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