Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated genes and diseases:
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: INPPL1
disease_id: OMIM:258480
disease_name: OPSISMODYSPLASIA
gene_symbol: DMP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: ENPP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: NHERF1
disease_id: OMIM:612287
disease_name: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2
gene_symbol: SCNN1A
disease_id: OMIM:264350
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
gene_symbol: CYP21A2
disease_id: OMIM:201910
disease_name: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
gene_symbol: STAR
disease_id: OMIM:201710
disease_name: LIPOID CONGENITAL ADRENAL HYPERPLASIA
gene_symbol: STAR
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: BSND
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: BSND
disease_id: OMIM:602522
disease_name: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: CLCNKB
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKB
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: CLCNKB
disease_id: OMIM:607364
disease_name: BARTTER SYNDROME, TYPE 3
gene_symbol: CLCNKA
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKA
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: DLG5
disease_id: OMIM:620703
disease_name: YUKSEL-VOGEL-BAUER SYNDROME
gene_symbol: CYP11A1
disease_id: ORPHA:168558
disease_name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
XY sex reversal-adrenal failure
gene_symbol: CYP11A1
disease_id: ORPHA:289548
disease_name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
gene_symbol: CYP11A1
disease_id: OMIM:613743
disease_name: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
gene_symbol: CYP11B2
disease_id: OMIM:203400
disease_name: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY
gene_symbol: CYP11B2
disease_id: OMIM:610600
disease_name: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
gene_symbol: MRAP
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: MC2R
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: NNT
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: NNT
disease_id: OMIM:614736
disease_name: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY
gene_symbol: TXNRD2
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: NR0B1
disease_id: OMIM:300200
disease_name: ADRENAL HYPOPLASIA, CONGENITAL
gene_symbol: SLC12A1
disease_id: OMIM:601678
disease_name: BARTTER SYNDROME, TYPE 1, ANTENATAL
gene_symbol: KCNJ1
disease_id: OMIM:241200
disease_name: BARTTER SYNDROME, TYPE 2, ANTENATAL
gene_symbol: MUC1
disease_id: OMIM:174000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2
gene_symbol: KCNJ16
disease_id: OMIM:619406
disease_name: HYPOKALEMIC TUBULOPATHY AND DEAFNESS
gene_symbol: SARS2
disease_id: OMIM:613845
disease_name: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
gene_symbol: HSD3B2
disease_id: ORPHA:90791
disease_name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
gene_symbol: CYP11B1
disease_id: ORPHA:90795
disease_name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
gene_symbol: ATP1A1
disease_id: OMIM:618314
disease_name: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2
gene_symbol: ATP1A1
disease_id: ORPHA:564178
disease_name: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
gene_symbol: AMMECR1
disease_id: OMIM:300990
disease_name: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
gene_symbol: OCRL
disease_id: OMIM:300555
disease_name: DENT DISEASE 2
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: CLCN5
disease_id: OMIM:300554
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
gene_symbol: CLCN5
disease_id: OMIM:308990
disease_name: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
gene_symbol: CLCN5
disease_id: OMIM:300009
disease_name: DENT DISEASE 1
gene_symbol: CLCN5
disease_id: OMIM:310468
disease_name: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE
gene_symbol: PIGT
disease_id: OMIM:615398
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: SLC34A3
disease_id: OMIM:241530
disease_name: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
gene_symbol: SLC34A3
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: SLC34A1
disease_id: OMIM:616963
disease_name: HYPERCALCEMIA, INFANTILE, 2
gene_symbol: SLC34A1
disease_id: OMIM:612286
disease_name: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1
gene_symbol: SLC34A1
disease_id: OMIM:613388
disease_name: FANCONI RENOTUBULAR SYNDROME 2
gene_symbol: SLC34A1
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: SLC34A1
disease_id: ORPHA:157215
disease_name: Hereditary hypophosphatemic rickets with hypercalciuria
HHRH
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: GNA11
disease_id: ORPHA:428
disease_name: Autosomal dominant hypocalcemia
AD hypocalcemia
gene_symbol: CASR
disease_id: ORPHA:428
disease_name: Autosomal dominant hypocalcemia
AD hypocalcemia
gene_symbol: CASR
disease_id: OMIM:601198
disease_name: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
gene_symbol: CASR
disease_id: OMIM:145980
disease_name: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I
gene_symbol: CASR
disease_id: OMIM:239200
disease_name: HYPERPARATHYROIDISM, NEONATAL SEVERE
gene_symbol: PTH1R
disease_id: ORPHA:33067
disease_name: Metaphyseal chondrodysplasia, Jansen type
gene_symbol: PTH1R
disease_id: OMIM:156400
disease_name: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE
gene_symbol: SLC2A9
disease_id: ORPHA:94088
disease_name: Hereditary renal hypouricemia
Familial renal hypouricemia
gene_symbol: SLC22A12
disease_id: ORPHA:94088
disease_name: Hereditary renal hypouricemia
Familial renal hypouricemia
gene_symbol: ADCY10
disease_id: OMIM:143870
disease_name: HYPERCALCIURIA, ABSORPTIVE, 2
gene_symbol: ADCY10
disease_id: ORPHA:2197
disease_name: Idiopathic hypercalciuria
gene_symbol: RRAGD
disease_id: ORPHA:73224
disease_name: Kidney tubulopathy-dilated cardiomyopathy syndrome
gene_symbol: CDC73
disease_id: ORPHA:143
disease_name: Parathyroid carcinoma
