Entry Search - 104160 173900 173910 600666 601313 604565 606941 611341 613095 614620 618061 620056

Search: '104160 173900 173910 600666 601313 604565 606941 611341 613095 614620 618061 620056 (Search in: MIM number)'

Results: 12 entries.

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* 104160. GLUCOSIDASE, ALPHA, NEUTRAL AB; GANAB
Cytogenetic location: 11q12.3, Genomic coordinates (GRCh38): 11:62,624,829-62,646,613
Matching terms: 104160
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11q12.3	Polycystic kidney disease 3	600666	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 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 WBGene00009583 WBGene00018682 ZFin	Cellular Pathways KEGG Reactome

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# 600666. POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3
Cytogenetic location: 11q12.3
Matching terms: 600666
► 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
11q12.3	Polycystic kidney disease 3	600666	AD	3	GANAB	104160

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Polycystic kidney disease - PS173900 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q22.3	Polycystic kidney disease 5	AR	3	617610	DZIP1L	617570
3q27.3	Polycystic kidney disease 6 with or without polycystic liver disease	AD	3	618061	DNAJB11	611341
4q22.1	Polycystic kidney disease 2	AD	3	613095	PKD2	173910
6p12.3-p12.2	Polycystic kidney disease 4, with or without hepatic disease	AR	3	263200	PKHD1	606702
11q12.3	Polycystic kidney disease 3	AD	3	600666	GANAB	104160
13q13.3	Polycystic kidney disease 7	AD	3	620056	ALG5	604565
16p13.3	Polycystic kidney disease 1	AD	3	173900	PKD1	601313
17q11.2	Polycystic kidney disease 8	AD	3	620903	NEK8	609799

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 730 DO: 0110860

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# 613095. POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2
Cytogenetic location: 4q22.1
Matching terms: 613095
► 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
4q22.1	Polycystic kidney disease 2	613095	AD	3	PKD2	173910

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Polycystic kidney disease - PS173900 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q22.3	Polycystic kidney disease 5	AR	3	617610	DZIP1L	617570
3q27.3	Polycystic kidney disease 6 with or without polycystic liver disease	AD	3	618061	DNAJB11	611341
4q22.1	Polycystic kidney disease 2	AD	3	613095	PKD2	173910
6p12.3-p12.2	Polycystic kidney disease 4, with or without hepatic disease	AR	3	263200	PKHD1	606702
11q12.3	Polycystic kidney disease 3	AD	3	600666	GANAB	104160
13q13.3	Polycystic kidney disease 7	AD	3	620056	ALG5	604565
16p13.3	Polycystic kidney disease 1	AD	3	173900	PKD1	601313
17q11.2	Polycystic kidney disease 8	AD	3	620903	NEK8	609799

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
SNOMEDCT: 253879006 ORPHA: 730 DO: 0110859

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* 611341. DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 11; DNAJB11
Cytogenetic location: 3q27.3, Genomic coordinates (GRCh38): 3:186,570,720-186,585,793
Matching terms: 611341
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3q27.3	Polycystic kidney disease 6 with or without polycystic liver disease	618061	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 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 KEGG Reactome

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* 614620. INTRAFLAGELLAR TRANSPORT 140; IFT140
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:1,510,427-1,612,072
Matching terms: 614620
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
16p13.3	Retinitis pigmentosa 80	617781	AR	3
16p13.3	Short-rib thoracic dysplasia 9 with or without polydactyly	266920	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 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 Reactome

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# 618061. POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6
Cytogenetic location: 3q27.3
Matching terms: 618061
► 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
3q27.3	Polycystic kidney disease 6 with or without polycystic liver disease	618061	AD	3	DNAJB11	611341

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Polycystic kidney disease - PS173900 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q22.3	Polycystic kidney disease 5	AR	3	617610	DZIP1L	617570
3q27.3	Polycystic kidney disease 6 with or without polycystic liver disease	AD	3	618061	DNAJB11	611341
4q22.1	Polycystic kidney disease 2	AD	3	613095	PKD2	173910
6p12.3-p12.2	Polycystic kidney disease 4, with or without hepatic disease	AR	3	263200	PKHD1	606702
11q12.3	Polycystic kidney disease 3	AD	3	600666	GANAB	104160
13q13.3	Polycystic kidney disease 7	AD	3	620056	ALG5	604565
16p13.3	Polycystic kidney disease 1	AD	3	173900	PKD1	601313
17q11.2	Polycystic kidney disease 8	AD	3	620903	NEK8	609799

