Assertion list
mutation (primary) → Causes

Results from Ascent++: 122
mutationCauses reduction 0.65
mutationCauses disease 0.62
mutationCauses cystic fibrosis 0.59
mutationCauses frameshift 0.55
mutationCauses a loss of information 0.49
mutationCauses loss of function 0.48
mutationCauses rp 0.48
mutationCauses condition 0.46
mutationCauses syndrome 0.44
mutationCauses mo 0.44
mutationCauses hypertrophic cardiomyopathy 0.43
mutationCauses severe phenotype 0.42
mutationCauses retinitis pigmentosa 0.42
mutationCauses albinism 0.41
mutationCauses cell death 0.40
mutationCauses death 0.40
mutationCauses rett syndrome 0.40
mutationCauses symptom 0.40
mutationCauses duchenne muscular dystrophy 0.39
mutationCauses significant changes 0.39
mutationCauses beta-thalassemia 0.39
mutationCauses tumor 0.38
mutationCauses parkinson’s disease 0.38
mutationCauses disorder 0.38
mutationCauses less generation of asl(l-23 0.35
mutationCauses amyotrophic lateral sclerosis 0.35
mutationCauses autosomal dominant retinitis pi… 0.34
mutationCauses autosomal recessive juvenile pa… 0.34
mutationCauses x-linked mental retardation 0.34
mutationCauses familial amyotrophic lateral sc… 0.34
mutationCauses hemophilia 0.34
mutationCauses alström syndrome 0.34
mutationCauses intellectual disability 0.33
mutationCauses deafness 0.33
mutationCauses abnormal growth 0.33
mutationCauses cystinuria 0.32
mutationCauses difference 0.32
mutationCauses embryonic lethality 0.31
mutationCauses aicardi-goutieres syndrome 0.31
mutationCauses dmd 0.31
mutationCauses muscular dystrophy 0.31
mutationCauses mental retardation 0.30
mutationCauses delay 0.29
mutationCauses early onset familial alzheimer'… 0.29
mutationCauses gain 0.28
mutationCauses cataract 0.28
mutationCauses dilated cardiomyopathy 0.28
mutationCauses inherited retinal degenerations 0.28
mutationCauses familial focal segmental glomer… 0.27
mutationCauses cmt 0.27
mutationCauses hht 0.27
mutationCauses language 0.27
mutationCauses speciation 0.27
mutationCauses waardenburg syndrome 0.27
mutationCauses arrhythmia 0.27
mutationCauses premature aging 0.27
mutationCauses serious problems 0.27
mutationCauses primary ciliary dyskinesia 0.26
mutationCauses dipg 0.25
mutationCauses monogenic diabetes 0.25
mutationCauses osteogenesis imperfecta 0.25
mutationCauses unique form of ncl 0.25
mutationCauses bipolar disorder 0.25
mutationCauses craniosynostosis 0.25
mutationCauses gaucher disease 0.25
mutationCauses autosomal 0.24
mutationCauses developmental defects 0.24
mutationCauses fanconi anemia 0.24
mutationCauses fragile x syndrome 0.24
mutationCauses microcephaly 0.24
mutationCauses multisystem proteinopathy 0.24
mutationCauses park8-linked parkinson's disease 0.24
mutationCauses sickle cell disease 0.24
mutationCauses autosomal recessive disease 0.22
mutationCauses congenital sideroblastic anemia 0.22
mutationCauses episodic ataxia 0.22
mutationCauses noonan syndrome 0.22
mutationCauses optic atrophy 0.22
mutationCauses spinal muscular atrophy 0.22
mutationCauses sterility 0.22
mutationCauses thalassemia 0.22
mutationCauses achromatopsia 0.19
mutationCauses cerebral cavernous malformations 0.19
mutationCauses dystonia 0.19
mutationCauses emery-dreifuss muscular dystrop… 0.19
mutationCauses generalized lymph vessel dyspla… 0.19
mutationCauses hemochromatosis 0.19
mutationCauses leigh syndrome 0.19
mutationCauses more than 200 diseases 0.19
mutationCauses myopathy 0.19
mutationCauses neurodevelopmental disorders 0.19
mutationCauses other inherited retinopathies 0.19
mutationCauses paraganglioma 0.19
mutationCauses silver syndrome 0.19
mutationCauses tay-sachs disease 0.19
mutationCauses a cascade of unrepaired mutatio… 0.16
mutationCauses a loss of race memory 0.16
mutationCauses achondroplasia 0.16
mutationCauses aortic valve disease 0.16
mutationCauses apert syndrome 0.16
mutationCauses bardet-biedl syndrome 0.16
mutationCauses bbs 0.16
mutationCauses brugada syndrome 0.16
mutationCauses caa 0.16
mutationCauses coffin-siris syndrome 0.16
mutationCauses congenital hypothyroidism 0.16
mutationCauses epidermolysis bullosa 0.16
mutationCauses epileptic encephalopathy 0.16
mutationCauses hemiplegia 0.16
mutationCauses hereditary diffuse leukoencepha… 0.16
mutationCauses hsp 0.16
mutationCauses iron overload 0.16
mutationCauses liver disease 0.16
mutationCauses lysosomal storage disorder 0.16
mutationCauses marfan syndrome 0.16
mutationCauses primary erythermalgia 0.16
mutationCauses renal tubular acidosis 0.16
mutationCauses seckel syndrome 0.16
mutationCauses severe neural tube defects 0.16
mutationCauses steric hindrance 0.16
mutationCauses x-linked intellectual disability 0.16
mutationCauses autosomal dominant hypercholest… 0.08