Skip to main content

Table 1 PhenoDigm performs best for urogenital diseases for mouse and cardiac malformation for fish out of 31 disease categories.

From: The influence of disease categories on gene candidate predictions from model organism phenotypes

disease category* diseases(mouse)† AUC(mouse)‡ diseases(fish)† AUC(fish)‡
abdominal surgical 104 0.856 (0.336) 67 0.716 (0.033)
Allergic 5 - 0 -
Bone 368 0.870 (0.002) 185 0.650 (0.110)
cardiac 128 0.857 (0.138) 58 0.675 (0.049)
cardiac malformations 34 0.822 (0.221) 23 0.835 (1E-4)
circulatory system 63 0.825 (0.239) 31 0.658 (0.417)
developmental anomalies in embryogenesis 943 0.852 (0.177) 475 0.673 (1E-4)
endocrine 307 0.874 (0.029) 128 0.629 (0.382)
eye 582 0.864 (0.034) 269 0.646 (0.147)
gastroenterological 74 0.842 (0.391) 36 0.739 (0.031)
haematological 151 0.816 (0.151) 53 0.603 (0.215)
hepatic 41 0.774 (0.011) 8 -
immunological 134 0.843 (0.391) 36 0.540 (0.014)
inborn errors of metabolism 384 0.789 (5E-9) 91 0.646 (0.103)
infectious 3 - 2 -
infertility 41 0.817 (0.154) 18 0.635 (0.496)
neurological 777 0.787 (2E-11) 328 0.630 (0.486)
odontological 44 0.899 (0.078) 18 0.693 (0.161)
otorhinolaryngological 150 0.890 (0.043) 74 0.731 (0.015)
renal 277 0.846 (0.479) 130 0.676 (0.048)
respiratory 65 0.808 (0.126) 35 0.594 (0.135)
skin 418 0.852 (0.161) 154 0.636 (0.442)
surgical maxillo facial 89 0.836 (0.367) 56 0.723 (5E-4)
surgical thoracic 33 0.816 (0.176) 12 0.641 (0.364)
systematic and rheumatological 68 0.832 (0.297) 14 0.592 (0.311)
teratologic 1 - 1 -
tumors 239 0.835 (0.388) 130 0.677 (0.044)
urogenital 62 0.901 (0.050) 31 0.608 (0.207)
all diseases 3728 0.845 1558 0.630
  1. * disease categories according to Orphanet [19]; † number of diseases falling into this category with phenotype data for the orthologue(s) of the associated gene; ‡ AUC, measured on disease-gene associations from OMIM's MorbidMap and Orphanet curation. Value in brackets shows the p-value of obtained this result compared to those obtained from randomly selecting the same number of diseases. Significant results (p value < 0.05) are shown in bold. Note that one disease may fall into different categories due to multiple systems affected by disease.
\