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 AIRE gene AIRE Expert list;Expert Review Green Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 35521792 False 3 100;0;0 1.24 False ENSG00000160224 ENSG00000160224 HGNC:360 ALPL gene ALPL Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypophosphatasia, infantile, OMIM #241500;Hypophosphatasia, childhood, OMIM #241510;Hypophosphatasia, adult, OMIM # 146300;Odontohypophosphatasia, OMIM #146300 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 False 3 100;0;0 1.24 True ENSG00000162551 ENSG00000162551 HGNC:438 AP2S1 gene AP2S1 Expert Review Green;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalciuric hypercalcaemia, type III, MIM# 600740;MONDO:0010926 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 23222959;33729479;33168530;3204769;31723423;29479578 False 3 100;0;0 1.24 True ENSG00000042753 ENSG00000042753 HGNC:565 ATP6V1B1 gene ATP6V1B1 Expert Review Green;Literature Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss MONDO:0009968 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 35738466;18386070 False 3 100;0;0 1.24 True ENSG00000116039 ENSG00000116039 HGNC:853 CASR gene CASR Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hyperparathyroidism, neonatal MIM#239200;Hypocalcemia, autosomal dominant MIM#601198;Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198;hypercalcemia, type I MIM#145980 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 7916660;7726161;8675635;17698911;22620673;26646938;22422767 False 3 100;0;0 1.24 True ENSG00000036828 ENSG00000036828 HGNC:1514 CDC73 gene CDC73 Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperparathyroidism-jaw tumour syndrome, MIM# 145001;Hyperparathyroidism, familial primary, MIM# 145000 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 12434154 False 3 100;0;0 1.24 True ENSG00000134371 ENSG00000134371 HGNC:16783 CDKN1B gene CDKN1B Expert list;Expert Review Green;Literature Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia type 4, MEN4, OMIM #610755 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 24819502, 17030811, 23555276 False 3 100;0;0 1.24 True ENSG00000111276 ENSG00000111276 HGNC:1785 CLCN5 gene CLCN5 Expert list;Expert Review Green;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypophosphatemic rickets, MIM# 300554;Hypophosphatemic rickets, MIM# 300554 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 8559248, 9596078 False 3 67;33;0 1.24 False ENSG00000171365 ENSG00000171365 HGNC:2023 CTNS gene CTNS Expert list;Expert Review Green Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Cystinosis, nephropathic MIM#219800 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 20301574, 9537412, 31068690 False 3 100;0;0 1.24 False ENSG00000040531 ENSG00000040531 HGNC:2518 CYP24A1 gene CYP24A1 Expert Review Green;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypercalcaemia, infantile, 1, MIM# 143880;MONDO:0020739 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 21675912;22047572;33516786;33186763;32866123;32743688 False 3 100;0;0 1.24 True ENSG00000019186 ENSG00000019186 HGNC:2602 CYP27B1 gene CYP27B1 Expert Review Green;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets, type I MIM#264700 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 9486994;9415400;12050193;27473561;34492747;33823104 False 3 100;0;0 1.24 True ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2R1 gene CYP2R1 Expert list;Expert Review Green;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 15128933;28548312 False 3 100;0;0 1.24 True ENSG00000186104 ENSG00000186104 HGNC:20580 DMP1 gene DMP1 Expert Review Green;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets MIM#241520 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 32920683;17033625;17033621 False 3 100;0;0 1.24 True ENSG00000152592 ENSG00000152592 HGNC:2932 EHHADH gene EHHADH Expert Review Green;Literature Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 3 MONDO:0014275 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 24401050;35738466;38310177 False 3 100;0;0 1.24 True ENSG00000113790 ENSG00000113790 HGNC:3247 ENPP1 gene ENPP1 Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 20016754;20137773;20137772 False 3 100;0;0 1.24 True ENSG00000197594 ENSG00000197594 HGNC:3356 FAH gene FAH Expert list;Expert Review