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 progressiva | 112262 | (dpp) | Ligand |
| Brachydactyly, type C | 113100 | (dpp) | Ligand | |
| Acromesomelic dysplasia, Hunter-Thompson type | 601146 | (dpp) | Ligand | |
| Hereditary hemorrhagic telangiectasia-2 | 601284 | (sax) | Specific type I receptor | |
| Persistent Mullerian duct syndrome, type II | 600956 | (wit) | Specific type II receptor | |
| Colorectal cancer, familial nonpolyposis, type 6 | 190182 | (put) | General type II receptor | |
| Polyposis, juvenile intestinal | 174900 | (med) | Cytoplasmic transducer | |
| Pancreatic cancer | 600993 | (med) | Cytoplasmic transducer | |
| Hedgehog | Holoprosencephaly-3 | 600725 | (hh) | Ligand |
| Basal cell nevus syndrome | 109400 | (ptc) | Co-receptor | |
| Basal cell carcinoma, sporadic | 601309 | (ptc) | Co-receptor | |
| Greig cephalopolysyndactyly syndrome | 165240 | (ci) | Transcription factor | |
| Wnt | Joubert syndrome | 213300 | (wg) | Ligand |
| Simpson dysmorphia syndrome | 300037 | (dally) | Proteoglycan (co-receptor?) | |
| Colorectal cancer | 116806 | (arm) | Cytoplasmic transducer | |
| Notch | Alagille syndrome | 601920 | (Ser) | Ligand |
| Cerebral ateriopathy with subcortical infarcts and leukoencephalopathy | 600276 | (N) | Receptor | |
| RTK | Obesity with impaired prohormone processing | 162150 | (Fur1) | Protease: Ligand activation? |
| Achondroplasia; Craniosynostosis; Crouzon syndrome | 134934 | (htl) | Receptor | |
| Pfeiffer syndrome | 136350 | (htl) | Receptor | |
| Venous malformations, multiple cutaneous and mucosal | 600221 | (htl) | Receptor | |
| Apert syndrome; Beare-Stevenson cutis gurata | 176943 | (htl) | Receptor | |
| Mast cell leukemia; Mastocytosis; Piebaldism | 164920 | (htl) | Receptor | |
| Diabetes mellitus, insulin-resistant; Leprechaunism; Rabson-Mendenhall syndrome | 147670 | (InR) | Receptor | |
| Renal cell carcinoma | 164860 | Receptor kinase-like gene | Receptor? | |
| Predisposition to myeloid malignancy | 164770 | Putative growth factor receptor | Receptor? | |
| Bladder cancer | 190020 | (Ras85D) | Cytoplasmic transducer | |
| Colorectal adenoma | 190070 | (Ras85D) | Cytoplasmic transducer | |
| Colorectal cancer | 164790 | (Ras85D) | Cytoplasmic transducer | |
| Colon cancer | 600679 | Tyrosine phosphatase 99A | Phosphatase | |
| Ehlers-Danlos syndrome, type X | 135600 | Tyrosine phosphatase 10D | Phosphatase | |
| Elliptocytosis-1 | 130500 | (cora) | Cytoskeletal scaffolding? | |
| Serpentine | Hypertension, salt-resistant | 108962 | guanylate cyclase receptor | Receptor |
| Night blindness, rhodopsin-related; Retinitis pigmentosa | 180380 | (ninaE) | Receptor (Rhodopsin 1) | |
| Colorblindness, deutan | 303800 | (ninaE) | Receptor | |
| Retinitis pigmentosa 4, included; rp4 | 180380 | (ninaE) | Receptor | |
| Night blindness, congenital stationary, rhodopsin-related | 190900 | (ninaE) | Receptor | |
| Autonomic nervous system dysfunction | 126452 | Dopamine receptor-like gene | Receptor | |
| Susceptibility to Schizophrenia? | 126451 | (DopR2) | Receptor | |
| Night blindness, congenital stationary, type 3 | 180072 | cGMP phosphodiesterase | Phosphodiesterase | |
| Retinitis pigmentosa, autosomal recessive | 180071 | cGMP phosphodiesterase | Phosphodiesterase | |
| Susceptibility to essential hypertension | 139130 | (Gbeta13F) | Cytoplasmic transducer | |
| Bleeding diathesis due to GNAQ deficiency | 600998 | (Galpha49B) | Cytoplasmic transducer | |
| JAK/STAT | SCID, autosomal recessive, T-negative/B-positive type | 600173 | (hop) | JAK kinase |
| Toll/NFkB | Leukemia/lymphoma, B-cell | 109560 | (cact) | Cytoplasmic transducer NFκI-like |
| Neuronal pathfinding | Propedrin deficiency | 312060 | Semaphorin family | Repulsive ligand |
| Polycystic kidney disease, type I | 601313 | Slit-like gene | Repulsive ligand | |
| Antithrombin III deficiency | 107300 | (sema-5c) | Ligand? | |
| Transcortin deficiency | 122500 | (sema-5c) | Ligand? | |
| Plasmin inhibitor deficiency | 262850 | (sema-5c) | Ligand? | |
| Hydrocephalus due to aqueductal stenosis, MASA syndrome, spastic paraplegia | 308840 | (Nrg) | Adhesion molecule (Neuroglian) | |
| Colorectal cancer | 120470 | (fra) | Receptor | |
| Integrin | Glazmann thrombasthenia, type A | 273800 | (if) | Integrin α-chain |
| Epidermolysis bullosa, junctional, with pyloric stenosis | 147556 | (mew) | Integrin α-chain | |
| Myopathy, congenital | 600536 | (mew) | Integrin α-chain | |
| Glycoprotein Ia deficiency | 192974 | (mew) | Integrin α-chain |