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 ADCY10 gene ADCY10 Expert;Expert Review Red Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID: 24907563 (review) False 1 50;0;50 4.13 True ENSG00000143199 ENSG00000143199 HGNC:21285 AGK gene AGK Expert Review Red;Radboud University Medical Center, Nijmegen Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders Hyperoxaluria, primary, type 1, 259900 False 1 0;0;100 4.13 True ENSG00000006530 ENSG00000006530 HGNC:21869 AP2S1 gene AP2S1 Expert Review Red;Radboud University Medical Center, Nijmegen Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalciuric hypercalcemia, familial, type III, 600740;Familial hypocalciuric hypercalcemia type III False 1 0;0;100 4.13 True ENSG00000042753 ENSG00000042753 HGNC:565 CLCNKA gene CLCNKA Expert Review Red;Radboud University Medical Center, Nijmegen Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders Other Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 15044642;18310267;32488762 False 1 0;0;100 4.13 True ENSG00000186510 ENSG00000186510 HGNC:2026 FGF23 gene FGF23 Expert list Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 100;0;0 4.13 False ENSG00000118972 ENSG00000118972 HGNC:3680 GNA11 gene GNA11 Radboud University Medical Center, Nijmegen Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders Hypocalciuric hypercalcemia, type II, 145981 False 1 0;0;100 4.13 False ENSG00000088256 ENSG00000088256 HGNC:4379 SLC26A1 gene SLC26A1 Expert list;Expert Review Red Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrolithiasis, calcium oxalate, MIM#167030 27210743;20160351;30383413;27125215;24250268;36719378 False 1 33;0;67 4.13 False ENSG00000145217 ENSG00000145217 HGNC:10993 SLC26A6 gene SLC26A6 Literature Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Enteric hyperoxaluria and nephrolithiasis 35115415 False 1 0;0;0 4.13 False ENSG00000225697 ENSG00000225697 HGNC:14472 SLC36A2 gene SLC36A2 Expert Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 4.13 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC6A19 gene SLC6A19 Expert Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 4.13 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A20 gene SLC6A20 Expert Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 4.13 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLC9A3 gene SLC9A3 Expert Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 4.13 False ENSG00000066230 ENSG00000066230 HGNC:11073 TRPM6 gene TRPM6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia with Secondary Hypocalcemia False 1 0;0;100 4.13 False ENSG00000119121 ENSG00000119121 HGNC:17995 VDR gene VDR Expert Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;100 4.13 False ENSG00000111424 ENSG00000111424 HGNC:12679 ZNF365 gene ZNF365 Expert;Expert Review Red Nephrocalcinosis or nephrolithiasis Disorders of function Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Possible cause of uric acid stones;{Nephrolithiasis, uric acid, susceptibility to} False 1 50;0;50 4.13 True ENSG00000138311 ENSG00000138311 HGNC:18194