Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal blood cation concentration (HP:0010929)

Parent Node:
Abnormal blood monovalent inorganic cation concentration (HP:0010930)

..Starting node
..Abnormal blood potassium concentration (HP:0011042)

Term ID:

11042

Name:

Abnormal blood potassium concentration

Synonym:

Abnormal blood K concentration; Abnormality of potassium homeostasis

Definition:

An abnormal concentration of potassium.

Comments:

Reference:

HP:0011042

Genes and Diseases:

Child Nodes:

........

Hyperkalemia (HP:0002153)

........

Hypokalemia (HP:0002900)

................... HP:0012726 Episodic hypokalemia

Sister Nodes:

Abnormal blood sodium concentration (HP:0010931)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia		20
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome		289
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency		50
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome		539
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2		4
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability		4
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated		4
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome		572
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1		247
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1		247
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome		18
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome		13
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome		16
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome		148
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II		44
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II		44
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3		27
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis		178
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE		92
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency		112
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency		73
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism		73
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal		17
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1		86
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess		14
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess		14
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2		106
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome		148
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome		43
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome		901
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome		121
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III		128
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III		128
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome		128
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	3
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome		730
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID		118
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient		6
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency		13
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome		4
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome		79
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant		109
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	36
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1		1200
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome		146
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis		263
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis		263
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1		263
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCN4A CL E G H	6329	10591	OMIM:613345	Hypokalemic periodic paralysis, type 2		263
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040283 - Occasional	263
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome		110
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome		1134
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome		67
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3		67
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive		67
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome		61
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1		61
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome		57
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency		4
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital		89
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects		255
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome		71
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	109
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia		109
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome		118
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome		123
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome		145
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC		199
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB		71
HP:0011042	HP:0011042	Abnormal blood potassium concentration	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0011042	HP:0002153	Hyperkalemia	1	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia	HP:0040281 - Very frequent	20
HP:0011042	HP:0002153	Hyperkalemia	1	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0011042	HP:0002900	Hypokalemia	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0011042	HP:0002900	Hypokalemia	1	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	289
HP:0011042	HP:0002153	Hyperkalemia	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional	50
HP:0011042	HP:0002900	Hypokalemia	1	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	539
HP:0011042	HP:0002900	Hypokalemia	1	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.	4
HP:0011042	HP:0002900	Hypokalemia	1	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability		4
HP:0011042	HP:0002900	Hypokalemia	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0011042	HP:0002900	Hypokalemia	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome	.	385
HP:0011042	HP:0002900	Hypokalemia	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0011042	HP:0002900	Hypokalemia	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	53
HP:0011042	HP:0002153	Hyperkalemia	1	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.	4
HP:0011042	HP:0002900	Hypokalemia	1	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	572
HP:0011042	HP:0002900	Hypokalemia	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.	51
HP:0011042	HP:0002900	Hypokalemia	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040281 - Very frequent	51
HP:0011042	HP:0002900	Hypokalemia	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0011042	HP:0002900	Hypokalemia	1	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1	.	247
HP:0011042	HP:0002153	Hyperkalemia	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	247
HP:0011042	HP:0002153	Hyperkalemia	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare	247
HP:0011042	HP:0002900	Hypokalemia	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0011042	HP:0002900	Hypokalemia	1	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1	.	247
HP:0011042	HP:0002900	Hypokalemia	1	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	18
HP:0011042	HP:0002900	Hypokalemia	1	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	13
HP:0011042	HP:0002900	Hypokalemia	1	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	16
HP:0011042	HP:0002900	Hypokalemia	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1	HP:0040283 - Occasional	272
HP:0011042	HP:0002900	Hypokalemia	1	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	148
HP:0011042	HP:0002900	Hypokalemia	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0011042	HP:0002900	Hypokalemia	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0011042	HP:0002900	Hypokalemia	1	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040283 - Occasional	44
HP:0011042	HP:0002900	Hypokalemia	1	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II	HP:0040284 - Very rare	44
HP:0011042	HP:0002900	Hypokalemia	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0011042	HP:0002900	Hypokalemia	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	9
HP:0011042	HP:0002900	Hypokalemia	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0011042	HP:0002900	Hypokalemia	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0011042	HP:0002900	Hypokalemia	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040281 - Very frequent	27
HP:0011042	HP:0002900	Hypokalemia	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	27
HP:0011042	HP:0002900	Hypokalemia	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome	.	3
HP:0011042	HP:0002900	Hypokalemia	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0011042	HP:0002153	Hyperkalemia	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011042	HP:0002153	Hyperkalemia	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0011042	HP:0002900	Hypokalemia	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0011042	HP:0002900	Hypokalemia	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0011042	HP:0002900	Hypokalemia	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0011042	HP:0002900	Hypokalemia	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0011042	HP:0002153	Hyperkalemia	1	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.	92
HP:0011042	HP:0002153	Hyperkalemia	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0011042	HP:0002153	Hyperkalemia	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0011042	HP:0002900	Hypokalemia	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.	112
HP:0011042	HP:0002900	Hypokalemia	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040281 - Very frequent	112
HP:0011042	HP:0002900	Hypokalemia	1	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional	112
