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Pediatric Disease Annotations & Medicines



   ciliopathy
  

Disease ID 1788
Disease ciliopathy
Definition
Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Obesity, SKELETAL DYSPLASIA and POLYDACTYLY are not examples of malformation that involve either the liver, eye or kidneys.
Synonym
ciliopathies
ciliopathies [disease/finding]
Orphanet
DOID
UMLS
C4277690
MeSH
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:14)
C0687120  |  nephronophthisis  |  2
C0010278  |  craniosynostosis  |  1
C1565489  |  renal insufficiency  |  1
C0020255  |  hydrocephalus  |  1
C0019569  |  hirschsprung's disease  |  1
C0456909  |  blindness  |  1
C0042075  |  urological disorders  |  1
C0027765  |  neurological disorders  |  1
C0032827  |  k deficiency  |  1
C0752166  |  bardet-biedl syndrome  |  1
C0431399  |  joubert syndrome  |  1
C0035304  |  retinal degeneration  |  1
C0022658  |  renal disease  |  1
C0027765  |  neurological disorder  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:46)
CEP290  |  80184  |  GHR
CCDC39  |  339829  |  UniProtKB-KW;GHR
RPGR  |  6103  |  GHR
MKS1  |  54903  |  GHR
ZMYND10  |  51364  |  UniProtKB-KW;GHR
HYDIN  |  54768  |  UniProtKB-KW;GHR
DYX1C1  |  161582  |  UniProtKB-KW;GHR
CCDC40  |  55036  |  UniProtKB-KW;GHR
SPAG1  |  6674  |  UniProtKB-KW;GHR
RSPH4A  |  345895  |  UniProtKB-KW;GHR
GAS8  |  2622  |  UniProtKB-KW
TMEM67  |  91147  |  GHR
CCDC114  |  93233  |  UniProtKB-KW;GHR
ARL13B  |  200894  |  GHR
OFD1  |  8481  |  GHR
DNAJB13  |  374407  |  UniProtKB-KW
DNAH11  |  8701  |  UniProtKB-KW;GHR
CCDC65  |  85478  |  GHR
NPHP1  |  4867  |  GHR
DNAH5  |  1767  |  UniProtKB-KW;GHR
TMEM216  |  51259  |  GHR
DNAL1  |  83544  |  GHR
DNAI2  |  64446  |  UniProtKB-KW;GHR
DNAI1  |  27019  |  UniProtKB-KW;GHR
ARMC4  |  55130  |  UniProtKB-KW;GHR
CCDC103  |  388389  |  UniProtKB-KW;GHR
RPGRIP1L  |  23322  |  GHR
LRRC6  |  23639  |  UniProtKB-KW;GHR
B9D2  |  80776  |  GHR
B9D1  |  27077  |  GHR
CENPF  |  1063  |  UniProtKB-KW
INPP5E  |  56623  |  GHR
DNAAF1  |  123872  |  UniProtKB-KW;GHR
DNAAF2  |  55172  |  UniProtKB-KW;GHR
DNAAF3  |  352909  |  UniProtKB-KW;GHR
CC2D2A  |  57545  |  GHR
CCDC151  |  115948  |  UniProtKB-KW
PIH1D3  |  139212  |  UniProtKB-KW
AHI1  |  54806  |  GHR
RSPH9  |  221421  |  UniProtKB-KW;GHR
RSPH1  |  89765  |  UniProtKB-KW;GHR
RSPH3  |  83861  |  UniProtKB-KW
C21orf59  |  56683  |  UniProtKB-KW;GHR
NME8  |  51314  |  UniProtKB-KW;GHR
