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@@ -1,668 +1,236 @@
1
  {
2
- "558": {
3
- "name": "Marfan syndrome",
4
- "disease": "ORPHA:558",
5
- "verified_candidates": [
6
- {
7
- "candidate": "HP:0003318",
8
- "kind": "phenotype",
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- "decision": "ACCEPT",
10
- "confidence": 0.983,
11
- "votes": [
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- {
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- "by": "phenotype",
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- "vote": "NEUTRAL",
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- "evidence": "no direct disease\u2192phenotype edge to HP:0003318; proximity only"
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- },
17
- {
18
- "by": "world_model",
19
- "vote": "KEEP",
20
- "evidence": "Pillar-B onset hazard 0.98 \u2265 0.5"
21
- }
22
- ]
23
- },
24
- {
25
- "candidate": "HP:0010646",
26
- "kind": "phenotype",
27
- "decision": "ACCEPT",
28
- "confidence": 0.982,
29
- "votes": [
30
- {
31
- "by": "phenotype",
32
- "vote": "NEUTRAL",
33
- "evidence": "no direct disease\u2192phenotype edge to HP:0010646; proximity only"
34
- },
35
- {
36
- "by": "world_model",
37
- "vote": "KEEP",
38
- "evidence": "Pillar-B onset hazard 0.98 \u2265 0.5"
39
- }
40
- ]
41
- },
42
- {
43
- "candidate": "HP:0010499",
44
- "kind": "phenotype",
45
- "decision": "ACCEPT",
46
- "confidence": 0.982,
47
- "votes": [
48
- {
49
- "by": "phenotype",
50
- "vote": "NEUTRAL",
51
- "evidence": "no direct disease\u2192phenotype edge to HP:0010499; proximity only"
52
- },
53
- {
54
- "by": "world_model",
55
- "vote": "KEEP",
56
- "evidence": "Pillar-B onset hazard 0.98 \u2265 0.5"
57
- }
58
- ]
59
- },
60
- {
61
- "candidate": "HP:0003319",
62
- "kind": "phenotype",
63
- "decision": "ACCEPT",
64
- "confidence": 0.982,
65
- "votes": [
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- {
67
- "by": "phenotype",
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- "vote": "NEUTRAL",
69
- "evidence": "no direct disease\u2192phenotype edge to HP:0003319; proximity only"
70
- },
71
- {
72
- "by": "world_model",
73
- "vote": "KEEP",
74
- "evidence": "Pillar-B onset hazard 0.98 \u2265 0.5"
75
- }
76
- ]
77
- },
78
- {
79
- "candidate": "HP:0005881",
80
- "kind": "phenotype",
81
- "decision": "ACCEPT",
82
- "confidence": 0.981,
83
- "votes": [
84
- {
85
- "by": "phenotype",
86
- "vote": "NEUTRAL",
87
- "evidence": "no direct disease\u2192phenotype edge to HP:0005881; proximity only"
88
- },
89
- {
90
- "by": "world_model",
91
- "vote": "KEEP",
92
- "evidence": "Pillar-B onset hazard 0.98 \u2265 0.5"
93
- }
94
- ]
95
- },
96
- {
97
- "candidate": "HP:0030311",
98
- "kind": "phenotype",
99
- "decision": "ACCEPT",
100
- "confidence": 0.981,
101
- "votes": [
102
- {
103
- "by": "phenotype",
104
- "vote": "NEUTRAL",
105
- "evidence": "no direct disease\u2192phenotype edge to HP:0030311; proximity only"
106
- },
107
- {
108
- "by": "world_model",
109
- "vote": "KEEP",
110
- "evidence": "Pillar-B onset hazard 0.98 \u2265 0.5"
111
- }
112
- ]
113
- },
114
- {
115
- "candidate": "FBN1",
116
- "kind": "gene",
117
- "decision": "ACCEPT",
118
- "confidence": 0.969,
119
- "votes": [
120
- {
121
