complex 1 deficiency, nuclear type 28 (OMIM) Leigh syndrome with leukodystrophy (ORDO)
GLRX5
Strabismus
spasticity-ataxia-gait anomalies syndrome (OMIM) sideroblastic anemia 3 (OMIM) Childhood-onset spasticity with hyperglycinemia (ORDO)