DNAH8  |  1769  |  GHR
CCNO  |  10309  |  UniProtKB-KW
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:416)
1080  |  CFTR  |  DISEASES
79657  |  RPAP3  |  DISEASES
10942  |  PRSS21  |  DISEASES
3631  |  INPP4A  |  DISEASES
1951  |  CELSR3  |  DISEASES
9319  |  TRIP13  |  DISEASES
359  |  AQP2  |  DISEASES
51314  |  NME8  |  DISEASES
54930  |  HAUS4  |  DISEASES
27285  |  TEKT2  |  DISEASES
3956  |  LGALS1  |  DISEASES
25776  |  CBY1  |  DISEASES
81492  |  RSPH6A  |  DISEASES
1406  |  CRX  |  DISEASES
95681  |  CEP41  |  DISEASES
51056  |  LAP3  |  DISEASES
10566  |  AKAP3  |  DISEASES
345895  |  RSPH4A  |  DISEASES
7287  |  TULP1  |  DISEASES
9896  |  FIG4  |  DISEASES
55770  |  EXOC2  |  DISEASES
51364  |  ZMYND10  |  DISEASES
1894  |  ECT2  |  DISEASES
6787  |  NEK4  |  DISEASES
150465  |  TTL  |  DISEASES
1768  |  DNAH6  |  DISEASES
5311  |  PKD2  |  DISEASES
91754  |  NEK9  |  DISEASES
112752  |  IFT43  |  DISEASES
140735  |  DYNLL2  |  DISEASES
119587  |  CPXM2  |  DISEASES
27241  |  BBS9  |  DISEASES
27019  |  DNAI1  |  DISEASES
8655  |  DYNLL1  |  DISEASES
28981  |  IFT81  |  DISEASES
79809  |  TTC21B  |  DISEASES
80776  |  B9D2  |  DISEASES
583  |  BBS2  |  DISEASES
8195  |  MKKS  |  DISEASES
402  |  ARL2  |  DISEASES
1773  |  DNASE1  |  DISEASES
57576  |  KIF17  |  DISEASES
5880  |  RAC2  |  DISEASES
8554  |  PIAS1  |  DISEASES
23639  |  LRRC6  |  DISEASES
6674  |  SPAG1  |  DISEASES
90332  |  EXOC3L2  |  DISEASES
147965  |  FAM98C  |  DISEASES
83861  |  RSPH3  |  DISEASES
25814  |  ATXN10  |  DISEASES
10343  |  PKDREJ  |  DISEASES
60412  |  EXOC4  |  DISEASES
56033  |  BARX1  |  DISEASES
3337  |  DNAJB1  |  DISEASES
5989  |  RFX1  |  DISEASES
3000  |  GUCY2D  |  DISEASES
123811  |  FOPNL  |  DISEASES
84070  |  FAM186B  |  DISEASES
80210  |  ARMC9  |  DISEASES
55142  |  HAUS2  |  DISEASES
26160  |  IFT172  |  DISEASES
109  |  ADCY3  |  DISEASES
403  |  ARL3  |  DISEASES
54536  |  EXOC6  |  DISEASES
23314  |  SATB2  |  DISEASES
9786  |  KIAA0586  |  DISEASES
3074  |  HEXB  |  DISEASES
27077  |  B9D1  |  DISEASES
29954  |  POMT2  |  DISEASES
23247  |  KIAA0556  |  DISEASES
8766  |  RAB11A  |  DISEASES
10728  |  PTGES3  |  DISEASES
79959  |  CEP76  |  DISEASES
79848  |  CSPP1  |  DISEASES
79784  |  MYH14  |  DISEASES
5310  |  PKD1  |  DISEASES
6121  |  RPE65  |  DISEASES
84662  |  GLIS2  |  DISEASES
23090  |  ZNF423  |  DISEASES
1770  |  DNAH9  |  DISEASES
27130  |  INVS  |  DISEASES
55184  |  DZANK1  |  DISEASES
9620  |  CELSR1  |  DISEASES
