Entry Search - 145260 601844 603136 605232 605775 614491 614492 614495 614496

Search: '145260 601844 603136 605232 605775 614491 614492 614495 614496 (Search in: MIM number)'

Results: 9 entries.

# 614495. PSEUDOHYPOALDOSTERONISM, TYPE IID; PHA2D
Cytogenetic location: 5q31.2
Matching terms: 614495
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
5q31.2	Pseudohypoaldosteronism, type IID	614495	AD, AR	3	KLHL3	605775

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Pseudohypoaldosteronism, type II - PS145260 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q31-q42	Pseudohypoaldosteronism, type IIA	AD	2	145260	PHA2A	145260
2q36.2	Pseudohypoaldosteronism, type IIE	AD	3	614496	CUL3	603136
5q31.2	Pseudohypoaldosteronism, type IID	AD, AR	3	614495	KLHL3	605775
12p13.33	Pseudohypoaldosteronism, type IIC	AD	3	614492	WNK1	605232
17q21.2	Pseudohypoaldosteronism, type IIB	AD	3	614491	WNK4	601844

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Links
Testing GTR EuroGentest Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty… Gene Reviews Genetic Alliance GTR GARD OrphaNet Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty…

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ICD+
ORPHA: 300525, 757

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% 145260. PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A
Cytogenetic location: 1q31-q42, Genomic coordinates (GRCh38): 1:185,800,001-236,400,000
Matching terms: 145260
► Gene-Phenotype Relationships ► Phenotypic Series ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q31-q42	Pseudohypoaldosteronism, type IIA	145260	AD	2

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Pseudohypoaldosteronism, type II - PS145260 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q31-q42	Pseudohypoaldosteronism, type IIA	AD	2	145260	PHA2A	145260
2q36.2	Pseudohypoaldosteronism, type IIE	AD	3	614496	CUL3	603136
5q31.2	Pseudohypoaldosteronism, type IID	AD, AR	3	614495	KLHL3	605775
12p13.33	Pseudohypoaldosteronism, type IIC	AD	3	614492	WNK1	605232
17q21.2	Pseudohypoaldosteronism, type IIB	AD	3	614491	WNK4	601844

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Links
Testing GTR EuroGentest Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty…	Gene Info BioGPS KEGG NCBI Gene	Clinical Resources Clinical Trials EuroGentest Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty… Gene Reviews GTR GARD OrphaNet Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty…

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ICD+
SNOMEDCT: 15689008, 703254001 ORPHA: 757, 88938

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* 601844. PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:42,780,610-42,797,066
Matching terms: 601844
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q21.2	Pseudohypoaldosteronism, type IIB	614491	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 603136. CULLIN 3; CUL3
Cytogenetic location: 2q36.2, Genomic coordinates (GRCh38): 2:224,470,150-224,585,363
Matching terms: 603136
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q36.2	Neurodevelopmental disorder with or without autism or seizures	619239	AD	3
2q36.2	Pseudohypoaldosteronism, type IIE	614496	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 605232. PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1
WNK1/HSN2 ISOFORM, INCLUDED
Cytogenetic location: 12p13.33, Genomic coordinates (GRCh38): 12:752,579-911,452
Matching terms: 605232
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12p13.33	Neuropathy, hereditary sensory and autonomic, type II	201300	AR	3
12p13.33	Pseudohypoaldosteronism, type IIC	614492	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 860809000

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* 605775. KELCH-LIKE 3; KLHL3
Cytogenetic location: 5q31.2, Genomic coordinates (GRCh38): 5:137,617,500-137,736,089
Matching terms: 605775
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q31.2	Pseudohypoaldosteronism, type IID	614495	AD, AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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# 614491. PSEUDOHYPOALDOSTERONISM, TYPE IIB; PHA2B
Cytogenetic location: 17q21.2
Matching terms: 614491
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
17q21.2	Pseudohypoaldosteronism, type IIB	614491	AD	3	WNK4	601844

