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Leber congenital amaurosis

Disease Term Disease ID Gene Symbol References

Leber Congenital Amaurosis C0339527 , 65
ABCA4 9781034, 10090887
CRX 9931337, 9537410, 26872967, 25685757
GRM6 30718709
GUCY2D 25685757, 30718709
IMPDH1 16384941, 25685757
KCNJ13 21763485, 25685757
PCYT1A 28272537
PDE6A
RP2
RPE65 19339306, 17032058, 11326284, 25752820, 15557452, 22509104, 9501220, 19339744, 27375040, 25495949, 26626312, 26147992, 15765048, 28712537, 11264131, 16096063, 9808841, 9326927, 25685757
TULP1 25685757, 17962469
USH2A 30718709
RGS9 30718709
LRAT 25685757, 17011878, 19339306
IQCB1 20881296, 15723066, 21220633, 21901789
IFT140 26216056
NR2E3
MERTK
CLUAP1
CRB1 25685757, 30718709, 11389483
ZFYVE26
AIPL1 30718709, 25685757, 10615133
GIGYF2
CNGB3 30718709, 10888875
AHI1
SPATA7 19268277, 25685757
RPGRIP1 11283794, 11528500, 30718709, 25685757
NMNAT1 22842231, 22842229, 22842227, 22842230, 24830548, 25685757, 26018082
CEP290 16682970, 17345604, 25685757, 30718709
USP45 30573563
CDHR1 30718709
RDH12 25685757, 15322982
SLC38A8
LCA5 23946133, 25412400, 25685757, 17546029
RD3 17186464, 25685757
GDF6 25685757, 23307924
LEBER CONGENITAL AMAUROSIS 7 C3151192
CRX 9931337, 10887186, 20513135, 21602930, 9792858
Amaurosis congenita of Leber, type 1 C2931258
GUCY2D 11035546, 9888789, 10951519, 26626312, 17724218, 23035049, 8944027, 10636733, 25477517, 30319355, 20050595, 21602930, 26253563, 11328726, 15123990, 20683928, 16505055, 12365911, 17964524, 27475985
TULP1 29178942
PROM1
CRB1
RPGRIP1
LEBER CONGENITAL AMAUROSIS 11 C1840284
IMPDH1 16384941
LEBER CONGENITAL AMAUROSIS 16 C3280062
KCNJ13 21763485
GIGYF2
LEBER CONGENITAL AMAUROSIS 9 (disorder) C1837873
RPE65 9326927
LRAT
NMNAT1 22842227, 22842229, 23040504, 24830548, 22842230, 27032803, 24940029, 26103963, 26018082, 28369829, 22842231, 24625443, 12734549
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) C1859844
RPE65 26626312, 16828753, 19854499, 17297704, 11462243, 18682808, 29681726, 16205573, 21153841, 18539930, 9801879, 26906952, 25752820, 15557452, 20604683, 10766140, 19431183, 9326941, 19117922, 15024725, 17724218, 16754667, 19959640, 9501220, 20079931, 28181551, 21911650, 16150724, 28418496, 14611946, 16096063, 10090910, 11095629, 26024124, 21151602, 26427455, 25495949, 14962443, 9326927, 20683928
LEBER CONGENITAL AMAUROSIS 15 C3151206
TULP1 15024725, 17962469
Leber Congenital Amaurosis 14 C2750063
LRAT 11381255, 18055821, 17011878
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS C4693498
TUBB4B 29198720
LEBER CONGENITAL AMAUROSIS 8 C3151202
CRB1 24512366, 19401883, 12567265, 20591486, 21602930, 22065545, 23462753, 10508521, 18055821, 17128490, 16936081, 21484995, 28512305, 15691574, 28819299, 20108431, 11389483, 27113771, 15024725, 18682808, 11231775, 24265693, 22863181, 12843338, 12700176, 20079931, 16205573, 19140180, 12573663, 20956273, 23379534, 18055816, 23847139, 24715753, 16543197, 17438615, 15459956, 17724218, 25133751, 30576320, 26147992, 23449718
LEBER CONGENITAL AMAUROSIS 13 C2675186
ZFYVE26 16269441, 24474277, 23847139, 26047050, 22065924, 17389517
RDH12 15322982, 19140180, 26355662, 15258582, 16269441, 23847139, 26047050, 26497376, 19956407, 26306921, 22065924, 26124963, 24474277, 25526675, 31505163, 17389517, 17964524, 29186038
Leber Congenital Amaurosis 4 C1858386
AIPL1 10615133, 27268253, 22412862, 28973376, 23737531, 15347646, 15249368, 25799540, 10873396, 20702822, 17724218, 25148430, 21153841, 12374762, 21474771
LEBER CONGENITAL AMAUROSIS 6 (disorder) C1854260
MKS1
RPGRIP1 23105016, 12920076, 18682808, 24981858, 17306875, 11528500, 17554762, 30576320, 26667666, 20079931
LEBER CONGENITAL AMAUROSIS 3 (disorder) C1858677
SPATA7
LEBER CONGENITAL AMAUROSIS 10 (disorder) C1857821
CEP290 16909394, 17564974, 30055837, 18327255, 17345604, 19764032, 20690115
LEBER CONGENITAL AMAUROSIS 5 C1858301
LCA5 21606596, 28418496, 17546029, 19503738, 18000884, 25356970, 18334959, 23946133
LEBER CONGENITAL AMAUROSIS 12 (disorder) C1857743
RD3
LEBER CONGENITAL AMAUROSIS 17 C3715164
GDF6 23307924

 

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