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 730 DO: 0060951

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# 173900. POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1
Cytogenetic location: 16p13.3
Matching terms: 173900
► 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
16p13.3	Polycystic kidney disease 1	173900	AD	3	PKD1	601313

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Polycystic kidney disease - PS173900 - 8 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q22.3	Polycystic kidney disease 5	AR	3	617610	DZIP1L	617570
3q27.3	Polycystic kidney disease 6 with or without polycystic liver disease	AD	3	618061	DNAJB11	611341
4q22.1	Polycystic kidney disease 2	AD	3	613095	PKD2	173910
6p12.3-p12.2	Polycystic kidney disease 4, with or without hepatic disease	AR	3	263200	PKHD1	606702
11q12.3	Polycystic kidney disease 3	AD	3	600666	GANAB	104160
13q13.3	Polycystic kidney disease 7	AD	3	620056	ALG5	604565
16p13.3	Polycystic kidney disease 1	AD	3	173900	PKD1	601313
17q11.2	Polycystic kidney disease 8	AD	3	620903	NEK8	609799

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA	Cell Lines Coriell

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ICD+
SNOMEDCT: 765330003 ICD10CM: Q61.2 ICD9CM: 753.13 ORPHA: 730 DO: 0110858

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* 173910. POLYCYSTIN 2; PKD2
Cytogenetic location: 4q22.1, Genomic coordinates (GRCh38): 4:88,007,635-88,077,777
Matching terms: 173910
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4q22.1	Polycystic kidney disease 2	613095	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 gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Autosomal Dominant Polycys… Autosomal Dominant Polycys… 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 Reactome

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ICD+
SNOMEDCT: 253879006

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* 601313. POLYCYSTIN 1; PKD1
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:2,088,708-2,135,898
Matching terms: 601313
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
16p13.3	Polycystic kidney disease 1	173900	AD	3

▲ Close

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 Locus Specific DBs Autosomal Dominant Polycys… Autosomal Dominant Polycys… NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways Reactome

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10:

* 604565. ALG5 DOLICHYL-PHOSPHATE BETA-GLUCOSYLTRANSFERASE; ALG5
Cytogenetic location: 13q13.3, Genomic coordinates (GRCh38): 13:36,949,738-36,999,367
Matching terms: 604565
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
13q13.3	Polycystic kidney disease 7	620056	AD	3

▲ Close

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 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 KEGG Reactome

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Search: 104160 173900 173910 600666 601313 604565 606941 611341 613095 614620 618061 620056 (Search in: MIM number)

Results: 12 entries.

* 104160. GLUCOSIDASE, ALPHA, NEUTRAL AB; GANAB
Cytogenetic location: 11q12.3, Genomic coordinates (GRCh38): 11:62,624,829-62,646,613
Matching terms: 104160

# 600666. POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3
Cytogenetic location: 11q12.3
Matching terms: 600666

# 613095. POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2
Cytogenetic location: 4q22.1
Matching terms: 613095

* 611341. DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 11; DNAJB11
Cytogenetic location: 3q27.3, Genomic coordinates (GRCh38): 3:186,570,720-186,585,793
Matching terms: 611341

* 614620. INTRAFLAGELLAR TRANSPORT 140; IFT140
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:1,510,427-1,612,072
Matching terms: 614620

# 618061. POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6
Cytogenetic location: 3q27.3
Matching terms: 618061

# 173900. POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1
Cytogenetic location: 16p13.3
Matching terms: 173900

* 173910. POLYCYSTIN 2; PKD2
Cytogenetic location: 4q22.1, Genomic coordinates (GRCh38): 4:88,007,635-88,077,777
Matching terms: 173910

* 601313. POLYCYSTIN 1; PKD1
Cytogenetic location: 16p13.3, Genomic coordinates (GRCh38): 16:2,088,708-2,135,898
Matching terms: 601313

10:

* 604565. ALG5 DOLICHYL-PHOSPHATE BETA-GLUCOSYLTRANSFERASE; ALG5
Cytogenetic location: 13q13.3, Genomic coordinates (GRCh38): 13:36,949,738-36,999,367
Matching terms: 604565

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