Green;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I, MIM# 276700 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 False 3 100;0;0 1.24 True ENSG00000103876 ENSG00000103876 HGNC:3579 FAM111A gene FAM111A Expert Review Green;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant Kenny-Caffey syndrome MONDO:0007478 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 23684011;32996714;32765931;33010201 False 3 100;0;0 1.24 True ENSG00000166801 ENSG00000166801 HGNC:24725 FAM20A gene FAM20A Expert Review Green;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 23434854;23697977;23468644;24756937;21549343;24259279;24196488;26502894;25827751;21990045 False 3 100;0;0 1.24 True ENSG00000108950 ENSG00000108950 HGNC:23015 FAM20C gene FAM20C Expert list;Expert Review Green Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Raine syndrome, MIM# 259775 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 False 3 100;0;0 1.24 True ENSG00000177706 ENSG00000177706 HGNC:22140 FGF23 gene FGF23 Expert Review Green;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal autosomal dominant hypophosphatemic rickets MONDO:0008660;familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 11062477;14966565;15590700;16151858;16030159;25378588;34444516 False 3 100;0;0 1.24 True Other ENSG00000118972 ENSG00000118972 HGNC:3680 GALNT3 gene GALNT3 Expert Review Green;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 15133511, 20358599, 32125652 False 3 100;0;0 1.24 True ENSG00000115339 ENSG00000115339 HGNC:4125 GATA3 gene GATA3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722 False 3 100;0;0 1.24 False ENSG00000107485 ENSG00000107485 HGNC:4172 GATM gene GATM Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 1, MIM# 134600 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 29654216 False 3 100;0;0 1.24 False ENSG00000171766 ENSG00000171766 HGNC:4175 GCM2 gene GCM2 Expert list;Expert Review Green;Literature;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hyperparathyroidism 4, OMIM #617343;Hypoparathyroidism, familial isolated 2, OMIM #618883 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 27745835, 20190276, 34967908, 35038313 False 3 100;0;0 1.24 True ENSG00000124827 ENSG00000124827 HGNC:4198 GNA11 gene GNA11 Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalcemia, autosomal dominant 2 MIM#615361;Hypocalciuric hypercalcemia, type II MIM#145981 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 23802536;23802516;24823460;26818911;27334330 False 3 100;0;0 1.24 True Other ENSG00000088256 ENSG00000088256 HGNC:4379 GNAS gene GNAS Expert list;Expert Review Green Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Pseudohypoparathyroidism Ia, MIM# 103580" Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 False 3 100;0;0 1.24 True ENSG00000087460 ENSG00000087460 HGNC:4392 HRAS gene HRAS Expert Review Green;Literature Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders Other Costello syndrome MONDO:0009026 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 35738466;36943390;30373874;27444071 False 3 100;0;0 1.24 True Other ENSG00000174775 ENSG00000174775 HGNC:5173 INPPL1 gene INPPL1 Expert Review Green;Other Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal opsismodysplasia MONDO:0009785 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 23273567 False 3 100;0;0 1.24 True ENSG00000165458 ENSG00000165458 HGNC:6080 MEN1 gene MEN1 Expert list;Expert Review Green Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia 1 MIM#131100 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 31797261, 14985373 False 3 100;0;0 1.24 True ENSG00000133895 ENSG00000133895 HGNC:7010 NRAS gene NRAS Expert Review Green;Literature Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders Other Costello syndrome MONDO:0009026 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 24006476;35999193;32157705;27900779 False 3 100;0;0 1.24 True Other ENSG00000213281 ENSG00000213281 HGNC:7989 OCRL gene OCRL Expert list;Expert Review Green;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lowe syndrome, MIM# 309000;Dent disease 2, MIM #300555 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 19773212, 27625797 False 3 100;0;0 1.24 False ENSG00000122126 ENSG00000122126 HGNC:8108 PHEX gene PHEX Expert Review Green;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypophosphatemic rickets, MIM#307800 