- "by": "genetics",
122
- "vote": "KEEP",
123
- "evidence": "disease[132] \u2014associated_with\u2192 gene[FBN1] (direct edge)"
124
- },
125
- {
126
- "by": "world_model",
127
- "vote": "KEEP",
128
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
129
- }
130
- ]
131
- },
132
- {
133
- "candidate": "FBLN5",
134
- "kind": "gene",
135
- "decision": "ACCEPT",
136
- "confidence": 0.939,
137
- "votes": [
138
- {
139
- "by": "genetics",
140
- "vote": "NEUTRAL",
141
- "evidence": "no direct disease\u2192gene edge to FBLN5; embedding-proximity only"
142
- },
143
- {
144
- "by": "world_model",
145
- "vote": "KEEP",
146
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
147
- }
148
- ]
149
- },
150
- {
151
- "candidate": "CCBE1",
152
- "kind": "gene",
153
- "decision": "ACCEPT",
154
- "confidence": 0.937,
155
- "votes": [
156
- {
157
- "by": "genetics",
158
- "vote": "NEUTRAL",
159
- "evidence": "no direct disease\u2192gene edge to CCBE1; embedding-proximity only"
160
- },
161
- {
162
- "by": "world_model",
163
- "vote": "KEEP",
164
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
165
- }
166
- ]
167
- },
168
- {
169
- "candidate": "LTBP1",
170
- "kind": "gene",
171
- "decision": "ACCEPT",
172
- "confidence": 0.935,
173
- "votes": [
174
- {
175
- "by": "genetics",
176
- "vote": "NEUTRAL",
177
- "evidence": "no direct disease\u2192gene edge to LTBP1; embedding-proximity only"
178
- },
179
- {
180
- "by": "world_model",
181
- "vote": "KEEP",
182
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
183
- }
184
- ]
185
- },
186
- {
187
- "candidate": "COL3A1",
188
- "kind": "gene",
189
- "decision": "ACCEPT",
190
- "confidence": 0.935,
191
- "votes": [
192
- {
193
- "by": "genetics",
194
- "vote": "NEUTRAL",
195
- "evidence": "no direct disease\u2192gene edge to COL3A1; embedding-proximity only"
196
- },
197
- {
198
- "by": "world_model",
199
- "vote": "KEEP",
200
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
201
- }
202
- ]
203
- },
204
- {
205
- "candidate": "COL2A1",
206
- "kind": "gene",
207
- "decision": "ACCEPT",
208
- "confidence": 0.935,
209
- "votes": [
210
- {
211
- "by": "genetics",
212
- "vote": "NEUTRAL",
213
- "evidence": "no direct disease\u2192gene edge to COL2A1; embedding-proximity only"
214
- },
215
- {
216
- "by": "world_model",
217
- "vote": "KEEP",
218
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
219
- }
220
- ]
221
- }
222
- ]
223
- },
224
- "98896": {
225
- "name": "Duchenne muscular dystrophy",
226
- "disease": "ORPHA:98896",
227
- "verified_candidates": [
228
- {
229
- "candidate": "HP:0002396",
230
- "kind": "phenotype",
231
- "decision": "ACCEPT",
232
- "confidence": 0.976,
233
- "votes": [
234
- {
235
- "by": "phenotype",
236
- "vote": "NEUTRAL",
237
- "evidence": "no direct disease\u2192phenotype edge to HP:0002396; proximity only"
238
- },
239
- {
240
- "by": "world_model",
241
- "vote": "KEEP",
242
- "evidence": "Pillar-B onset hazard 0.98 \u2265 0.5"
243
- }
244
- ]
245
- },
246
- {
247
- "candidate": "HP:0008796",
248
- "kind": "phenotype",
249
- "decision": "ACCEPT",
250
- "confidence": 0.974,
251
- "votes": [
252
- {
253
- "by": "phenotype",
254
- "vote": "NEUTRAL",
255
- "evidence": "no direct disease\u2192phenotype edge to HP:0008796; proximity only"
