SHEPHERD / gene_discovery_scores_attn.csv
emilyalsentzer's picture
update causal gene discovery patients
6ffe876 verified
raw
history blame
3.87 kB
patient_id,phenotypes,degrees,attention
UDN-P2,Simple febrile seizure,1,0.1821544915437698
UDN-P2,Autism,437,0.0756760388612747
UDN-P2,Muscular hypotonia of the trunk,144,0.071331113576889
UDN-P2,Abnormal mitochondria in muscle tissue,2,0.0498904511332511
UDN-P2,Downturned corners of mouth,10,0.048310425132513
UDN-P2,Abnormality of coordination,9,0.0462948195636272
UDN-P2,Developmental regression,203,0.0459261648356914
UDN-P2,Delayed speech and language development,512,0.0430936887860298
UDN-P2,Narrow forehead,10,0.0407348088920116
UDN-P2,HP:0007930,502,0.0347550734877586
UDN-P2,Tapered finger,1,0.0334602817893028
UDN-P2,Astigmatism,135,0.0263907611370086
UDN-P2,Esotropia,121,0.0251658950001001
UDN-P2,Abnormal muscle tone,16,0.0247820187360048
UDN-P2,Global developmental delay,1330,0.0219300687313079
UDN-P2,Apraxia,47,0.0208667255938053
UDN-P2,Obesity,444,0.0207838024944067
UDN-P2,Brachydactyly,389,0.019670233130455
UDN-P2,Hypotelorism,2,0.019594058394432
UDN-P2,HP:0011398,911,0.0195294171571731
UDN-P2,HP:0006877,1425,0.0191374626010656
UDN-P2,Incoordination,62,0.0164797715842723
UDN-P2,Poor coordination,31,0.0149749955162405
UDN-P2,Speech apraxia,1,0.0129641536623239
UDN-P2,Obstructive sleep apnea,58,0.0122253587469458
UDN-P2,Sensory impairment,75,0.0113796005025506
UDN-P2,Cow milk allergy,1,0.0096608363091945
UDN-P2,Asthma,177,0.0092268791049718
UDN-P2,Muscle weakness,392,0.0088263200595974
UDN-P2,Delayed gross motor development,100,0.0087120095267891
UDN-P2,Polyhydramnios,213,0.0033694496378302
UDN-P2,Increased body weight,126,0.0027028108015656
UDN-P1,Laryngeal calcification,1,0.1418475359678268
UDN-P1,Thick lower lip vermilion,1,0.1197952106595039
UDN-P1,T2 hypointense basal ganglia,49,0.0538605600595474
UDN-P1,Premature loss of teeth,32,0.0516010001301765
UDN-P1,Coarse hair,2,0.051049243658781
UDN-P1,Febrile seizure (within the age range of 3 months to 6 years),62,0.0479606948792934
UDN-P1,Delayed eruption of teeth,131,0.039957158267498
UDN-P1,Premature adrenarche,1,0.0387096293270587
UDN-P1,Abnormal sternum morphology,51,0.0261683445423841
UDN-P1,Low anterior hairline,4,0.0244181603193283
UDN-P1,Hypoplasia of the corpus callosum,332,0.0241546090692281
UDN-P1,Moderate sensorineural hearing impairment,1,0.0214006286114454
UDN-P1,Premature loss of primary teeth,1,0.0209346357733011
UDN-P1,Ventriculomegaly,409,0.0208190511912107
UDN-P1,Thick eyebrow,8,0.0203704535961151
UDN-P1,Prominent eyelashes,1,0.019628481939435
UDN-P1,Mandibular prognathia,6,0.0188951771706342
UDN-P1,Absent speech,1,0.0186286736279726
UDN-P1,Gastrostomy tube feeding in infancy,1,0.015972651541233
UDN-P1,Developmental regression,203,0.0159714873880147
UDN-P1,Synophrys,3,0.0143400756642222
UDN-P1,Hypertension,278,0.0141365332528948
UDN-P1,Cerebral atrophy,231,0.0134260654449462
UDN-P1,Low hanging columella,2,0.0127169173210859
UDN-P1,Microcephaly,1006,0.0122076477855443
UDN-P1,Short stature,1167,0.0120520433411002
UDN-P1,Constipation,270,0.0114372400566935
UDN-P1,Failure to thrive,648,0.0112343775108456
UDN-P1,Growth delay,435,0.0110889645293354
UDN-P1,HP:0040199,1,0.0105574298650026
UDN-P1,Hydrocephalus,304,0.0098500475287437
UDN-P1,Alacrima,1,0.0098224878311157
UDN-P1,Chronic pancreatitis,1,0.007521613035351
UDN-P1,HP:0008033,94,0.0067969802767038
UDN-P1,Global developmental delay,1330,0.0066903717815876
UDN-P1,HP:0011398,911,0.0062526292167603
UDN-P1,Overlapping toe,2,0.0060891341418027
UDN-P1,Drooling,85,0.0057123596780002
UDN-P1,Gastroesophageal reflux,268,0.005148937460035
UDN-P1,Abnormal cerebral white matter morphology,76,0.0049364413134753
UDN-P1,Dystonia,360,0.0047838604077696
UDN-P1,Respiratory insufficiency,325,0.0039145173504948
UDN-P1,T2 hypointense brainstem,1,0.0023449312429875
UDN-P1,Chronic lung disease,1,0.0021787090227007
UDN-P1,Laryngeal cleft,1,0.0020497560035437
UDN-P1,Pancreatitis,63,0.0005664720083586