Ciliopathy

Disease Term Disease ID Gene Symbol Classification References Source
CILIOPATHIES
C4277690
TOGARAM1 Unknown — Disgenet
TRAF3IP1 Unknown — Disgenet
TULP3 Unknown — Disgenet
TXNDC15 Unknown — Disgenet
WDPCP Unknown — Disgenet
WDR19 Unknown — Disgenet
ZNF423 Unknown — Disgenet
CILIOPATHY
MONDO:0005308EFO_0003900
CC2D2A Causal
18387594 18513680 18950740 19574260 19777577 21725307 21816947 24947469
ClinGen HPO
RPGRIP1L Causal
17558407 17558409 29650680
ClinGen ClinVar
TBC1D32 Causal
20159594 24285566 27002738 31130284 32060556 32573025
GWAS catalog
TCTN3 Causal
22883145 28800946 34096782
CTD ClinGen
TMEM231 Causal
22179047 23012439 23349226 25869670
ClinGen GWAS catalog
ADAMTS9 Unknown
20096780 30609407 33290818 34750010
CTD ClinGen
ARL2BP Unknown
23849777 27790702 29718757 31425546 36507858 38649918
ClinGen Disgenet
ARL6 Unknown
15258860 19236846 19956407 20207729 20603001 22139371 27486776 31736247 31939736 32361989 36550847
ClinGen GWAS catalog
B9D1 Unknown
20150540 21493627 21763481 22179047 24886560 26092869 27894351 32622957 34338422
ClinGen GWAS catalog
B9D2 Unknown
17127412 18287022 19208769 21422230 21763481 26092869 31411728
CTD ClinGen
CBY1 Unknown — GenCC
CCP110 Unknown — GenCC
CEP104 Unknown
23970417 26477546 31412255 34196201 35359234 7488117 9628581
CTD ClinGen
CEP120 Unknown
27208211 25361962
GWAS catalog
CFAP418 Unknown
22177090 25802487 26854863 26865426 27008867 29440555 36233334
ClinGen Disgenet
DCDC2 Unknown — ClinGen GenCC
DLG5 Unknown
32631816
Disgenet
DNAJB11 Unknown
33129895 34177435
ClinGen Disgenet
IFT172 Unknown
21552265 24140113 25492405 33393400 34567078 37471416
CTD ClinGen
IFT27 Unknown
24488770 25443296 25446516 28964737 29588463 29704304 30761183 34888642 37239474
ClinGen Disgenet
IFT43 Unknown — GenCC
IFT74 Unknown
27486776 33531668 33748949 34539760 37315079 37555648
ClinGen GWAS catalog
IFT81 Unknown
26275418
Orphanet
IQCB1 Unknown
15723066 18076122 25552655 25984213 27328943 28736169 36084637
ClinGen HPO
KATNIP Unknown
26714646 27245168 30982090 31197031 32164589 36580738
CTD ClinGen
KIF11 Unknown — GenCC
KIF3B Unknown
32386558
GWAS catalog
LRRC45 Unknown — GenCC
MC2R Unknown
40465716
GWAS catalog
MC5R Unknown
40465716
GWAS catalog
MKS1 Unknown
17185389 17397051 18327255 19776033 23454480 24608809 24886560 26490104 33193692 34359301
ClinGen Disgenet
PIBF1 Unknown
23110211 26167768 29695797 30858804 34241634 34592808
ClinGen GWAS catalog
POC1B Unknown — GenCC
SCLT1 Unknown
24285566 28005958 28486600 30237576 30425282 32253632
Disgenet
SDCCAG8 Unknown
20835237 22626039 26968886 31534065 32432520
Disgenet
SUFU Unknown
10559945 10564661 16459298 21289193 25760946 28965847
ClinGen Orphanet
TMEM107 Unknown
26123494 26518474 26595381
GWAS catalog
TMEM138 Unknown
22282472 23351400 26489029 27081510 27434533 27894351 28102635 28289185 29620724 34354814 34821546 35394880
ClinGen Orphanet
TMEM216 Unknown
20036350 20512146 22282472 23351400 32163404 32687549 36533556 36788019
ClinGen GWAS catalog
TMEM218 Unknown
35137054 33791682
GenCC
TMEM67 Unknown
16415887 17160906 18327255 19058225 19211713 19515853 21725307 22121117
ClinGen ClinVar
TOGARAM1 Unknown
32747439 32453716
CTD
TOPORS Unknown
17924349 18509552 21159800 28453362 34132027
GWAS catalog