256
- },
257
- {
258
- "by": "world_model",
259
- "vote": "KEEP",
260
- "evidence": "Pillar-B onset hazard 0.97 \u2265 0.5"
261
- }
262
- ]
263
- },
264
- {
265
- "candidate": "HP:0034394",
266
- "kind": "phenotype",
267
- "decision": "ACCEPT",
268
- "confidence": 0.973,
269
- "votes": [
270
- {
271
- "by": "phenotype",
272
- "vote": "NEUTRAL",
273
- "evidence": "no direct disease\u2192phenotype edge to HP:0034394; proximity only"
274
- },
275
- {
276
- "by": "world_model",
277
- "vote": "KEEP",
278
- "evidence": "Pillar-B onset hazard 0.97 \u2265 0.5"
279
- }
280
- ]
281
- },
282
- {
283
- "candidate": "HP:0008138",
284
- "kind": "phenotype",
285
- "decision": "ACCEPT",
286
- "confidence": 0.972,
287
- "votes": [
288
- {
289
- "by": "phenotype",
290
- "vote": "NEUTRAL",
291
- "evidence": "no direct disease\u2192phenotype edge to HP:0008138; proximity only"
292
- },
293
- {
294
- "by": "world_model",
295
- "vote": "KEEP",
296
- "evidence": "Pillar-B onset hazard 0.97 \u2265 0.5"
297
- }
298
- ]
299
- },
300
- {
301
- "candidate": "HP:0003093",
302
- "kind": "phenotype",
303
- "decision": "ACCEPT",
304
- "confidence": 0.972,
305
- "votes": [
306
- {
307
- "by": "phenotype",
308
- "vote": "NEUTRAL",
309
- "evidence": "no direct disease\u2192phenotype edge to HP:0003093; proximity only"
310
- },
311
- {
312
- "by": "world_model",
313
- "vote": "KEEP",
314
- "evidence": "Pillar-B onset hazard 0.97 \u2265 0.5"
315
- }
316
- ]
317
- },
318
- {
319
- "candidate": "HP:0009785",
320
- "kind": "phenotype",
321
- "decision": "ACCEPT",
322
- "confidence": 0.972,
323
- "votes": [
324
- {
325
- "by": "phenotype",
326
- "vote": "NEUTRAL",
327
- "evidence": "no direct disease\u2192phenotype edge to HP:0009785; proximity only"
328
- },
329
- {
330
- "by": "world_model",
331
- "vote": "KEEP",
332
- "evidence": "Pillar-B onset hazard 0.97 \u2265 0.5"
333
- }
334
- ]
335
- },
336
- {
337
- "candidate": "KLHL41",
338
- "kind": "gene",
339
- "decision": "ACCEPT",
340
- "confidence": 0.941,
341
- "votes": [
342
- {
343
- "by": "genetics",
344
- "vote": "NEUTRAL",
345
- "evidence": "no direct disease\u2192gene edge to KLHL41; embedding-proximity only"
346
- },
347
- {
348
- "by": "world_model",
349
- "vote": "KEEP",
350
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
351
- }
352
- ]
353
- },
354
- {
355
- "candidate": "KLHL40",
356
- "kind": "gene",
357
- "decision": "ACCEPT",
358
- "confidence": 0.94,
359
- "votes": [
360
- {
361
- "by": "genetics",
362
- "vote": "NEUTRAL",
363
- "evidence": "no direct disease\u2192gene edge to KLHL40; embedding-proximity only"
364
- },
365
- {
366
- "by": "world_model",
367
- "vote": "KEEP",
368
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
369
- }
370
- ]
371
- },
372
- {
373
- "candidate": "JPH2",
374
- "kind": "gene",
375
- "decision": "ACCEPT",
376
- "confidence": 0.938,
377
- "votes": [
378
- {
379
- "by": "genetics",
380
- "vote": "NEUTRAL",
381
- "evidence": "no direct disease\u2192gene edge to JPH2; embedding-proximity only"
382
- },
383
- {
384
- "by": "world_model",
385
- "vote": "KEEP",
386
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
387
- }
388
- ]
389
- },
390
- {
391
- "candidate": "JPH1",
392
- "kind": "gene",
393
