|
Drosophila tubule as a model for human genetic disease |
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| Gene |
Affymetrix signal |
Enrichment |
Blast probability |
OMIM reference |
Human disease |
Available fly stocks |
|
|
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| CG10226 |
290 ± 25 |
28.3 |
1.00E-184 |
171050 |
Colchicine resistance |
|
| CG7402 |
99 ± 4 |
26.9 |
2.00E-40 |
253000 |
Mucopolysaccharidosis IVA |
|
| Ir |
1,302 ± 112 |
14.2 |
1.00E-76 |
600359 |
Bartter syndrome, antenatal, 601678 |
|
| ry |
655 ± 44 |
13.0 |
1.00E-184 |
607633 |
Xanthinuria, type I, 278300 |
|
| Ptx1 |
183 ± 8 |
12.7 |
6.00E-38 |
602669 |
Anterior segment mesenchymal dysgenesis and cataract, 107250 |
|
| Fmo-1 |
131 ± 11 |
12.0 |
9.00E-27 |
136132 |
[Fish-odor syndrome], 602079 |
|
| CG4484 |
504 ± 50 |
12.0 |
1.00E-49 |
606202 |
Oculocutaneous albinism, type IV, 606574 |
|
| DS00004.14 |
759 ± 54 |
10.6 |
1.00E-123 |
603470 |
Citrullinemia, 215700 |
|
| CG9455 |
355 ± 40 |
9.0 |
1.00E-42 |
107400 |
Emphysema; emphysema-cirrhosis, hemorrhagic diathesis due to |
|
| CG5582 |
825 ± 49 |
8.5 |
1.00E-69 |
607042 |
Ceroid-lipofuscinosis, neuronal-3, juvenile, 204200 |
|
| Cyp4d2 |
1,008 ± 70 |
8.3 |
1.00E-27 |
107910 |
Gynecomastia, familial, due to increased aromatase activity |
|
| CG7433 |
1,364 ± 50 |
7.4 |
1.00E-153 |
137150 |
GABA-transaminase deficiency |
|
| CG1140 |
894 ± 26 |
7.3 |
1.00E-176 |
245050 |
Ketoacidosis due to SCOT deficiency |
|
| CG9547 |
860 ± 34 |
7.0 |
1.00E-164 |
231670 |
Glutaricaciduria, type I |
|
| PhKgamma |
2,665 ± 152 |
6.9 |
1.00E-111 |
172471 |
Glycogenosis, hepatic, autosomal |
|
| CG4623 |
382 ± 37 |
6.8 |
4.00E-28 |
606598 |
Charcot-Marie-Tooth disease, mixed axonal and demyelinating |
l(3)j7B3 |
| CG12370 |
203 ± 17 |
6.7 |
5.00E-40 |
138033 |
||
| CG15556 |
221 ± 12 |
6.4 |
6.00E-12 |
602851 |
Convulsions, familial febrile, 4, 604352 |
|
| KCNQ |
101 ± 0 |
6.4 |
1.00E-108 |
602235 |
Epilepsy, benign, neonatal, type 1, 121200; myokymia with neonatal |
|
| CG17119 |
852 ± 28 |
5.7 |
6.00E-74 |
606272 |
Cystinosis, atypical nephropathic; cystinosis, late-onset juvenile |
|
| CG7408 |
168 ± 6 |
5.6 |
3.00E-27 |
300180 |
Chondrodysplasia punctata, X-linked recessive, 302950 |
|
| Spat |
724 ± 39 |
5.1 |
2.00E-88 |
604285 |
Hyperoxaluria, primary, type 1, 259900 |
EP(x)1365 |
| CG8743 |
1,001 ± 44 |
4.9 |
1.00E-100 |
605248 |
Mucolipidosis IV, 252650 |
|
| CG14593 |
59 ± 13 |
4.9 |
2.00E-33 |
131244 |
ABCD syndrome, 600501; Hirschsprung disease-2, 600155 |
|
| CG1673 |
911 ± 142 |
4.8 |
1.00E-100 |
113530 |
Hypervalinemia or hyperleucine-isoleucinemia (?) |
|
