Table 2.

Drosophila Genes From the Clear-Hit List That are in Known Signaling Pathways and the Human Phenotypes Associated with These Disease Genes

Signaling pathway Disease OMIM# Fly gene Signaling component
BMP Fibrodysplasia ossificans progressiva112262(dpp)Ligand
Brachydactyly, type C113100(dpp)Ligand
Acromesomelic dysplasia, Hunter-Thompson type601146(dpp)Ligand
Hereditary hemorrhagic telangiectasia-2601284(sax)Specific type I receptor
Persistent Mullerian duct syndrome, type II600956(wit)Specific type II receptor
Colorectal cancer, familial nonpolyposis, type 6190182(put)General type II receptor
Polyposis, juvenile intestinal174900(med)Cytoplasmic transducer
Pancreatic cancer600993(med)Cytoplasmic transducer
Hedgehog Holoprosencephaly-3600725(hh)Ligand
Basal cell nevus syndrome109400(ptc)Co-receptor
Basal cell carcinoma, sporadic601309(ptc)Co-receptor
Greig cephalopolysyndactyly syndrome165240(ci)Transcription factor
Wnt Joubert syndrome213300(wg)Ligand
Simpson dysmorphia syndrome300037(dally)Proteoglycan (co-receptor?)
Colorectal cancer116806(arm)Cytoplasmic transducer
Notch Alagille syndrome601920(Ser)Ligand
Cerebral ateriopathy with subcortical infarcts and leukoencephalopathy600276(N)Receptor
RTK Obesity with impaired prohormone processing162150(Fur1)Protease: Ligand activation?
Achondroplasia; Craniosynostosis; Crouzon syndrome134934(htl)Receptor
Pfeiffer syndrome136350(htl)Receptor
Venous malformations, multiple cutaneous and mucosal600221(htl)Receptor
Apert syndrome; Beare-Stevenson cutis gurata176943(htl)Receptor
Mast cell leukemia; Mastocytosis; Piebaldism164920(htl)Receptor
Diabetes mellitus, insulin-resistant; Leprechaunism; Rabson-Mendenhall syndrome147670(InR)Receptor
Renal cell carcinoma164860Receptor kinase-like geneReceptor?
Predisposition to myeloid malignancy164770Putative growth factor  receptorReceptor?
Bladder cancer190020(Ras85D)Cytoplasmic transducer
Colorectal adenoma190070(Ras85D)Cytoplasmic transducer
Colorectal cancer164790(Ras85D)Cytoplasmic transducer
Colon cancer600679 Tyrosine phosphatase 99A Phosphatase
Ehlers-Danlos syndrome, type X135600 Tyrosine phosphatase 10D Phosphatase
Elliptocytosis-1130500(cora)Cytoskeletal scaffolding?
Serpentine Hypertension, salt-resistant108962 guanylate cyclase receptor Receptor
Night blindness, rhodopsin-related; Retinitis pigmentosa180380(ninaE)Receptor (Rhodopsin 1)
Colorblindness, deutan303800(ninaE)Receptor
Retinitis pigmentosa 4, included; rp4180380(ninaE)Receptor
Night blindness, congenital stationary, rhodopsin-related190900(ninaE)Receptor
Autonomic nervous system dysfunction126452Dopamine receptor-like  geneReceptor
Susceptibility to Schizophrenia?126451(DopR2)Receptor
Night blindness, congenital stationary, type 3180072cGMP phosphodiesterasePhosphodiesterase
Retinitis pigmentosa, autosomal recessive180071cGMP phosphodiesterasePhosphodiesterase
Susceptibility to essential hypertension139130(Gbeta13F)Cytoplasmic transducer
Bleeding diathesis due to GNAQ deficiency600998(Galpha49B)Cytoplasmic transducer
JAK/STAT SCID, autosomal recessive, T-negative/B-positive type600173(hop)JAK kinase
Toll/NFkB Leukemia/lymphoma, B-cell109560(cact)Cytoplasmic transducer  NFκI-like
Neuronal pathfinding Propedrin deficiency312060Semaphorin familyRepulsive ligand
Polycystic kidney disease, type I601313Slit-like geneRepulsive ligand
Antithrombin III deficiency107300(sema-5c)Ligand?
Transcortin deficiency122500(sema-5c)Ligand?
Plasmin inhibitor deficiency262850(sema-5c)Ligand?
Hydrocephalus due to aqueductal stenosis, MASA syndrome, spastic paraplegia308840(Nrg)Adhesion molecule  (Neuroglian)
Colorectal cancer120470(fra)Receptor
Integrin Glazmann thrombasthenia, type A273800(if)Integrin α-chain
Epidermolysis bullosa, junctional, with pyloric stenosis147556(mew)Integrin α-chain
Myopathy, congenital600536(mew)Integrin α-chain
Glycoprotein Ia deficiency192974(mew)Integrin α-chain