- "decision": "ACCEPT",
394
- "confidence": 0.938,
395
- "votes": [
396
- {
397
- "by": "genetics",
398
- "vote": "NEUTRAL",
399
- "evidence": "no direct disease\u2192gene edge to JPH1; embedding-proximity only"
400
- },
401
- {
402
- "by": "world_model",
403
- "vote": "KEEP",
404
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
405
- }
406
- ]
407
- },
408
- {
409
- "candidate": "CASQ2",
410
- "kind": "gene",
411
- "decision": "ACCEPT",
412
- "confidence": 0.938,
413
- "votes": [
414
- {
415
- "by": "genetics",
416
- "vote": "NEUTRAL",
417
- "evidence": "no direct disease\u2192gene edge to CASQ2; embedding-proximity only"
418
- },
419
- {
420
- "by": "world_model",
421
- "vote": "KEEP",
422
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
423
- }
424
- ]
425
- },
426
- {
427
- "candidate": "RYR3",
428
- "kind": "gene",
429
- "decision": "ACCEPT",
430
- "confidence": 0.937,
431
- "votes": [
432
- {
433
- "by": "genetics",
434
- "vote": "NEUTRAL",
435
- "evidence": "no direct disease\u2192gene edge to RYR3; embedding-proximity only"
436
- },
437
- {
438
- "by": "world_model",
439
- "vote": "KEEP",
440
- "evidence": "Pillar-B onset hazard 0.94 \u2265 0.5"
441
- }
442
- ]
443
- }
444
- ]
445
- },
446
- "586": {
447
- "name": "Cystic fibrosis",
448
- "disease": "ORPHA:586",
449
- "verified_candidates": [
450
- {
451
- "candidate": "HP:0011472",
452
- "kind": "phenotype",
453
- "decision": "ACCEPT",
454
- "confidence": 0.964,
455
- "votes": [
456
- {
457
- "by": "phenotype",
458
- "vote": "NEUTRAL",
459
- "evidence": "no direct disease\u2192phenotype edge to HP:0011472; proximity only"
460
- },
461
- {
462
- "by": "world_model",
463
- "vote": "KEEP",
464
- "evidence": "Pillar-B onset hazard 0.96 \u2265 0.5"
465
- }
466
- ]
467
- },
468
- {
469
- "candidate": "HP:0003635",
470
- "kind": "phenotype",
471
- "decision": "ACCEPT",
472
- "confidence": 0.963,
473
- "votes": [
474
- {
475
- "by": "phenotype",
476
- "vote": "NEUTRAL",
477
- "evidence": "no direct disease\u2192phenotype edge to HP:0003635; proximity only"
478
- },
479
- {
480
- "by": "world_model",
481
- "vote": "KEEP",
482
- "evidence": "Pillar-B onset hazard 0.96 \u2265 0.5"
483
- }
484
- ]
485
- },
486
- {
487
- "candidate": "HP:6000826",
488
- "kind": "phenotype",
489
- "decision": "ACCEPT",
490
- "confidence": 0.963,
491
- "votes": [
492
- {
493
- "by": "phenotype",
494
- "vote": "NEUTRAL",
495
- "evidence": "no direct disease\u2192phenotype edge to HP:6000826; proximity only"
496
- },
497
- {
498
- "by": "world_model",
499
- "vote": "KEEP",
500
- "evidence": "Pillar-B onset hazard 0.96 \u2265 0.5"
501
- }
502
- ]
503
- },
504
- {
505
- "candidate": "HP:0002196",
506
- "kind": "phenotype",
507
- "decision": "ACCEPT",
508
- "confidence": 0.962,
509
- "votes": [
510
- {
511
- "by": "phenotype",
512
- "vote": "NEUTRAL",
513
- "evidence": "no direct disease\u2192phenotype edge to HP:0002196; proximity only"
514
- },
515
- {
516
- "by": "world_model",
517
- "vote": "KEEP",
518
- "evidence": "Pillar-B onset hazard 0.96 \u2265 0.5"
519
- }
520
- ]
521
- },
522
- {
523
- "candidate": "HP:0025130",
524
- "kind": "phenotype",
525
- "decision": "ACCEPT",
526
- "confidence": 0.962,
527
- "votes": [
528
- {
529
- "by": "phenotype",