HP:0011042	HP:0002153	Hyperkalemia	1	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0011042	HP:0002153	Hyperkalemia	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040281 - Very frequent	73
HP:0011042	HP:0002900	Hypokalemia	1	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional	73
HP:0011042	HP:0002153	Hyperkalemia	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0011042	HP:0002900	Hypokalemia	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0011042	HP:0002900	Hypokalemia	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011042	HP:0002900	Hypokalemia	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0011042	HP:0002900	Hypokalemia	1	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal	.	17
HP:0011042	HP:0002153	Hyperkalemia	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare
HP:0011042	HP:0002900	Hypokalemia	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0011042	HP:0002900	Hypokalemia	1	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.	86
HP:0011042	HP:0002900	Hypokalemia	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0011042	HP:0002900	Hypokalemia	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0011042	HP:0002900	Hypokalemia	1	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.	14
HP:0011042	HP:0002900	Hypokalemia	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040281 - Very frequent	14
HP:0011042	HP:0002153	Hyperkalemia	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0011042	HP:0002900	Hypokalemia	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0011042	HP:0002900	Hypokalemia	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0011042	HP:0002153	Hyperkalemia	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0011042	HP:0002900	Hypokalemia	1	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	148
HP:0011042	HP:0002900	Hypokalemia	1	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	43
HP:0011042	HP:0002900	Hypokalemia	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0011042	HP:0002900	Hypokalemia	1	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	901
HP:0011042	HP:0002900	Hypokalemia	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0011042	HP:0002900	Hypokalemia	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0011042	HP:0002900	Hypokalemia	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0011042	HP:0002153	Hyperkalemia	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare	10
HP:0011042	HP:0002900	Hypokalemia	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0011042	HP:0002900	Hypokalemia	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2	.	10
HP:0011042	HP:0002900	Hypokalemia	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0011042	HP:0002900	Hypokalemia	1	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040281 - Very frequent	128
HP:0011042	HP:0002900	Hypokalemia	1	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	.	128
HP:0011042	HP:0002900	Hypokalemia	1	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	128
HP:0011042	HP:0002900	Hypokalemia	1	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	730
HP:0011042	HP:0002153	Hyperkalemia	1	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID	.	118
HP:0011042	HP:0002153	Hyperkalemia	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0011042	HP:0002153	Hyperkalemia	1	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.	95
HP:0011042	HP:0002900	Hypokalemia	1	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient	.	6
HP:0011042	HP:0002153	Hyperkalemia	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0011042	HP:0002153	Hyperkalemia	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0011042	HP:0002900	Hypokalemia	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0011042	HP:0002153	Hyperkalemia	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0011042	HP:0002153	Hyperkalemia	1	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	HP:0040283 - Occasional	13
HP:0011042	HP:0002900	Hypokalemia	1	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	4
HP:0011042	HP:0002900	Hypokalemia	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040282 - Frequent	79
HP:0011042	HP:0002153	Hyperkalemia	1	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0011042	HP:0002900	Hypokalemia	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0011042	HP:0002153	Hyperkalemia	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0011042	HP:0002153	Hyperkalemia	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0011042	HP:0002900	Hypokalemia	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0011042	HP:0002900	Hypokalemia	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0011042	HP:0002153	Hyperkalemia	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0011042	HP:0002153	Hyperkalemia	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	1200
HP:0011042	HP:0002153	Hyperkalemia	1	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1	.	1200
HP:0011042	HP:0002153	Hyperkalemia	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0011042	HP:0002900	Hypokalemia	1	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	146
HP:0011042	HP:0002153	Hyperkalemia	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040282 - Frequent	263
HP:0011042	HP:0002153	Hyperkalemia	1	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis	.	263
HP:0011042	HP:0002900	Hypokalemia	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional	263
HP:0011042	HP:0002900	Hypokalemia	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0011042	HP:0002900	Hypokalemia	1	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1	.	263
HP:0011042	HP:0002900	Hypokalemia	1	SCN4A CL E G H	6329	10591	OMIM:613345	Hypokalemic periodic paralysis, type 2	.	263
HP:0011042	HP:0002900	Hypokalemia	1	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	110
HP:0011042	HP:0002900	Hypokalemia	1	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	1134
HP:0011042	HP:0002153	Hyperkalemia	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	67
HP:0011042	HP:0002900	Hypokalemia	1	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome	HP:0040281 - Very frequent	67
HP:0011042	HP:0002900	Hypokalemia	1	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3	.	67
HP:0011042	HP:0002153	Hyperkalemia	1	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0011042	HP:0002153	Hyperkalemia	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	61
HP:0011042	HP:0002900	Hypokalemia	1	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome	HP:0040281 - Very frequent	61
HP:0011042	HP:0002900	Hypokalemia	1	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1	.	61
HP:0011042	HP:0002153	Hyperkalemia	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	57
HP:0011042	HP:0002900	Hypokalemia	1	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome	HP:0040281 - Very frequent	57
HP:0011042	HP:0002900	Hypokalemia	1	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2	.	57
HP:0011042	HP:0002900	Hypokalemia	1	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency		4
HP:0011042	HP:0002900	Hypokalemia	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0011042	HP:0002900	Hypokalemia	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome	.	145
HP:0011042	HP:0002900	Hypokalemia	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040281 - Very frequent	145
HP:0011042	HP:0002900	Hypokalemia	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.	89
HP:0011042	HP:0002153	Hyperkalemia	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.	255
HP:0011042	HP:0002900	Hypokalemia	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.	71
HP:0011042	HP:0002153	Hyperkalemia	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.	1
HP:0011042	HP:0002900	Hypokalemia	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0011042	HP:0002900	Hypokalemia	1	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0011042	HP:0002900	Hypokalemia	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	.	109
HP:0011042	HP:0002900	Hypokalemia	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0011042	HP:0002900	Hypokalemia	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome	.	504
HP:0011042	HP:0002900	Hypokalemia	1	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	118
HP:0011042	HP:0002153	Hyperkalemia	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0011042	HP:0002900	Hypokalemia	1	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	123
HP:0011042	HP:0002900	Hypokalemia	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0011042	HP:0002900	Hypokalemia	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0011042	HP:0002900	Hypokalemia	1	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare	145
HP:0011042	HP:0002153	Hyperkalemia	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85
HP:0011042	HP:0002900	Hypokalemia	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0011042	HP:0002900	Hypokalemia	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0011042	HP:0002153	Hyperkalemia	1	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC	.	199
HP:0011042	HP:0002153	Hyperkalemia	1	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB	.	71
HP:0011042	HP:0002900	Hypokalemia	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0011042	HP:0012726	Episodic hypokalemia	2	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability	HP:0040282 - Frequent	4
HP:0011042	HP:0012726	Episodic hypokalemia	2	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	247
HP:0011042	HP:0012726	Episodic hypokalemia	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate	247
HP:0011042	HP:0012726	Episodic hypokalemia	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate
HP:0011042	HP:0012726	Episodic hypokalemia	2	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	73
HP:0011042	HP:0012726	Episodic hypokalemia	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate	10
HP:0011042	HP:0012726	Episodic hypokalemia	2	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	263

