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Original file line number | Diff line number | Diff line change |
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rank id name score | ||
1 227810 Fanconi-Bickel syndrome 0.3851177990436554 | ||
2 611881 Glycogen storage disease XII 0.3723735809326172 | ||
3 603902 Thalassemia-beta, dominant inclusion-body 0.3528570234775543 | ||
4 232500 Glycogen storage disease IV 0.3311641216278076 | ||
5 613027 Glycogen storage disease IXc 0.3222183883190155 | ||
6 232700 Glycogen storage disease VI 0.32113826274871826 | ||
7 615895 Polyglucosan body myopathy 1 with or without immunodeficiency 0.3190052807331085 | ||
8 610539 Gaucher disease, atypical 0.3134368658065796 | ||
9 230800 Gaucher disease, type I 0.2948063015937805 | ||
10 257220 Niemann-pick disease, type C1 0.2887139916419983 | ||
11 231000 Gaucher disease, type III 0.28795626759529114 | ||
12 232200 Glycogen storage disease Ia 0.2799232304096222 | ||
13 230900 Gaucher disease, type II 0.2669340968132019 | ||
14 608013 Gaucher disease, perinatal lethal 0.2648431360721588 | ||
15 261750 Glycogen storage disease type IXb 0.25858327746391296 | ||
16 232220 Glycogen storage disease Ib 0.25592923164367676 | ||
17 607625 Niemann-pick disease, type C2 0.2328203171491623 | ||
18 232800 Glycogen storage disease VII 0.21963520348072052 | ||
19 232240 Glycogen storage disease Ic 0.21480496227741241 | ||
20 306000 Glycogen storage disease, type IXa1 0.2114570587873459 | ||
21 231005 Gaucher disease, type IIIC 0.19200804829597473 | ||
22 240600 Glycogen storage disease 0, liver 0.18373343348503113 | ||
23 232300 Glycogen storage disease II 0.17807894945144653 | ||
24 232400 Glycogen storage disease III 0.17743338644504547 | ||
25 612933 Glycogen storage disease XI 0.16075573861598969 | ||
26 612932 Glycogen storage disease XIII 0.12607280910015106 | ||
27 232600 Glycogen storage disease V 0.11939386278390884 | ||
28 263570 Polyglucosan body neuropathy, adult form 0.11525966227054596 | ||
29 261670 Phosphoglycerate mutase, muscle, deficiency of 0.10096176713705063 | ||
30 611556 Glycogen storage disease 0, muscle 0.10010755807161331 | ||
31 613507 Glycogen storage disease XV 0.08989541977643967 | ||
32 300653 Phosphoglycerate kinase 1 deficiency 0.08972006291151047 | ||
33 616199 Polyglucosan body myopathy 2 0.08133861422538757 | ||
34 614128 Lactate dehydrogenase B deficiency 0.07455503195524216 | ||
35 613985 BETA-THALASSEMIA 0.07443328201770782 | ||
36 300257 Danon disease 0.06328766793012619 | ||
37 300559 Muscle glycogenosis, X-linked 0.06328236311674118 |
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analysis: | ||
data_dir: null | ||
proband: null | ||
mother: null | ||
father: null | ||
proband_gender: null | ||
proband_phen: null | ||
mother_phen: null | ||
father_phen: null | ||
hpo_ids: | ||
- HP:0000007 | ||
- HP:0001433 | ||
- HP:0001903 | ||
- HP:0001541 | ||
- HP:0010972 | ||
- HP:0005561 | ||
- HP:0001396 | ||
- HP:0001410 | ||
- HP:0002910 | ||
- HP:0001399 | ||
- HP:0000938 | ||
- HP:0001642 | ||
- HP:0200114 | ||
- HP:0003073 | ||
- HP:0003233 | ||
- HP:0001873 | ||
- HP:0002151 | ||
- HP:0031964 | ||
- HP:0031956 | ||
- HP:0002366 | ||
- HP:0006568 | ||
- HP:0004333 | ||
- HP:0001531 | ||
library: null | ||
method: null | ||
setup: | ||
dv_version: null | ||
glnexus_version: null | ||
tiddit_version: null | ||
dv_model: null | ||
max_mem: null | ||
ref_dir: null | ||
ref_fasta: null | ||
snpEff_dir: null | ||
snpEff_ver: null | ||
exomiser_dir: null | ||
exomiser_data_ver: null | ||
dbNSFP_file: null | ||
dbSNP_file: null | ||
ClinVar_file: null | ||
chr_rename: null |
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