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Cone-rod dystrophy

Disease Term Disease ID Gene Symbol References

Cone-Rod Dystrophy 2 C3489532
ABCA4 26992781, 23776498, 10958761
CFAP410 23105016
CACNA1F 16505158, 26992781
CNGA3 25052312
CRX 26682157, 9390563, 9792858, 10887186, 26992781, 9427255
OPN1MW 20579627
GUCA1A 23428504, 26992781
GUCY2D 26992781, 20517349
OPN1LW 20579627
PRPH2 9279751, 23563732
RPGR 11857109, 23776498
ADAM9 19409519
PROM1 26153215, 19718270
UNC119 26992781, 11006213
RAB28 23746546
ATF6 28479318
RIMS1 12659814
TTLL5 24791901
AIPL1 10873396
RPGRIP1 26992781, 12920076
SEMA4A 16199541
NMNAT1 28369829
PITPNM3 17377520
RAX2 25789692, 15028672
CDHR1 20805371
CACNA2D4 17033974
DRAM2 25983245
CFAP418 22177090
POC1B 25018096
CONE-ROD DYSTROPHY 9 C1423873
ADAM9 25091951
CONE-ROD DYSTROPHY 18 C3809299
RAB28 25356532, 27930654, 28388261, 23746546
Cone-Rod Dystrophy 7 C1863634
RIMS1 12659814, 28677725
CONE-ROD DYSTROPHY 19 C4014501
TTLL5 28173158, 24791901
Cone-Rod Dystrophy 13 C2750720
RPGRIP1 23105016, 26667666, 12920076, 20079931, 10958648, 11528500
CONE-ROD DYSTROPHY 10 C1846529
SEMA4A 16199541
Cone-Rod Dystrophy 5 C1832976
PITPNM3 17377520
Cone-Rod Dystrophy 11 C1835865
RAX2 15028672
CONE-ROD DYSTROPHY 15 C3150912
CDHR1 20805371, 26350383
CONE-ROD DYSTROPHY 16 C3281045
CFAP418 27008867, 22177090
CFAP418-AS1
CONE-ROD DYSTROPHY 20 C4014856
POC1B 29377742, 25018096, 24945461, 25044745
Cone rod dystrophy 1872
RPGR
PRPH2
CFAP410
PITPNM3
OPN1MW
CRX
NMNAT1
CFAP418
CDHR1
ABCA4
RIMS1
RPGRIP1
CACNA1F
CNGA3
AIPL1
GUCA1A
GUCY2D
OPN1LW
RAX2
SEMA4A
PROM1
CACNA2D4
ADAM9
UNC119
RAB28
POC1B
DRAM2
TTLL5
ATF6
CONE-ROD DYSTROPHY 3 (disorder) C1858806
ABCA4 9503029, 16103129, 24444108, 28181551, 22328824, 24265693, 23591405, 22427542, 11385708, 10958761, 10958763, 11017087, 19217903, 23755871, 20696155, 19074458, 9973280, 22264887, 25082885, 25097241, 9781034, 18285826, 11527935, 23695285, 24713488, 9466990, 30576320, 10413692, 26593885, 10711710
Cone-Rod Dystrophies C4085590
ABCA4 30718709
CACNA1F
CNGA1 30718709
CNGA3
CRX
GUCA1A
GUCY2D
PCYT1A
PDE6C
PDE6H
PRPH2 22183351, 14557183, 15779916
RHO 30718709
RPGR
ATXN7
USH2A 30718709
ALMS1
NUMB 28041643
ADAM9
PROM1
UNC119
RAB28
NR2E3
SLC19A2
WASF3 28041643
RIMS1
TTLL5
AIPL1 25148430
CNNM4
LZTFL1
CNGB3 30718709
NGLY1
CABP4 30718709
RPGRIP1
SEMA4A
PANK2
CEP290 30718709
TLCD3B 28041643
CEP78
FAM161A
RAX2
CDHR1
CACNA2D4
RDH12
NIPAL1 30718709
CFAP418
KCNV2
POC1B
CERKL 30718709
CONE-ROD DYSTROPHY, X-LINKED, 3 C1845407
CACNA1F 26350204
CONE-ROD DYSTROPHY, X-LINKED, 1 C1844776
RPGR 9855162
CONE-ROD DYSTROPHY 12 (disorder) C2675210
PROM1 18654668, 19718270, 10205271
Cone rod dystrophy amelogenesis imperfecta C2931074
CNNM4 24194943, 19200525

 

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