57644  |  MYH7B  |  DISEASES
51588  |  PIAS4  |  DISEASES
8821  |  INPP4B  |  DISEASES
22858  |  ICK  |  DISEASES
50937  |  CDON  |  DISEASES
56751  |  BARHL1  |  DISEASES
56912  |  IFT46  |  DISEASES
7840  |  ALMS1  |  DISEASES
55212  |  BBS7  |  DISEASES
950  |  SCARB2  |  DISEASES
55722  |  CEP72  |  DISEASES
131890  |  GRK7  |  DISEASES
2121  |  EVC  |  DISEASES
1767  |  DNAH5  |  DISEASES
8382  |  NME5  |  DISEASES
51265  |  CDKL3  |  DISEASES
54806  |  AHI1  |  DISEASES
84060  |  RBM48  |  DISEASES
79109  |  MAPKAP1  |  DISEASES
26123  |  TCTN3  |  DISEASES
6585  |  SLIT1  |  DISEASES
24148  |  PRPF6  |  DISEASES
25809  |  TTLL1  |  DISEASES
145226  |  RDH12  |  DISEASES
122481  |  AK7  |  DISEASES
146057  |  TTBK2  |  DISEASES
585  |  BBS4  |  DISEASES
2622  |  GAS8  |  DISEASES
284086  |  NEK8  |  DISEASES
4628  |  MYH10  |  DISEASES
1952  |  CELSR2  |  DISEASES
23432  |  GPR161  |  DISEASES
10637  |  LEFTY1  |  DISEASES
51057  |  WDPCP  |  DISEASES
8817  |  FGF18  |  DISEASES
255626  |  HIST1H2BA  |  DISEASES
4851  |  NOTCH1  |  DISEASES
51524  |  TMEM138  |  DISEASES
6094  |  ROM1  |  DISEASES
22981  |  NINL  |  DISEASES
22897  |  CEP164  |  DISEASES
219854  |  TMEM218  |  DISEASES
57536  |  KIAA1328  |  DISEASES
1793  |  DOCK1  |  DISEASES
132320  |  SCLT1  |  DISEASES
10309  |  CCNO  |  DISEASES
170692  |  ADAMTS18  |  DISEASES
7545  |  ZIC1  |  DISEASES
10225  |  CD96  |  DISEASES
64422  |  ATG3  |  DISEASES
4956  |  ODF1  |  DISEASES
145483  |  FAM161B  |  DISEASES
157657  |  C8orf37  |  DISEASES
4838  |  NODAL  |  DISEASES
163786  |  SASS6  |  DISEASES
5147  |  PDE6D  |  DISEASES
26060  |  APPL1  |  DISEASES
168507  |  PKD1L1  |  DISEASES
56683  |  C21orf59  |  DISEASES
197131  |  UBR1  |  DISEASES
89765  |  RSPH1  |  DISEASES
7471  |  WNT1  |  DISEASES
197335  |  WDR90  |  DISEASES
165055  |  CCDC138  |  DISEASES
2019  |  EN1  |  DISEASES
129880  |  BBS5  |  DISEASES
27148  |  STK36  |  DISEASES
23380  |  SRGAP2  |  DISEASES
166336  |  PRICKLE2  |  DISEASES
54585  |  LZTFL1  |  DISEASES
7802  |  DNALI1  |  DISEASES
55764  |  IFT122  |  DISEASES
6010  |  RHO  |  DISEASES
25886  |  POC1A  |  DISEASES
84340  |  GFM2  |  DISEASES
221613  |  HIST1H2AA  |  DISEASES
6469  |  SHH  |  DISEASES
2020  |  EN2  |  DISEASES
55582  |  KIF27  |  DISEASES
203286  |  ANKS6  |  DISEASES
3636  |  INPPL1  |  DISEASES
401  |  PHOX2A  |  DISEASES
55172  |  DNAAF2  |  DISEASES
1014  |  CDH16  |  DISEASES
4218  |  RAB8A  |  DISEASES