Genes (103) :ABCB6 AIP AKAP9 ALDOA ANK2 ATP1A1 ATP6V0A4 BMPR1A BSND CA12 CACNA1C CACNA1D CACNA1S CALM1 CALM2 CALM3 CASR CAV3 CDH23 CDKN2A CLCN2 CLCNKA CLCNKB CLDN10 COL3A1 COX1 COX3 CTNNB1 CTNS CUL3 CYP11A1 CYP11B1 CYP11B2 CYP17A1 DEF6 EHHADH FXYD2 GABRA3 GATM GEMIN4 HSD11B2 HSD3B2 INSR INVS KCNE1 KCNE2 KCNE3 KCNH2 KCNJ1 KCNJ10 KCNJ18 KCNJ2 KCNJ5 KCNN4 KCNQ1 KLHL3 LPIN1 MAGED2 MC2R MRAP NDUFAF6 NNT NOS1AP NR3C1 NR3C2 OCRL PAX2 PBX1 PIEZO1 PKD2 PRKAR1A RYR1 SAMD9 SCN10A SCN4A SCN4B SCN5A SCNN1A SCNN1B SCNN1G SERPINA6 SLC12A1 SLC12A3 SLC26A3 SLC2A1 SLC2A2 SLC30A9 SLC34A1 SLC4A1 SLC4A4 SMAD4 SNTA1 STAR TBX5 TERT TP53 TRDN TXNRD2 UNC45A USP8 WNK1 WNK4 ZNRF3

