SHEPHERD / exomiser_gene_discovery_scores_attn.csv
Alsentzer
initial commit
568c4f3
patient_id,phenotypes,degrees,attention
UDN-P2,Abnormality of vision,111,0.1183807775378227
UDN-P2,Global developmental delay,1330,0.1499209105968475
UDN-P2,Abnormality of the liver,65,0.0950504913926124
UDN-P2,Failure to thrive in infancy,1,0.1553362309932708
UDN-P2,Exocrine pancreatic insufficiency,4,0.0865935012698173
UDN-P2,Abdominal pain,257,0.068713754415512
UDN-P2,Asthma,177,0.0740201994776725
UDN-P2,Duodenal atresia,34,0.064612977206707
UDN-P2,Intestinal malrotation,91,0.0643364712595939
UDN-P2,Gastroparesis,23,0.1230346783995628
UDN-P1,Thick lower lip vermilion,1,0.0236996822059154
UDN-P1,Hydrocephalus,304,0.0230413302779197
UDN-P1,Microcephaly,1006,0.0316418893635273
UDN-P1,Low anterior hairline,4,0.0270521882921457
UDN-P1,Mandibular prognathia,6,0.026597810909152
UDN-P1,Alacrima,1,0.0138036329299211
UDN-P1,Thick eyebrow,8,0.0170831736177206
UDN-P1,Exotropia,94,0.0167111363261938
UDN-P1,Synophrys,3,0.0241384990513324
UDN-P1,Delayed eruption of teeth,131,0.0224792174994945
UDN-P1,Abnormal sternum morphology,51,0.0120808342471718
UDN-P1,Hypertension,278,0.0193403456360101
UDN-P1,Hypotonia,911,0.0355296544730663
UDN-P1,Global developmental delay,1330,0.0301800202578306
UDN-P1,Dystonia,360,0.0236831586807966
UDN-P1,Absent speech,1,0.0214502979069948
UDN-P1,Failure to thrive,648,0.0351606905460357
UDN-P1,Growth delay,435,0.0286059584468603
UDN-P1,Pancreatitis,63,0.0134885320439934
UDN-P1,Overlapping toe,2,0.0212031248956918
UDN-P1,Constipation,270,0.0162120759487152
UDN-P1,Gastroesophageal reflux,268,0.0238284692168235
UDN-P1,Cerebral atrophy,231,0.0270951297134161
UDN-P1,Hypoplasia of the corpus callosum,332,0.0298781190067529
UDN-P1,Respiratory insufficiency,325,0.0320345684885978
UDN-P1,Ventriculomegaly,409,0.0279995389282703
UDN-P1,Coarse hair,2,0.032378576695919
UDN-P1,Drooling,85,0.0170378927141428
UDN-P1,Febrile seizure (within the age range of 3 months to 6 years),62,0.0118239596486091
UDN-P1,Developmental regression,203,0.0243585351854562
UDN-P1,Abnormal cerebral white matter morphology,76,0.0176227763295173
UDN-P1,Short stature,1167,0.0382893718779087
UDN-P1,Chronic pancreatitis,1,0.0170067008584737
UDN-P1,Premature loss of primary teeth,1,0.0167370326817035
UDN-P1,Premature loss of teeth,32,0.0260231960564851
UDN-P1,Chronic lung disease,1,0.0176592171192169
UDN-P1,Moderate sensorineural hearing impairment,1,0.009951589629054
UDN-P1,Laryngeal cleft,1,0.0077759157866239
UDN-P1,Laryngeal calcification,1,0.0125970430672168
UDN-P1,Low hanging columella,2,0.0163100585341453
UDN-P1,Prominent eyelashes,1,0.024880614131689
UDN-P1,Gastrostomy tube feeding in infancy,1,0.0276554562151432
UDN-P1,Midface retrusion,1,0.0258742850273847
UDN-P1,Premature adrenarche,1,0.0266624484211206
UDN-P1,T2 hypointense brainstem,1,0.0004453512665349
UDN-P1,T2 hypointense basal ganglia,49,0.0048909387551248