| Ndae1 |
531 ± 34 |
4.7 |
1.00E-184 |
603345 |
Renal tubular acidosis, proximal, with ocular abnormalities, 604278 |
|
| CG7834 |
3441 ± 106 |
4.3 |
8.00E-80 |
130410 |
Glutaricaciduria, type IIB, 231680 |
EP(2)2553, l(2)k00405 |
| Pvr |
294 ± 26 |
4.2 |
6.00E-69 |
164770 |
Myeloid malignancy, predisposition to |
|
| CG12030 |
887 ± 51 |
4.1 |
1.00E-124 |
606953 |
Galactose epimerase deficiency, 230350 |
|
| Mdr49 |
239 ± 25 |
4.0 |
1.00E-184 |
171060 |
Cholestasis, familial intrahepatic, of pregnancy, 147480 |
l(2)k05224 |
| CG4685 |
563 ± 19 |
4.0 |
1.00E-129 |
271980 |
Succinic semialdehyde dehydrogenase deficiency |
EP(2)2545, l(2)k08713 |
| CG12338 |
774 ± 16 |
3.9 |
4.00E-40 |
124050 |
||
| CG12582 |
183 ± 14 |
3.8 |
1.00E-142 |
248510 |
Mannosidosis, beta- |
l(2)k10108 |
| Reg-3 |
463 ± 24 |
3.8 |
1.00E-184 |
274270 |
Thymine-uraciluria |
|
| Cyp12c1 |
73 ± 5 |
3.8 |
2.00E-34 |
124080 |
Aldosterone to renin ratio raised; hypoaldosteronism, congenital, |
|
| Fur1 |
724 ± 29 |
3.7 |
1.00E-163 |
162150 |
Obesity with impaired prohormone processing, 600955 |
|
| Cyp9c1 |
258 ± 14 |
3.7 |
7.00E-53 |
274180 |
Thromboxane synthase deficiency |
l(3)05545 |
| Drip |
318 ± 16 |
3.6 |
1.00E-37 |
154050 |
Cataract, polymorphic and lamellar, 604219 |
|
| CG8654 |
274 ± 29 |
3.6 |
2.00E-62 |
607096 |
Hypouricemia, renal, 220150 |
|
| Cyp9f2 |
1,700 ± 60 |
3.6 |
1.00E-69 |
124010 |
CYP3A4 promoter polymorphism; CYP3A4-V |
|
| ERR |
239 ± 21 |
3.5 |
5.00E-29 |
313700 |
Androgen insensitivity, 300068; breast cancer, male |
EP(3)3340 |
| CG3603 |
94 ± 7 |
3.4 |
5.00E-20 |
222745 |
DECR deficiency (2) (?) |
|
| CG9232 |
877 ± 20 |
3.4 |
1.00E-118 |
606999 |
Galactosemia, 230400 |
|
| CG8417 |
502 ± 31 |
3.2 |
3.00E-71 |
154550 |
Carbohydrate-deficient glycoprotein syndrome, type Ib, 602579 |
EP(2)0844, EP(2)2192, EP(2)2358, l(2)05428, l(2)k06503 |
| CG4663 |
439 ± 14 |
3.2 |
2.00E-29 |
601789 |
Adrenoleukodystrophy, neonatal, 202370; Zellweger syndrome, 214100 |
|
| Cat |
4,316 ± 88 |
3.2 |
1.00E-184 |
115500 |
Acatalasemia |
|
| Prominin-like |
308 ± 24 |
3.0 |
1.00E-20 |
604365 |
Retinal degeneration, autosomal recessive, prominin-related |
EP(2)0740 |
|
Genes that are abundant (Affymetrix signal > 50) and enriched (> 3 times) in tubule, and which are also closely similar (Blast probablility < 10-20) to genes mutated in human genetic diseases, as described in the Homophila database [99]. OMIM reference refers to entries in the Online Mendelian Inheritance in Man database [100]. | ||||||
Wang et al. Genome Biology 2004 5:R69 doi:10.1186/gb-2004-5-9-r69 |
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