Details of Disease

General Information of Disease (ID: DISX2RWY)

Disease Name Cone-rod dystrophy 2
Synonyms
cone-rod dystrophy; cone-rod retinal dystrophy; retinal cone-rod dystrophy; cone-rod retinal dystrophy-2; CRD2; cone-rod dystrophy caused by mutation in CRX; CORD2; cone-rod dystrophy type 2; RCRD2; retinal cone-rod dystrophy 2; CRX cone-rod dystrophy; cone-rod retinal dystrophy 2; cone-rod dystrophy 2
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DISCGPY8: Retinitis pigmentosa
DISX2RWY: Cone-rod dystrophy 2
Disease Identifiers
MONDO ID
MONDO_0007362
MESH ID
D000071700
UMLS CUI
C3489532
OMIM ID
120970
MedGen ID
483485

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 30 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADAMTS4 TTYG6BU Limited Biomarker [1]
NRG4 TTWAGKJ Limited Genetic Variation [2]
PROM1 TTXMZ81 Limited Biomarker [3]
ABCA4 TTLB52K Strong Genetic Variation [4]
ADAM9 TTTYQNS Strong Genetic Variation [5]
C9orf72 TTA4SHR Strong Genetic Variation [6]
CACNA1F TTJ0SO4 Strong GermlineCausalMutation [7]
CD6 TTMF6KC Strong Biomarker [8]
CEP250 TTPOA6U Strong Genetic Variation [9]
CNGA3 TTW0QOV Strong Genetic Variation [10]
GAP43 TTSGLN5 Strong Altered Expression [11]
GUCY2D TTWNFC2 Strong Genetic Variation [12]
HSD11B1 TTN7BL9 Strong Genetic Variation [13]
LYVE1 TTG8DNU Strong Altered Expression [14]
NTF3 TTZHKV9 Strong Biomarker [15]
RPGR TTHBDA9 Strong Genetic Variation [16]
SMN1 TT8QL6X Strong Biomarker [17]
TARDBP TT9RZ03 Strong Genetic Variation [18]
TST TT51OTS Strong Genetic Variation [19]
VCP TTHNLSB Strong Genetic Variation [20]
AMD1 TTBFROQ Definitive Biomarker [21]
CEP290 TT3XBOV Definitive Genetic Variation [22]
DPYSL2 TTZCW3T Definitive Biomarker [23]
GRIA1 TTVPQTF Definitive Biomarker [24]
GRIA2 TTWM461 Definitive Biomarker [25]
GRM2 TTXJ47W Definitive Biomarker [25]
KCNQ5 TTWVL5Q Definitive Altered Expression [26]
LINGO1 TTZYQ80 Definitive Biomarker [27]
NISCH TT789FN Definitive Biomarker [28]
RGMA TTURJV4 Definitive Biomarker [29]
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⏷ Show the Full List of 30 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A37 DTLBGTZ Definitive Biomarker [30]
SLC35A1 DTVZIRG Definitive Biomarker [31]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
NMNAT1 DE4D159 Strong Genetic Variation [32]
ASNS DEXISVQ Definitive Biomarker [33]
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This Disease Is Related to 71 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADAMTS3 OT2U6VF5 Limited Biomarker [1]
ALMS1 OTW66JKS Limited Genetic Variation [34]
CDHR1 OT1ORXCM Limited Genetic Variation [3]
PRPH2 OTNH2G5H Limited Genetic Variation [35]
RAB28 OTZX5BP6 Limited Biomarker [36]
RIMS1 OT10T7CK Limited Genetic Variation [37]
RPGRIP1 OTABESO9 Limited Biomarker [38]
TTLL5 OTUKOVEM Disputed GermlineCausalMutation [39]
GNB1 OTLL7L74 moderate Genetic Variation [40]
SP4 OTWB30IZ moderate Genetic Variation [40]
AIPL1 OT4VBD78 Strong Altered Expression [41]
AQP4 OTA9MYD5 Strong Altered Expression [42]
ATF6 OTAFHAVI Strong GermlineCausalMutation [43]
ATXN7 OTL3YF1H Strong Genetic Variation [44]
CACNA2D4 OTVYNX7N Strong GermlineCausalMutation [45]
CERKL OTG4YGBR Strong Genetic Variation [46]
CLTA OTLHOXMQ Strong Biomarker [47]
CNNM4 OTUXJRM1 Strong Genetic Variation [48]
CRB1 OTXYUNG0 Strong Genetic Variation [49]
DRAM2 OTBOCZH8 Strong GermlineCausalMutation [50]
EYS OT0NBPL5 Strong Genetic Variation [51]
GUCA1B OT85S0J3 Strong Genetic Variation [52]
GUCA2A OTUSF75G Strong Genetic Variation [53]
H6PD OTO7TNDD Strong Genetic Variation [13]
IFT81 OTB23T17 Strong Genetic Variation [54]
MT1B OTUA4FFH Strong Genetic Variation [55]
OPN1LW OTFNUZ7O Strong GermlineCausalMutation [56]
OPN1MW OTPJ7LX4 Strong GermlineCausalMutation [56]
POC1B OTDIMIRZ Strong Genetic Variation [57]
PRPH OT6VUH78 Strong Genetic Variation [58]
RDH12 OTELFRRJ Strong Biomarker [59]
SAR1B OT0JZOMY Strong Genetic Variation [60]
SEMA4A OT8901H3 Strong Genetic Variation [61]
SMN2 OT54RLO1 Strong Biomarker [17]
SNRPB OT3UJ4ZU Strong Biomarker [57]
ACTN3 OT9DZ7JQ Definitive Biomarker [62]
ADAMTS18 OTRMFI04 Definitive Biomarker [63]
AMIGO3 OTIX9POY Definitive Altered Expression [27]
ARL3 OT3OGOMX Definitive Genetic Variation [16]
CCL28 OTY6XNQ7 Definitive Biomarker [64]
CD200R1 OT65Q9M6 Definitive Biomarker [65]
CFAP410 OTJ94J99 Definitive Biomarker [66]
CNTN3 OTC1274J Definitive Biomarker [67]
CNTN6 OTXVGVOR Definitive Biomarker [68]
CRX OTH435SV Definitive Autosomal dominant [69]
DUSP19 OT0RRSG9 Definitive Biomarker [70]
EDA OTAKS5WS Definitive Biomarker [71]
ELOVL4 OT2M9W26 Definitive Genetic Variation [72]
GAL3ST1 OTSFFZRD Definitive Biomarker [31]
GIT1 OTHO92S5 Definitive Biomarker [73]
GNAT2 OTD9Y4UH Definitive Genetic Variation [74]
HES5 OTW7JEHV Definitive Altered Expression [75]
IGSF1 OT3XD6U2 Definitive Biomarker [27]
ITGAD OTNS69WO Definitive Genetic Variation [76]
KCNV2 OTLS8OU5 Definitive Genetic Variation [77]
KLF7 OTS3YVA0 Definitive Biomarker [31]
LCA5 OTQTCUWS Definitive Genetic Variation [78]
MAP9 OTZD5099 Definitive Genetic Variation [79]
MFSD8 OT455EIC Definitive Genetic Variation [80]
MICAL1 OTJEDVWA Definitive Altered Expression [81]
NCR3 OT20M764 Definitive Altered Expression [82]
NLN OTFRITPU Definitive Biomarker [83]
PCARE OTUSRSB5 Definitive Genetic Variation [84]
PTPRF OTH5KF2D Definitive Biomarker [85]
RANGAP1 OTZGD3LJ Definitive Biomarker [86]
RAX2 OT1HD6CF Definitive GermlineCausalMutation [87]
SAR1A OTSSRVGV Definitive Genetic Variation [60]
SNRPN OTQB1ID1 Definitive Biomarker [88]
SNX27 OTVPS7S0 Definitive Altered Expression [89]
SPATA7 OT78G2IH Definitive Biomarker [90]
STMN2 OT0FUHLH Definitive Biomarker [11]
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⏷ Show the Full List of 71 DOT(s)