Diseases (98) :ORPHA:90044 OMIM:609153 OMIM:219090 ORPHA:101016 ORPHA:57 OMIM:618314 ORPHA:564178 OMIM:602722 OMIM:174900 OMIM:602522 ORPHA:89938 OMIM:143860 OMIM:615474 ORPHA:369929 ORPHA:681 OMIM:170400 ORPHA:423 ORPHA:79102 OMIM:188580 OMIM:601198 ORPHA:91347 ORPHA:1501 ORPHA:404 OMIM:605635 OMIM:613090 OMIM:607364 ORPHA:358 OMIM:617671 ORPHA:286 ORPHA:99845 OMIM:219800 ORPHA:411629 ORPHA:411634 OMIM:614496 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:90795 ORPHA:403 OMIM:203400 ORPHA:556030 OMIM:610600 ORPHA:90793 OMIM:619573 ORPHA:3337 OMIM:154020 OMIM:134600 OMIM:617913 ORPHA:320 OMIM:218030 ORPHA:90791 ORPHA:508 ORPHA:769 OMIM:602088 OMIM:241200 ORPHA:199343 OMIM:612780 OMIM:613239 OMIM:170390 ORPHA:251274 OMIM:613677 ORPHA:3202 OMIM:614495 OMIM:268200 OMIM:300971 ORPHA:361 OMIM:614736 ORPHA:786 OMIM:177735 ORPHA:534 ORPHA:97362 OMIM:613095 ORPHA:466650 OMIM:145600 OMIM:617053 OMIM:170500 ORPHA:682 OMIM:613345 ORPHA:684 ORPHA:171876 ORPHA:526 OMIM:618126 OMIM:264350 OMIM:177200 OMIM:618114 OMIM:611489 OMIM:601678 OMIM:263800 OMIM:214700 OMIM:608885 OMIM:227810 OMIM:617595 OMIM:179800 OMIM:611590 OMIM:604278 OMIM:619377 OMIM:614492 OMIM:614491

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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