530
- "vote": "NEUTRAL",
531
- "evidence": "no direct disease\u2192phenotype edge to HP:0025130; proximity only"
532
- },
533
- {
534
- "by": "world_model",
535
- "vote": "KEEP",
536
- "evidence": "Pillar-B onset hazard 0.96 \u2265 0.5"
537
- }
538
- ]
539
- },
540
- {
541
- "candidate": "HP:0031221",
542
- "kind": "phenotype",
543
- "decision": "ACCEPT",
544
- "confidence": 0.961,
545
- "votes": [
546
- {
547
- "by": "phenotype",
548
- "vote": "NEUTRAL",
549
- "evidence": "no direct disease\u2192phenotype edge to HP:0031221; proximity only"
550
- },
551
- {
552
- "by": "world_model",
553
- "vote": "KEEP",
554
- "evidence": "Pillar-B onset hazard 0.96 \u2265 0.5"
555
- }
556
- ]
557
- },
558
- {
559
- "candidate": "GCNT2",
560
- "kind": "gene",
561
- "decision": "ACCEPT",
562
- "confidence": 0.93,
563
- "votes": [
564
- {
565
- "by": "genetics",
566
- "vote": "NEUTRAL",
567
- "evidence": "no direct disease\u2192gene edge to GCNT2; embedding-proximity only"
568
- },
569
- {
570
- "by": "world_model",
571
- "vote": "KEEP",
572
- "evidence": "Pillar-B onset hazard 0.93 \u2265 0.5"
573
- }
574
- ]
575
- },
576
- {
577
- "candidate": "CCR5",
578
- "kind": "gene",
579
- "decision": "ACCEPT",
580
- "confidence": 0.928,
581
- "votes": [
582
- {
583
- "by": "genetics",
584
- "vote": "NEUTRAL",
585
- "evidence": "no direct disease\u2192gene edge to CCR5; embedding-proximity only"
586
- },
587
- {
588
- "by": "world_model",
589
- "vote": "KEEP",
590
- "evidence": "Pillar-B onset hazard 0.93 \u2265 0.5"
591
- }
592
- ]
593
- },
594
- {
595
- "candidate": "TMLHE",
596
- "kind": "gene",
597
- "decision": "ACCEPT",
598
- "confidence": 0.928,
599
- "votes": [
600
- {
601
- "by": "genetics",
602
- "vote": "NEUTRAL",
603
- "evidence": "no direct disease\u2192gene edge to TMLHE; embedding-proximity only"
604
- },
605
- {
606
- "by": "world_model",
607
- "vote": "KEEP",
608
- "evidence": "Pillar-B onset hazard 0.93 \u2265 0.5"
609
- }
610
- ]
611
- },
612
- {
613
- "candidate": "NHLRC2",
614
- "kind": "gene",
615
- "decision": "ACCEPT",
616
- "confidence": 0.928,
617
- "votes": [
618
- {
619
- "by": "genetics",
620
- "vote": "NEUTRAL",
621
- "evidence": "no direct disease\u2192gene edge to NHLRC2; embedding-proximity only"
622
- },
623
- {
624
- "by": "world_model",
625
- "vote": "KEEP",
626
- "evidence": "Pillar-B onset hazard 0.93 \u2265 0.5"
627
- }
628
- ]
629
- },
630
- {
631
- "candidate": "USP53",
632
- "kind": "gene",
633
- "decision": "ACCEPT",
634
- "confidence": 0.927,
635
- "votes": [
636
- {
637
- "by": "genetics",
638
- "vote": "NEUTRAL",
639
- "evidence": "no direct disease\u2192gene edge to USP53; embedding-proximity only"
640
- },
641
- {
642
- "by": "world_model",
643
- "vote": "KEEP",
644
- "evidence": "Pillar-B onset hazard 0.93 \u2265 0.5"
645
- }
646
- ]
647
- },
648
- {
649
- "candidate": "FUT1",
650
- "kind": "gene",
651
- "decision": "ACCEPT",
652
- "confidence": 0.927,
653
- "votes": [
654
- {
655
- "by": "genetics",
656
- "vote": "NEUTRAL",
657
- "evidence": "no direct disease\u2192gene edge to FUT1; embedding-proximity only"
658
- },
659
- {
660
- "by": "world_model",
661
- "vote": "KEEP",
662
- "evidence": "Pillar-B onset hazard 0.93 \u2265 0.5"
663
- }
664
- ]
665
- }
