emilyalsentzer commited on
Commit
dcc712b
1 Parent(s): 6ffe876

update causal gene discovery patients

Browse files
exomiser_gene_discovery_scores_attn.csv CHANGED
@@ -1,57 +1,79 @@
1
  patient_id,phenotypes,degrees,attention
2
- UDN-P2,Abnormality of vision,111,0.1183807775378227
3
- UDN-P2,Global developmental delay,1330,0.1499209105968475
4
- UDN-P2,Abnormality of the liver,65,0.0950504913926124
5
- UDN-P2,Failure to thrive in infancy,1,0.1553362309932708
6
- UDN-P2,Exocrine pancreatic insufficiency,4,0.0865935012698173
7
- UDN-P2,Abdominal pain,257,0.068713754415512
8
- UDN-P2,Asthma,177,0.0740201994776725
9
- UDN-P2,Duodenal atresia,34,0.064612977206707
10
- UDN-P2,Intestinal malrotation,91,0.0643364712595939
11
- UDN-P2,Gastroparesis,23,0.1230346783995628
12
- UDN-P1,Thick lower lip vermilion,1,0.0236996822059154
13
- UDN-P1,Hydrocephalus,304,0.0230413302779197
14
- UDN-P1,Microcephaly,1006,0.0316418893635273
15
- UDN-P1,Low anterior hairline,4,0.0270521882921457
16
- UDN-P1,Mandibular prognathia,6,0.026597810909152
17
- UDN-P1,Alacrima,1,0.0138036329299211
18
- UDN-P1,Thick eyebrow,8,0.0170831736177206
19
- UDN-P1,Exotropia,94,0.0167111363261938
20
- UDN-P1,Synophrys,3,0.0241384990513324
21
- UDN-P1,Delayed eruption of teeth,131,0.0224792174994945
22
- UDN-P1,Abnormal sternum morphology,51,0.0120808342471718
23
- UDN-P1,Hypertension,278,0.0193403456360101
24
- UDN-P1,Hypotonia,911,0.0355296544730663
25
- UDN-P1,Global developmental delay,1330,0.0301800202578306
26
- UDN-P1,Dystonia,360,0.0236831586807966
27
- UDN-P1,Absent speech,1,0.0214502979069948
28
- UDN-P1,Failure to thrive,648,0.0351606905460357
29
- UDN-P1,Growth delay,435,0.0286059584468603
30
- UDN-P1,Pancreatitis,63,0.0134885320439934
31
- UDN-P1,Overlapping toe,2,0.0212031248956918
32
- UDN-P1,Constipation,270,0.0162120759487152
33
- UDN-P1,Gastroesophageal reflux,268,0.0238284692168235
34
- UDN-P1,Cerebral atrophy,231,0.0270951297134161
35
- UDN-P1,Hypoplasia of the corpus callosum,332,0.0298781190067529
36
- UDN-P1,Respiratory insufficiency,325,0.0320345684885978
37
- UDN-P1,Ventriculomegaly,409,0.0279995389282703
38
- UDN-P1,Coarse hair,2,0.032378576695919
39
- UDN-P1,Drooling,85,0.0170378927141428
40
- UDN-P1,Febrile seizure (within the age range of 3 months to 6 years),62,0.0118239596486091
41
- UDN-P1,Developmental regression,203,0.0243585351854562
42
- UDN-P1,Abnormal cerebral white matter morphology,76,0.0176227763295173
43
- UDN-P1,Short stature,1167,0.0382893718779087
44
- UDN-P1,Chronic pancreatitis,1,0.0170067008584737
45
- UDN-P1,Premature loss of primary teeth,1,0.0167370326817035
46
- UDN-P1,Premature loss of teeth,32,0.0260231960564851
47
- UDN-P1,Chronic lung disease,1,0.0176592171192169
48
- UDN-P1,Moderate sensorineural hearing impairment,1,0.009951589629054
49
- UDN-P1,Laryngeal cleft,1,0.0077759157866239
50
- UDN-P1,Laryngeal calcification,1,0.0125970430672168
51
- UDN-P1,Low hanging columella,2,0.0163100585341453
52
- UDN-P1,Prominent eyelashes,1,0.024880614131689
53
- UDN-P1,Gastrostomy tube feeding in infancy,1,0.0276554562151432
54
- UDN-P1,Midface retrusion,1,0.0258742850273847
55
- UDN-P1,Premature adrenarche,1,0.0266624484211206
56
- UDN-P1,T2 hypointense brainstem,1,0.0004453512665349
57
- UDN-P1,T2 hypointense basal ganglia,49,0.0048909387551248
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1
  patient_id,phenotypes,degrees,attention
2
+ UDN-P2,Simple febrile seizure,1,0.1821544915437698
3
+ UDN-P2,Autism,437,0.0756760388612747
4
+ UDN-P2,Muscular hypotonia of the trunk,144,0.071331113576889
5
+ UDN-P2,Abnormal mitochondria in muscle tissue,2,0.0498904511332511
6
+ UDN-P2,Downturned corners of mouth,10,0.048310425132513
7
+ UDN-P2,Abnormality of coordination,9,0.0462948195636272
8
+ UDN-P2,Developmental regression,203,0.0459261648356914