956  |  ENTPD3  |  DISEASES
54986  |  ULK4  |  DISEASES
3175  |  ONECUT1  |  DISEASES
6795  |  AURKC  |  DISEASES
83657  |  DYNLRB2  |  DISEASES
153241  |  CEP120  |  DISEASES
57037  |  ANKMY2  |  DISEASES
5308  |  PITX2  |  DISEASES
10594  |  PRPF8  |  DISEASES
84203  |  TXNDC2  |  DISEASES
79867  |  TCTN2  |  DISEASES
115861  |  NXNL1  |  DISEASES
7690  |  ZNF131  |  DISEASES
7399  |  USH2A  |  DISEASES
55130  |  ARMC4  |  DISEASES
64446  |  DNAI2  |  DISEASES
127435  |  PODN  |  DISEASES
152206  |  CCDC13  |  DISEASES
5708  |  PSMD2  |  DISEASES
27115  |  PDE7B  |  DISEASES
253980  |  KCTD13  |  DISEASES
56171  |  DNAH7  |  DISEASES
9657  |  IQCB1  |  DISEASES
407  |  ARR3  |  DISEASES
9844  |  ELMO1  |  DISEASES
85478  |  CCDC65  |  DISEASES
57560  |  IFT80  |  DISEASES
4867  |  NPHP1  |  DISEASES
80199  |  FUZ  |  DISEASES
84314  |  TMEM107  |  DISEASES
57539  |  WDR35  |  DISEASES
54768  |  HYDIN  |  DISEASES
374768  |  SPEM1  |  DISEASES
283417  |  DPY19L2  |  DISEASES
8239  |  USP9X  |  DISEASES
55690  |  PACS1  |  DISEASES
10464  |  PIBF1  |  DISEASES
582  |  BBS1  |  DISEASES
8607  |  RUVBL1  |  DISEASES
93233  |  CCDC114  |  DISEASES
166379  |  BBS12  |  DISEASES
124590  |  USH1G  |  DISEASES
2253  |  FGF8  |  DISEASES
161582  |  DYX1C1  |  DISEASES
282809  |  POC1B  |  DISEASES
26005  |  C2CD3  |  DISEASES
8100  |  IFT88  |  DISEASES
2302  |  FOXJ1  |  DISEASES
26121  |  PRPF31  |  DISEASES
255758  |  TCTEX1D2  |  DISEASES
60485  |  SAV1  |  DISEASES
51286  |  CEND1  |  DISEASES
5121  |  PCP4  |  DISEASES
6753  |  SSTR3  |  DISEASES
8701  |  DNAH11  |  DISEASES
79582  |  SPAG16  |  DISEASES
1769  |  DNAH8  |  DISEASES
5587  |  PRKD1  |  DISEASES
11247  |  NXPH4  |  DISEASES
9001  |  HAP1  |  DISEASES
10013  |  HDAC6  |  DISEASES
23265  |  EXOC7  |  DISEASES
6011  |  GRK1  |  DISEASES
200728  |  TMEM17  |  DISEASES
23336  |  SYNM  |  DISEASES
9094  |  UNC119  |  DISEASES
9227  |  LRAT  |  DISEASES
139212  |  PIH1D3  |  DISEASES
200162  |  SPAG17  |  DISEASES
135138  |  PACRG  |  DISEASES
8558  |  CDK10  |  DISEASES
27031  |  NPHP3  |  DISEASES
117178  |  SSX2IP  |  DISEASES
83893  |  SPATA16  |  DISEASES
132884  |  EVC2  |  DISEASES
79722  |  ANKRD55  |  DISEASES
2305  |  FOXM1  |  DISEASES
8481  |  OFD1  |  DISEASES
374407  |  DNAJB13  |  DISEASES
1499  |  CTNNB1  |  DISEASES
755  |  C21orf2  |  DISEASES
84747  |  UNC119B  |  DISEASES
3614  |  IMPDH1  |  DISEASES
6338  |  SCNN1B  |  DISEASES
54820  |  NDE1  |  DISEASES
9863  |  MAGI2  |  DISEASES
