Total: 4312 results
3118(4.0%)
TNNI3
Sensorineural hearing impairment
cardiomyopathy, familial restrictive, 1 (OMIM) dilated cardiomyopathy 2A (OMIM) dilated cardiomyopathy 1FF (OMIM) hypertrophic cardiomyopathy 7 (OMIM) Familial isolated dilated cardiomyopathy (ORDO) Familial isolated restrictive cardiomyopathy (ORDO)
Autosomal dominant inheritance Autosomal recessive inheritance Heterogeneous
TPP1
Progressive visual loss
neuronal ceroid lipofuscinosis 2 (OMIM) autosomal recessive spinocerebellar ataxia 7 (OMIM) Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORDO)
Autosomal recessive inheritance
NHLRC1
Visual loss
Lafora disease (OMIM) Lafora disease (ORDO)
Autosomal recessive inheritance Heterogeneous
EPM2A
KCND3
Urinary incontinence
spinocerebellar ataxia type 19/22 (OMIM) Brugada syndrome 9 (OMIM) Brugada syndrome (ORDO) Spinocerebellar ataxia type 19/22 (ORDO)
Autosomal dominant inheritance
HMBS
Urinary retention
acute intermittent porphyria (OMIM) Acute intermittent porphyria (ORDO)
CDKN1B
Abnormality of the urinary system
multiple endocrine neoplasia type 4 (OMIM) Multiple endocrine neoplasia type 4 (ORDO) Multiple endocrine neoplasia type 1 (ORDO)
LMNB1
Urinary urgency
adult-onset autosomal dominant demyelinating leukodystrophy (OMIM) Adult-onset autosomal dominant leukodystrophy (ORDO)
PSEN2
Alzheimer disease 4 (OMIM) dilated cardiomyopathy 1V (OMIM) Early-onset autosomal dominant Alzheimer disease (ORDO) Familial isolated dilated cardiomyopathy (ORDO)
ATXN7
Slow saccadic eye movements
spinocerebellar ataxia type 7 (OMIM) Spinocerebellar ataxia type 7 (ORDO)
Autosomal dominant inheritance Genetic anticipation with paternal anticipation bias
SF3B1
Abnormality of refraction
myelodysplastic syndrome (OMIM) Uveal melanoma (ORDO) Acquired idiopathic sideroblastic anemia (ORDO)
Somatic mutation
ATXN10
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)
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)
CDKN2B
Retinopathy
Familial melanoma (ORDO) Multiple endocrine neoplasia type 1 (ORDO)
TXNRD2
Recurrent urinary tract infections
glucocorticoid deficiency 5 (OMIM) Familial isolated dilated cardiomyopathy (ORDO) Familial glucocorticoid deficiency (ORDO)
GABRB3
epilepsy, childhood absence, susceptibility to, 5 (OMIM) developmental and epileptic encephalopathy, 43 (OMIM) Lennox-Gastaut syndrome (ORDO) Childhood absence epilepsy (ORDO)
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)