Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AHI1 gene AHI1 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000135541 ENSG00000135541 HGNC:21575 ARL13B gene ARL13B Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 8.8 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000113966 ENSG00000113966 HGNC:13210 BBS1 gene BBS1 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS9 gene BBS9 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000122507 ENSG00000122507 HGNC:30000 C5orf42 gene C5orf42 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000197603 ENSG00000197603 HGNC:25801 CC2D2A gene CC2D2A Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC28B gene CCDC28B Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 8.8 True ENSG00000160050 ENSG00000160050 HGNC:28163 CEP41 gene CEP41 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000106477 ENSG00000106477 HGNC:12370 COL4A5 gene COL4A5 Expert Review Red;Other Cystic kidney disease Renal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) cystic kidney disease MONDO:0002473 31922066;38680391 False 1 100;0;0 8.8 False ENSG00000188153 ENSG00000188153 HGNC:2207 GLIS2 gene GLIS2 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000126603 ENSG00000126603 HGNC:29450 INPP5E gene INPP5E Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000148384 ENSG00000148384 HGNC:21474 IQCB1 gene IQCB1 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000173226 ENSG00000173226 HGNC:28949 KIF7 gene KIF7 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 8.8 True ENSG00000166813 ENSG00000166813 HGNC:30497 MKS1 gene MKS1 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000011143 ENSG00000011143 HGNC:7121 MUC1 gene MUC1 Expert;Expert Review Red;Radboud University Medical Center, Nijmegen Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Medullary cystic kidney disease 1, 174000 False 1 100;0;0 8.8 True ENSG00000185499 ENSG00000185499 HGNC:7508 RPGRIP1L gene RPGRIP1L Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000103494 ENSG00000103494 HGNC:29168 SDCCAG8 gene SDCCAG8 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000054282 ENSG00000054282 HGNC:10671 TCTN1 gene TCTN1 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 8.8 True ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN3 gene TCTN3 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM138 gene TMEM138 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 8.8 True ENSG00000155755 ENSG00000155755 HGNC:14432 TRIM32 gene TRIM32 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 8.8 True ENSG00000119401 ENSG00000119401 HGNC:16380 TTC8 gene TTC8 Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 8.8 True ENSG00000165533 ENSG00000165533 HGNC:20087 WDPCP gene WDPCP Expert;Expert Review Red Cystic kidney disease Renal Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 8.8 True ENSG00000143951 ENSG00000143951 HGNC:28027