204  |  AK2  |  DISEASES
954  |  ENTPD2  |  DISEASES
23386  |  NUDCD3  |  DISEASES
5265  |  SERPINA1  |  DISEASES
10438  |  C1D  |  DISEASES
79925  |  SPEF2  |  DISEASES
115948  |  CCDC151  |  DISEASES
219844  |  HYLS1  |  DISEASES
30849  |  PIK3R4  |  DISEASES
23299  |  BICD2  |  DISEASES
63979  |  FIGNL1  |  DISEASES
63929  |  XPNPEP3  |  DISEASES
83658  |  DYNLRB1  |  DISEASES
50807  |  ASAP1  |  DISEASES
90410  |  IFT20  |  DISEASES
79874  |  RABEP2  |  DISEASES
79770  |  TXNDC15  |  DISEASES
8852  |  AKAP4  |  DISEASES
5116  |  PCNT  |  DISEASES
3635  |  INPP5D  |  DISEASES
127343  |  DMBX1  |  DISEASES
60509  |  AGBL5  |  DISEASES
85444  |  LRRCC1  |  DISEASES
149371  |  EXOC8  |  DISEASES
23085  |  ERC1  |  DISEASES
22920  |  KIFAP3  |  DISEASES
2736  |  GLI2  |  DISEASES
800  |  CALD1  |  DISEASES
9851  |  KIAA0753  |  DISEASES
10806  |  SDCCAG8  |  DISEASES
6991  |  TCTE3  |  DISEASES
7044  |  LEFTY2  |  DISEASES
1063  |  CENPF  |  DISEASES
254428  |  SLC41A1  |  DISEASES
9928  |  KIF14  |  DISEASES
23418  |  CRB1  |  DISEASES
6045  |  RNF2  |  DISEASES
9857  |  CEP350  |  DISEASES
29922  |  NME7  |  DISEASES
128344  |  PIFO  |  DISEASES
3749  |  KCNC4  |  DISEASES
167691  |  LCA5  |  DISEASES
25911  |  DPCD  |  DISEASES
1069  |  CETN2  |  DISEASES
5586  |  PKN2  |  DISEASES
114327  |  EFHC1  |  DISEASES
84455  |  EFCAB7  |  DISEASES
4952  |  OCRL  |  DISEASES
5314  |  PKHD1  |  DISEASES
51361  |  HOOK1  |  DISEASES
7268  |  TTC4  |  DISEASES
55165  |  CEP55  |  DISEASES
377841  |  ENTPD8  |  DISEASES
56623  |  INPP5E  |  DISEASES
84871  |  AGBL4  |  DISEASES
221421  |  RSPH9  |  DISEASES
89891  |  WDR34  |  DISEASES
3633  |  INPP5B  |  DISEASES
51098  |  IFT52  |  DISEASES
27095  |  TRAPPC3  |  DISEASES
79140  |  CCDC28B  |  DISEASES
286204  |  CRB2  |  DISEASES
1104  |  RCC1  |  DISEASES
22954  |  TRIM32  |  DISEASES
51230  |  PHF20  |  DISEASES
164395  |  TTLL9  |  DISEASES
22852  |  ANKRD26  |  DISEASES
2017  |  CTTN  |  DISEASES
84131  |  CEP78  |  DISEASES
9576  |  SPAG6  |  DISEASES
57704  |  GBA2  |  DISEASES
261734  |  NPHP4  |  DISEASES
9731  |  CEP104  |  DISEASES
51473  |  DCDC2  |  DISEASES
6103  |  RPGR  |  DISEASES
3980  |  LIG3  |  DISEASES
123872  |  DNAAF1  |  DISEASES
6990  |  DYNLT3  |  DISEASES
11127  |  KIF3A  |  DISEASES
1855  |  DVL1  |  DISEASES
23322  |  RPGRIP1L  |  DISEASES
80173  |  IFT74  |  DISEASES
116840  |  CNTROB  |  DISEASES
54875  |  CNTLN  |  DISEASES
123016  |  TTC8  |  DISEASES