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Pseudohypoaldosteronism, type II - PS145260 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q31-q42	Pseudohypoaldosteronism, type IIA	AD	2	145260	PHA2A	145260
2q36.2	Pseudohypoaldosteronism, type IIE	AD	3	614496	CUL3	603136
5q31.2	Pseudohypoaldosteronism, type IID	AD, AR	3	614495	KLHL3	605775
12p13.33	Pseudohypoaldosteronism, type IIC	AD	3	614492	WNK1	605232
17q21.2	Pseudohypoaldosteronism, type IIB	AD	3	614491	WNK4	601844

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Links
Testing GTR EuroGentest Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty… Gene Reviews Genetic Alliance GTR GARD OrphaNet Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty…	Animal Models OMIA

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ICD+
ORPHA: 757, 88939

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# 614492. PSEUDOHYPOALDOSTERONISM, TYPE IIC; PHA2C
Cytogenetic location: 12p13.33
Matching terms: 614492
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12p13.33	Pseudohypoaldosteronism, type IIC	614492	AD	3	WNK1	605232

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Pseudohypoaldosteronism, type II - PS145260 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q31-q42	Pseudohypoaldosteronism, type IIA	AD	2	145260	PHA2A	145260
2q36.2	Pseudohypoaldosteronism, type IIE	AD	3	614496	CUL3	603136
5q31.2	Pseudohypoaldosteronism, type IID	AD, AR	3	614495	KLHL3	605775
12p13.33	Pseudohypoaldosteronism, type IIC	AD	3	614492	WNK1	605232
17q21.2	Pseudohypoaldosteronism, type IIB	AD	3	614491	WNK4	601844

▲ Close

Links
Testing GTR EuroGentest Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty… Gene Reviews GTR GARD OrphaNet Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty…

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ICD+
ORPHA: 757, 88940

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# 614496. PSEUDOHYPOALDOSTERONISM, TYPE IIE; PHA2E
Cytogenetic location: 2q36.2
Matching terms: 614496
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2q36.2	Pseudohypoaldosteronism, type IIE	614496	AD	3	CUL3	603136

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Pseudohypoaldosteronism, type II - PS145260 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q31-q42	Pseudohypoaldosteronism, type IIA	AD	2	145260	PHA2A	145260
2q36.2	Pseudohypoaldosteronism, type IIE	AD	3	614496	CUL3	603136
5q31.2	Pseudohypoaldosteronism, type IID	AD, AR	3	614495	KLHL3	605775
12p13.33	Pseudohypoaldosteronism, type IIC	AD	3	614492	WNK1	605232
17q21.2	Pseudohypoaldosteronism, type IIB	AD	3	614491	WNK4	601844

▲ Close

Links
Testing GTR EuroGentest Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty…	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty… Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet Pseudohypoaldosteronism ty… Pseudohypoaldosteronism ty…

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ICD+
ORPHA: 300530, 757

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Search: 145260 601844 603136 605232 605775 614491 614492 614495 614496 (Search in: MIM number)

Results: 9 entries.

# 614495. PSEUDOHYPOALDOSTERONISM, TYPE IID; PHA2D
Cytogenetic location: 5q31.2
Matching terms: 614495

% 145260. PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A
Cytogenetic location: 1q31-q42, Genomic coordinates (GRCh38): 1:185,800,001-236,400,000
Matching terms: 145260

* 601844. PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:42,780,610-42,797,066
Matching terms: 601844

* 603136. CULLIN 3; CUL3
Cytogenetic location: 2q36.2, Genomic coordinates (GRCh38): 2:224,470,150-224,585,363
Matching terms: 603136

* 605232. PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1
WNK1/HSN2 ISOFORM, INCLUDED
Cytogenetic location: 12p13.33, Genomic coordinates (GRCh38): 12:752,579-911,452
Matching terms: 605232

* 605775. KELCH-LIKE 3; KLHL3
Cytogenetic location: 5q31.2, Genomic coordinates (GRCh38): 5:137,617,500-137,736,089
Matching terms: 605775

# 614491. PSEUDOHYPOALDOSTERONISM, TYPE IIB; PHA2B
Cytogenetic location: 17q21.2
Matching terms: 614491

# 614492. PSEUDOHYPOALDOSTERONISM, TYPE IIC; PHA2C
Cytogenetic location: 12p13.33
Matching terms: 614492

# 614496. PSEUDOHYPOALDOSTERONISM, TYPE IIE; PHA2E
Cytogenetic location: 2q36.2
Matching terms: 614496

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