gene_symbol: CDC73
disease_id: ORPHA:99880
disease_name: Hyperparathyroidism-jaw tumor syndrome
HPT-JT
gene_symbol: CDC73
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: SLC2A2
disease_id: OMIM:227810
disease_name: FANCONI-BICKEL SYNDROME
gene_symbol: SLC2A2
disease_id: ORPHA:2088
disease_name: Fanconi-Bickel syndrome
GSD due to GLUT2 deficiency
Glycogen storage disease due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: EHHADH
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: GATM
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: NDUFAF6
disease_id: ORPHA:3337
disease_name: Primary Fanconi renotubular syndrome
DeToni-Debré-Fanconi syndrome
Primary Fanconi renal syndrome
gene_symbol: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: MEN1
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: CDKN1B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1A
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2C
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: MAGED2
disease_id: OMIM:300971
disease_name: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
gene_symbol: CFTR
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: FCGR2A
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: TGFB1
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: HLA-DRB1
disease_id: OMIM:181000
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 1
gene_symbol: HLA-DRB1
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: FGF23
disease_id: OMIM:617993
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
gene_symbol: PIK3C2A
disease_id: OMIM:618440
disease_name: OCULOSKELETODENTAL SYNDROME
gene_symbol: KCNJ5
disease_id: OMIM:613677
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE III
gene_symbol: KCNJ5
disease_id: ORPHA:251274
disease_name: Familial hyperaldosteronism type III
FH-III
FH3
Familial hyperaldosteronism type 3
gene_symbol: HNF1B
disease_id: ORPHA:1309
disease_name: Medullary sponge kidney
Cacchi-Ricci disease
MSK
Precalicial canalicular ectasia
gene_symbol: GCM2
disease_id: ORPHA:99879
disease_name: Familial isolated hyperparathyroidism
FIHPT
gene_symbol: GCM2
disease_id: ORPHA:2239
disease_name: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: ATP6V0A4
disease_id: OMIM:602722
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS
gene_symbol: CLDN19
disease_id: OMIM:248190
disease_name: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
gene_symbol: CYP24A1
disease_id: OMIM:143880
disease_name: HYPERCALCEMIA, INFANTILE, 1
gene_symbol: CDKN1C
disease_id: OMIM:614732
disease_name: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES
gene_symbol: BTNL2
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: ALDOB
disease_id: OMIM:229600
disease_name: FRUCTOSE INTOLERANCE, HEREDITARY
gene_symbol: COX10
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MT-TS1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SCO2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MT-TN
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SCO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: FASTKD2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: TACO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SURF1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX6B1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX15
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: ABCC6
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: HNF4A
disease_id: OMIM:616026
disease_name: FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
gene_symbol: COA8
disease_id: ORPHA:436271
disease_name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
gene_symbol: NRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: KRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: AP2S1
disease_id: OMIM:600740
disease_name: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
gene_symbol: FXYD2
disease_id: OMIM:154020
disease_name: HYPOMAGNESEMIA 2, RENAL
gene_symbol: CLDN10
disease_id: OMIM:617671
disease_name: HELIX SYNDROME
gene_symbol: PHEX
disease_id: ORPHA:89936
disease_name: X-linked hypophosphatemia
X-linked hypophosphatemic rickets
XLH
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
gene_symbol: SLC12A3
disease_id: OMIM:263800
disease_name: GITELMAN SYNDROME
gene_symbol: FAM20A
disease_id: ORPHA:1031
disease_name: Enamel-renal syndrome
Amelogenesis imperfecta-nephrocalcinosis syndrome
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: GRHPR
disease_id: OMIM:260000
disease_name: HYPEROXALURIA, PRIMARY, TYPE II
gene_symbol: SERPINA6
disease_id: OMIM:611489
disease_name: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
gene_symbol: KCNJ18
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: CACNA1S
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: DNAJB11
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: GANAB
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: PKD1
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: PKD2
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: NEK8
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: ALG5
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: IFT140
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: ALG9
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: BICC1
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: KCNJ10
disease_id: ORPHA:199343
disease_name: EAST syndrome
Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
SeSAME syndrome
Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
gene_symbol: DCDC2
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: TMEM67
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: CTNS
disease_id: ORPHA:411634
disease_name: Juvenile nephropathic cystinosis
Intermediate cystinosis
Juvenile cystinosis
gene_symbol: HSD11B2
disease_id: ORPHA:320
disease_name: Apparent mineralocorticoid excess
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
gene_symbol: AVPR2
disease_id: OMIM:300539
disease_name: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5