666
- ]
667
- }
668
  }
 
1
  {
2
+ "diseases": [
3
+ "ORPHA:558"
4
+ ],
5
+ "verified": [
6
+ {
7
+ "candidate": "FBN1",
8
+ "name": "FBN1",
9
+ "kind": "gene",
10
+ "decision": "ACCEPT",
11
+ "confidence": 0.993,
12
+ "logodds": 5.02,
13
+ "rationale": "genomic: pathogenic variant in FBN1 (score 0.97); genetics: ORPHA:558 \u2014associated_with:causal\u2192 FBN1 (direct)",
14
+ "adjudicator": "deterministic",
15
+ "panel": [
16
+ {
17
+ "by": "genetics",
18
+ "vote": "KEEP",
19
+ "strength": 1.0,
20
+ "evidence": "ORPHA:558 \u2014associated_with:causal\u2192 FBN1 (direct)"
21
+ },
22
+ {
23
+ "by": "network",
24
+ "vote": "KEEP",
25
+ "strength": 0.99,
26
+ "evidence": "RWR proximity in top 1% of the graph"
27
+ },
28
+ {
29
+ "by": "genomic",
30
+ "vote": "KEEP",
31
+ "strength": 0.97,
32
+ "evidence": "pathogenic variant in FBN1 (score 0.97)"
33
+ },
34
+ {
35
+ "by": "world_model",
36
+ "vote": "KEEP",
37
+ "strength": 0.82,
38
+ "evidence": "Pillar-B onset hazard 0.82 \u2265 0.5"
39
+ }
40
+ ]
41
+ },
42
+ {
43
+ "candidate": "HP:0004942",
44
+ "name": "ascending aortic aneurysm",
45
+ "kind": "phenotype",
46
+ "decision": "ACCEPT",
47
+ "confidence": 0.952,
48
+ "logodds": 2.983,
49
+ "rationale": "phenotype: ORPHA:558 \u2014has_phenotype\u2192 HP:0004942 (ascending aortic aneurysm) (direct); network: RWR proximity in top 4% of the graph",
50
+ "adjudicator": "deterministic",
51
+ "panel": [
52
+ {
53
+ "by": "phenotype",
54
+ "vote": "KEEP",
55
+ "strength": 1.0,
56
+ "evidence": "ORPHA:558 \u2014has_phenotype\u2192 HP:0004942 (ascending aortic aneurysm) (direct)"
57
+ },
58
+ {
59
+ "by": "network",
60
+ "vote": "KEEP",
61
+ "strength": 0.96,
62
+ "evidence": "RWR proximity in top 4% of the graph"
63
+ },
64
+ {
65
+ "by": "world_model",
66
+ "vote": "KEEP",
67
+ "strength": 0.61,
68
+ "evidence": "Pillar-B onset hazard 0.61 \u2265 0.5"
69
+ }
70
+ ]
71
+ },
72
+ {
73
+ "candidate": "HP:0001166",
74
+ "name": "arachnodactyly",
75
+ "kind": "phenotype",
76
+ "decision": "ACCEPT",
77
+ "confidence": 0.905,
78
+ "logodds": 2.251,
79
+ "rationale": "phenotype: ORPHA:558 \u2014has_phenotype\u2192 HP:0001166 (arachnodactyly) (direct); network: RWR proximity in top 4% of the graph",
80
+ "adjudicator": "deterministic",
81
+ "panel": [
82
+ {
83
+ "by": "phenotype",
84
+ "vote": "KEEP",
85
+ "strength": 1.0,
86
+ "evidence": "ORPHA:558 \u2014has_phenotype\u2192 HP:0001166 (arachnodactyly) (direct)"
87
+ },
88
+ {
89
+ "by": "network",
90
+ "vote": "KEEP",
91
+ "strength": 0.96,
92
+ "evidence": "RWR proximity in top 4% of the graph"
93
+ },
94
+ {
95
+ "by": "world_model",
96
+ "vote": "NEUTRAL",
97
+ "strength": 0.3,
98
+ "evidence": "no Pillar-B hazard provided"
99
+ }
100
+ ]
101
+ },
102
+ {
103
+ "candidate": "HP:0000545",
104
+ "name": "HP:0000545",
105
+ "kind": "phenotype",
106
+ "decision": "ACCEPT",
107
+ "confidence": 0.905,
108
+ "logodds": 2.251,
109
+ "rationale": "phenotype: ORPHA:558 \u2014has_phenotype\u2192 HP:0000545 (HP:0000545) (direct); network: RWR proximity in top 4% of the graph",
110
+ "adjudicator": "deterministic",
111
+ "panel": [
112
+ {
113
+ "by": "phenotype",
114
+ "vote": "KEEP",
115
+ "strength": 1.0,
116
+ "evidence": "ORPHA:558 \u2014has_phenotype\u2192 HP:0000545 (HP:0000545) (direct)"
