Table 1.

Classification of 714 Clear-Hit Drosophila Genes According to Human Disease Phenotypes

Disorder No. of genes
Neurological 74
 Neuromuscular20
 Neuropsychiatric9
 CNS/Developmental8
 CNS/Ataxia9
 Mental retardation6
 Other22
Endocrine 50
 Diabetes10
 Other40
Deafness 13
 Syndromic7
 Nonsyndromic6
Cardiovascular 26
 Cardiomyopathy10
 Conduction defects4
 Hypertension7
 Atherosclerosis3
 Vascular malformations2
Ophthalmologic 43
Anterior segment (13)
  Aniridia1
  Rieger syndrome1
  Mesenchymal dysgenisis2
  Iridogoniodysgenisis2
  Corneal dystrophy2
  Cataract3
  Glaucoma2
Retina (30)
  Retinal dystrophy1
  Choroiderimea1
  Color vision defects4
  Cone dystrophy2
  Cone rod dystrophy1
  Night blindness8
  Leber congenital amaurosis2
  Macular dystrophy4
  Retinitis pigmentosa7
Pulmonary 4
Gastrointestinal 13
Renal 13
Immunological 33
 Complement mediated11
 Other22
Hematologic 42
 Erythrocyte, general29
 Porphyrias7
 Platelets6
Coagulation abnormalities 28
Malignancies 79
 Brain3
 Breast4
 Colon11
 Other gastrointestinal3
 Genitourinary5
 Gynocologic3
 Endocrine3
 Dermatologic3
 Xeroderma pigmentosa6
 Other/sarcomas9
 Hematologic malignancies29
Skeletal development 26
 Craniosynostosis5
 Skeletal dysplasia13
 Other8
Soft tissue 2
Connective tissue 18
Dermatologic 25
Metabolic/mitochondrial 123
Pharmacologic 12
Peroxisomal 9
Storage 37
 Glycogen storage11
 Lipid storage13
 Mucopolysaccaridosis10
 Other3
Pleitropic developmental 35
 Growth, immune, cancer7
 Apoptosis1
 Other27
Complex other 9
Total 714

[i] Totals for categories of disease are in bold, subcategory totals are in parenthesis, and individual categories are in plain text.