Table 1

Disease-associated genes with potential roles in Hh and Wnt signaling. Disease-associated genes that were confirmed by siRNA retesting (either by two nonredundant siRNA pools or by three or more individual siRNAs; see fig. S2) were grouped on the basis of disease type. NC, no change; +, gain in response (normalized response >1.2; see table S4). Multiple names for a single gene are separated by a slash.

Pathological
condition
GeneFunctionAssociated diseaseRNAi
specificity test
Wnt
pathway
response
MalformationG1i2TranscriptionHoloprosencephaly2x poolsNC
Stk22B/Tssk2KinaseDiGeorge syndrome candidate gene
(velocardiofacial syndrome)
2x poolsNC
DgkqKinaseWolf-Hirschhom syndrome candidate
gene (midline fusion defect)
3+
Gpc1ReceptorAlbright hereditary osteodystrophy (AHO)–like
syndrome candidate gene (obesity,
brachydactyly, and ectopic ossifications)
3+
Degenerative diseaseRlbp1SignalingRetinitis pigmentosa (retinal degeneration)4NC
AaasNuclear poreTriple A syndrome (adrenal insufficiency,
alacrima, achalasia)
2x poolsNC
Ift57/HippiSignalingBardet-Biedl type 3 syndrome candidate
gene (renal failure)
3+
CancerSmoSignalingGorlin’s syndrome (basal cell carcinoma,
medulloblastoma, rhabdomyosarcoma)
4NC
Prkar1aKinaseCamey complex, type 1 (myxomas of the
heart and skin, endocrine tumors, lentiginosis)
4+
Stk11/Lkb1KinasePeutz-Jeghers syndrome (pancreatic cancer,
melanoma, testicular cancer, endocrine
tumors; lentiginosis)
3+