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 False 3 100;0;0 1.24 True ENSG00000102174 ENSG00000102174 HGNC:8918 PTH gene PTH Expert list;Expert Review Green;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypoparathyroidism, familial isolated 1, MIM# 146200 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 2212001, 1302009, 10523031, 35165722, 32421798 False 3 100;0;0 1.24 False ENSG00000152266 ENSG00000152266 HGNC:9606 PTH1R gene PTH1R Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metaphyseal chondrodysplasia, Murk Jansen type, MIM# 156400;MONDO:0007982 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 7701349;29788189 False 3 100;0;0 1.24 True Other ENSG00000160801 ENSG00000160801 HGNC:9608 RET gene RET Expert list;Expert Review;Expert Review Green Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia IIA, MIM# 171400;Multiple endocrine neoplasia IIB, MIM# 162300 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 False 3 100;0;0 1.24 True ENSG00000165731 ENSG00000165731 HGNC:9967 SLC12A1 gene SLC12A1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, OMIM #601678 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 8640224, 9355073, 28095294 False 3 100;0;0 1.24 False ENSG00000074803 ENSG00000074803 HGNC:10910 SLC2A2 gene SLC2A2 Expert Review Green;Literature Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal glycogen storage disease due to GLUT2 deficiency MONDO:0009216 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 35738466 False 3 100;0;0 1.24 True ENSG00000163581 ENSG00000163581 HGNC:11006 SLC34A1 gene SLC34A1 Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypercalcaemia, infantile, 2 MIM#616963 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 26047794;33516786;33099630;32866123;31188746;30943683 False 3 100;0;0 1.24 True ENSG00000131183 ENSG00000131183 HGNC:11019 SLC34A3 gene SLC34A3 Expert Review Green;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphataemic rickets with hypercalciuria, (MIM#241530) Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 32524022 False 3 100;0;0 1.24 True ENSG00000198569 ENSG00000198569 HGNC:20305 SLC4A1 gene SLC4A1 Expert Review Green;Literature Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0012700 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 35738466 False 3 100;0;0 1.24 True ENSG00000004939 ENSG00000004939 HGNC:11027 STX16 gene STX16 Expert list;Expert Review Green Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism, type IB, MIM#603233 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 14561710;15579741;27338644;24438374 False 3 100;0;0 1.24 True ENSG00000124222 ENSG00000124222 HGNC:11431 TBCE gene TBCE Expert Review Green;Literature Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 PMID: 27666369 False 3 100;0;0 1.24 False ENSG00000116957 ENSG00000116957 HGNC:11582 TRPV6 gene TRPV6 Expert Review Green;Other;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hyperparathyroidism, transient neonatal, MIM# 618188 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 31930989;29861107 False 3 100;0;0 1.24 True ENSG00000165125 ENSG00000165125 HGNC:14006 VDR gene VDR Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Rickets, vitamin D-resistant, type IIA, MIM# 277440 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 2849209;9005998;17970811 False 3 100;0;0 1.24 True ENSG00000111424 ENSG00000111424 HGNC:12679 ADCY10 gene ADCY10 Expert list;Expert Review Amber Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercalciuria, absorptive, susceptibility to, MIM#143870 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 11932268 False 2 0;100;0 1.24 True ENSG00000143199 ENSG00000143199 HGNC:21285 FGFR1 gene FGFR1 Expert Review Amber;Other Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted osteoglophonic dwarfism MONDO:0008150 Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 35738466;36999651;29147600;26839958 False 2 0;100;0 1.24 True ENSG00000077782 ENSG00000077782 HGNC:3688 KL gene KL Expert Review Amber;KidGen_CalcPhos v38.1.0 Calcium and Phosphate disorders Renal and urinary tract disorders; Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994;Hyperphosphatemia Abnormal blood calcium levels;HP:0004363; Abnormal blood phosphate levels;HP:0100529 17710231;31013726;9363890 False 2 0;100;0 1.24 True ENSG00000133116 ENSG00000133116 HGNC:6344