References

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32 NMNAT1 variants cause cone and cone-rod dystrophy.Eur J Hum Genet. 2018 Mar;26(3):428-433. doi: 10.1038/s41431-017-0029-7. Epub 2017 Nov 28.
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39 Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014 May 1;94(5):760-9. doi: 10.1016/j.ajhg.2014.04.003.
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70 DUSP19 mediates spinal cord injury-induced apoptosis and inflammation in mouse primary microglia cells via the NF-kB signaling pathway.Neurol Res. 2020 Jan;42(1):31-38. doi: 10.1080/01616412.2019.1685068. Epub 2019 Dec 8.
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87 Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.JAMA Ophthalmol. 2015 Jun;133(6):653-61. doi: 10.1001/jamaophthalmol.2015.0357.
88 Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model.Hum Mol Genet. 2009 Oct 15;18(20):3906-13. doi: 10.1093/hmg/ddp333. Epub 2009 Jul 21.
89 Snx27 Deletion Promotes Recovery From Spinal Cord Injury by Neuroprotection and Reduces Macrophage/Microglia Proliferation.Front Neurol. 2018 Dec 13;9:1059. doi: 10.3389/fneur.2018.01059. eCollection 2018.
90 SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.Ophthalmic Genet. 2016 Sep;37(3):333-8. doi: 10.3109/13816810.2015.1130154. Epub 2016 Feb 8.