9
+ UDN-P2,Delayed speech and language development,512,0.0430936887860298
10
+ UDN-P2,Narrow forehead,10,0.0407348088920116
11
+ UDN-P2,HP:0007930,502,0.0347550734877586
12
+ UDN-P2,Tapered finger,1,0.0334602817893028
13
+ UDN-P2,Astigmatism,135,0.0263907611370086
14
+ UDN-P2,Esotropia,121,0.0251658950001001
15
+ UDN-P2,Abnormal muscle tone,16,0.0247820187360048
16
+ UDN-P2,Global developmental delay,1330,0.0219300687313079
17
+ UDN-P2,Apraxia,47,0.0208667255938053
18
+ UDN-P2,Obesity,444,0.0207838024944067
19
+ UDN-P2,Brachydactyly,389,0.019670233130455
20
+ UDN-P2,Hypotelorism,2,0.019594058394432
21
+ UDN-P2,HP:0011398,911,0.0195294171571731
22
+ UDN-P2,HP:0006877,1425,0.0191374626010656
23
+ UDN-P2,Incoordination,62,0.0164797715842723
24
+ UDN-P2,Poor coordination,31,0.0149749955162405
25
+ UDN-P2,Speech apraxia,1,0.0129641536623239
26
+ UDN-P2,Obstructive sleep apnea,58,0.0122253587469458
27
+ UDN-P2,Sensory impairment,75,0.0113796005025506
28
+ UDN-P2,Cow milk allergy,1,0.0096608363091945
29
+ UDN-P2,Asthma,177,0.0092268791049718
30
+ UDN-P2,Muscle weakness,392,0.0088263200595974
31
+ UDN-P2,Delayed gross motor development,100,0.0087120095267891
32
+ UDN-P2,Polyhydramnios,213,0.0033694496378302
33
+ UDN-P2,Increased body weight,126,0.0027028108015656
34
+ UDN-P1,Laryngeal calcification,1,0.1418475359678268
35
+ UDN-P1,Thick lower lip vermilion,1,0.1197952106595039
36
+ UDN-P1,T2 hypointense basal ganglia,49,0.0538605600595474
37
+ UDN-P1,Premature loss of teeth,32,0.0516010001301765
38
+ UDN-P1,Coarse hair,2,0.051049243658781
39
+ UDN-P1,Febrile seizure (within the age range of 3 months to 6 years),62,0.0479606948792934
40
+ UDN-P1,Delayed eruption of teeth,131,0.039957158267498
41
+ UDN-P1,Premature adrenarche,1,0.0387096293270587
42
+ UDN-P1,Abnormal sternum morphology,51,0.0261683445423841
43
+ UDN-P1,Low anterior hairline,4,0.0244181603193283
44
+ UDN-P1,Hypoplasia of the corpus callosum,332,0.0241546090692281
45
+ UDN-P1,Moderate sensorineural hearing impairment,1,0.0214006286114454
46
+ UDN-P1,Premature loss of primary teeth,1,0.0209346357733011
47
+ UDN-P1,Ventriculomegaly,409,0.0208190511912107
48
+ UDN-P1,Thick eyebrow,8,0.0203704535961151
49
+ UDN-P1,Prominent eyelashes,1,0.019628481939435
50
+ UDN-P1,Mandibular prognathia,6,0.0188951771706342
51
+ UDN-P1,Absent speech,1,0.0186286736279726
52
+ UDN-P1,Gastrostomy tube feeding in infancy,1,0.015972651541233
53
+ UDN-P1,Developmental regression,203,0.0159714873880147
54
+ UDN-P1,Synophrys,3,0.0143400756642222
55
+ UDN-P1,Hypertension,278,0.0141365332528948
56
+ UDN-P1,Cerebral atrophy,231,0.0134260654449462
57
+ UDN-P1,Low hanging columella,2,0.0127169173210859
58
+ UDN-P1,Microcephaly,1006,0.0122076477855443
59
+ UDN-P1,Short stature,1167,0.0120520433411002
60
+ UDN-P1,Constipation,270,0.0114372400566935
61
+ UDN-P1,Failure to thrive,648,0.0112343775108456
62
+ UDN-P1,Growth delay,435,0.0110889645293354
63
+ UDN-P1,HP:0040199,1,0.0105574298650026
64
+ UDN-P1,Hydrocephalus,304,0.0098500475287437
65
+ UDN-P1,Alacrima,1,0.0098224878311157
66
+ UDN-P1,Chronic pancreatitis,1,0.007521613035351
67
+ UDN-P1,HP:0008033,94,0.0067969802767038
68
+ UDN-P1,Global developmental delay,1330,0.0066903717815876
69
+ UDN-P1,HP:0011398,911,0.0062526292167603
70
+ UDN-P1,Overlapping toe,2,0.0060891341418027
71
+ UDN-P1,Drooling,85,0.0057123596780002
72
+ UDN-P1,Gastroesophageal reflux,268,0.005148937460035
73
+ UDN-P1,Abnormal cerebral white matter morphology,76,0.0049364413134753
74
+ UDN-P1,Dystonia,360,0.0047838604077696
75
+ UDN-P1,Respiratory insufficiency,325,0.0039145173504948
76
+ UDN-P1,T2 hypointense brainstem,1,0.0023449312429875
77
+ UDN-P1,Chronic lung disease,1,0.0021787090227007
78
+ UDN-P1,Laryngeal cleft,1,0.0020497560035437
79
+ UDN-P1,Pancreatitis,63,0.0005664720083586