117
+ },
118
+ {
119
+ "by": "network",
120
+ "vote": "KEEP",
121
+ "strength": 0.96,
122
+ "evidence": "RWR proximity in top 4% of the graph"
123
+ },
124
+ {
125
+ "by": "world_model",
126
+ "vote": "NEUTRAL",
127
+ "strength": 0.3,
128
+ "evidence": "no Pillar-B hazard provided"
129
+ }
130
+ ]
131
+ },
132
+ {
133
+ "candidate": "HP:0001763",
134
+ "name": "HP:0001763",
135
+ "kind": "phenotype",
136
+ "decision": "ACCEPT",
137
+ "confidence": 0.905,
138
+ "logodds": 2.251,
139
+ "rationale": "phenotype: ORPHA:558 \u2014has_phenotype\u2192 HP:0001763 (HP:0001763) (direct); network: RWR proximity in top 4% of the graph",
140
+ "adjudicator": "deterministic",
141
+ "panel": [
142
+ {
143
+ "by": "phenotype",
144
+ "vote": "KEEP",
145
+ "strength": 1.0,
146
+ "evidence": "ORPHA:558 \u2014has_phenotype\u2192 HP:0001763 (HP:0001763) (direct)"
147
+ },
148
+ {
149
+ "by": "network",
150
+ "vote": "KEEP",
151
+ "strength": 0.96,
152
+ "evidence": "RWR proximity in top 4% of the graph"
153
+ },
154
+ {
155
+ "by": "world_model",
156
+ "vote": "NEUTRAL",
157
+ "strength": 0.3,
158
+ "evidence": "no Pillar-B hazard provided"
159
+ }
160
+ ]
161
+ },
162
+ {
163
+ "candidate": "TGFBR2",
164
+ "name": "TGFBR2",
165
+ "kind": "gene",
166
+ "decision": "ACCEPT",
167
+ "confidence": 0.886,
168
+ "logodds": 2.048,
169
+ "rationale": "network: RWR proximity in top 3% of the graph; genetics: ORPHA:558 \u2014associated_with:modifier\u2192 TGFBR2 (direct)",
170
+ "adjudicator": "deterministic",
171
+ "panel": [
172
+ {
173
+ "by": "genetics",
174
+ "vote": "KEEP",
175
+ "strength": 0.7,
176
+ "evidence": "ORPHA:558 \u2014associated_with:modifier\u2192 TGFBR2 (direct)"
177
+ },
178
+ {
179
+ "by": "network",
180
+ "vote": "KEEP",
181
+ "strength": 0.97,
182
+ "evidence": "RWR proximity in top 3% of the graph"
183
+ },
184
+ {
185
+ "by": "genomic",
186
+ "vote": "NEUTRAL",
187
+ "strength": 0.3,
188
+ "evidence": "no variant called in TGFBR2"
189
+ },
190
+ {
191
+ "by": "world_model",
192
+ "vote": "NEUTRAL",
193
+ "strength": 0.5,
194
+ "evidence": "Pillar-B onset hazard 0.35"
195
+ }
196
+ ]
197
+ },
198
+ {
199
+ "candidate": "TGFBR1",
200
+ "name": "TGFBR1",
201
+ "kind": "gene",
202
+ "decision": "ACCEPT",
203
+ "confidence": 0.823,
204
+ "logodds": 1.537,
205
+ "rationale": "network: RWR proximity in top 10% of the graph; genetics: ORPHA:558 \u2192 FBN1 \u2014interacts_with\u2192 TGFBR1 (2-hop PPI)",
206
+ "adjudicator": "deterministic",
207
+ "panel": [
208
+ {
209
+ "by": "genetics",
210
+ "vote": "KEEP",
211
+ "strength": 0.55,
212
+ "evidence": "ORPHA:558 \u2192 FBN1 \u2014interacts_with\u2192 TGFBR1 (2-hop PPI)"
213
+ },
214
+ {
215
+ "by": "network",
216
+ "vote": "KEEP",
217
+ "strength": 0.9,
218
+ "evidence": "RWR proximity in top 10% of the graph"
219
+ },
220
+ {
221
+ "by": "genomic",
222
+ "vote": "NEUTRAL",
223
+ "strength": 0.3,
224
+ "evidence": "no variant called in TGFBR1"
225
+ },
226
+ {
227
+ "by": "world_model",
228
+ "vote": "NEUTRAL",
229
+ "strength": 0.5,
230
+ "evidence": "Pillar-B onset hazard 0.18"
231
+ }
232
+ ]
233
+ }
234
+ ],
235
+ "llm_adjudication": false
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
236
  }