1183  |  CLCN4  |  DISEASES
9738  |  CCP110  |  DISEASES
5991  |  RFX3  |  DISEASES
51199  |  NIN  |  DISEASES
114899  |  C1QTNF3  |  DISEASES
9901  |  SRGAP3  |  DISEASES
23012  |  STK38L  |  DISEASES
284217  |  LAMA1  |  DISEASES
352909  |  DNAAF3  |  DISEASES
54549  |  SDK2  |  DISEASES
54903  |  MKS1  |  DISEASES
79738  |  BBS10  |  DISEASES
284076  |  TTLL6  |  DISEASES
55812  |  SPATA7  |  DISEASES
200894  |  ARL13B  |  DISEASES
374654  |  KIF7  |  DISEASES
3619  |  INCENP  |  DISEASES
11158  |  RABL2B  |  DISEASES
174  |  AFP  |  DISEASES
8814  |  CDKL1  |  DISEASES
2737  |  GLI3  |  DISEASES
7289  |  TULP3  |  DISEASES
7106  |  TSPAN4  |  DISEASES
283232  |  TMEM80  |  DISEASES
55036  |  CCDC40  |  DISEASES
79600  |  TCTN1  |  DISEASES
64221  |  ROBO3  |  DISEASES
79659  |  DYNC2H1  |  DISEASES
79583  |  TMEM231  |  DISEASES
57728  |  WDR19  |  DISEASES
57096  |  RPGRIP1  |  DISEASES
55112  |  WDR60  |  DISEASES
92002  |  FAM58A  |  DISEASES
27124  |  INPP5J  |  DISEASES
284403  |  WDR62  |  DISEASES
84140  |  FAM161A  |  DISEASES
150737  |  TTC30B  |  DISEASES
65062  |  TMEM237  |  DISEASES
100190949  |  C5orf52  |  DISEASES
84984  |  CEP19  |  DISEASES
388389  |  CCDC103  |  DISEASES
65250  |  C5orf42  |  DISEASES
10640  |  EXOC5  |  DISEASES
91147  |  TMEM67  |  DISEASES
23005  |  MAPKBP1  |  DISEASES
11020  |  IFT27  |  DISEASES
57545  |  CC2D2A  |  DISEASES
392509  |  ARL13A  |  DISEASES
3702  |  ITK  |  DISEASES
25981  |  DNAH1  |  DISEASES
6522  |  SLC4A2  |  DISEASES
339829  |  CCDC39  |  DISEASES
9742  |  IFT140  |  DISEASES
387707  |  CC2D2B  |  DISEASES
8999  |  CDKL2  |  DISEASES
51763  |  INPP5K  |  DISEASES
9053  |  MAP7  |  DISEASES
3831  |  KLC1  |  DISEASES
5270  |  SERPINE2  |  DISEASES
51686  |  OAZ3  |  DISEASES
2801  |  GOLGA2  |  DISEASES
79989  |  TTC26  |  DISEASES
4750  |  NEK1  |  DISEASES
9793  |  CKAP5  |  DISEASES
92482  |  BBIP1  |  DISEASES
23310  |  NCAPD3  |  DISEASES
727897  |  MUC5B  |  DISEASES
23354  |  HAUS5  |  DISEASES
51259  |  TMEM216  |  DISEASES
117177  |  RAB3IP  |  DISEASES
80184  |  CEP290  |  DISEASES
5726  |  TAS2R38  |  DISEASES
83544  |  DNAL1  |  DISEASES
2108  |  ETFA  |  DISEASES
23059  |  CLUAP1  |  DISEASES
10856  |  RUVBL2  |  DISEASES
100131814  |  LINC00271  |  DISEASES
Locus(Waiting for update.)
Disease ID 1788
Disease ciliopathy
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:10)
Disease ID 1788
Disease ciliopathy
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)