Entry Search - 218330 606045 608151 613602 613610 614068 614099 614378 614620 617094

Search: '218330 606045 608151 613602 613610 614068 614099 614378 614620 617094 (Search in: MIM number)'

Results: 10 entries.

* 606045. INTRAFLAGELLAR TRANSPORT 122; IFT122
Cytogenetic location: 3q21.3-q22.1, Genomic coordinates (GRCh38): 3:129,440,224-129,520,507
Matching terms: 606045
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3q21.3-q22.1	Cranioectodermal dysplasia 1	218330	AR	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 Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs 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

▲ Close

* 608151. WD REPEAT-CONTAINING PROTEIN 19; WDR19
Cytogenetic location: 4p14, Genomic coordinates (GRCh38): 4:39,182,529-39,285,810
Matching terms: 608151
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4p14	?Spermatogenic failure 72	619867	AR	3
	Cranioectodermal dysplasia 4	614378	AR	3
	Nephronophthisis 13	614377	AR	3
	Senior-Loken syndrome 8	616307	AR	3
	Short-rib thoracic dysplasia 5 with or without polydactyly	614376	AR	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 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

▲ Close

* 613602. WD REPEAT-CONTAINING PROTEIN 35; WDR35
Cytogenetic location: 2p24.1, Genomic coordinates (GRCh38): 2:19,910,263-19,990,105
Matching terms: 613602
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p24.1	Cranioectodermal dysplasia 2	613610	AR	3
2p24.1	Short-rib thoracic dysplasia 7 with or without polydactyly	614091	AR	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 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

▲ Close

# 613610. CRANIOECTODERMAL DYSPLASIA 2; CED2
Cytogenetic location: 2p24.1
Matching terms: 613610
► 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
2p24.1	Cranioectodermal dysplasia 2	613610	AR	3	WDR35	613602

▲ Close

Cranioectodermal dysplasia - PS218330 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p24.1	Cranioectodermal dysplasia 2	AR	3	613610	WDR35	613602
3q21.3-q22.1	Cranioectodermal dysplasia 1	AR	3	218330	IFT122	606045
4p14	Cranioectodermal dysplasia 4	AR	3	614378	WDR19	608151
14q24.3	?Cranioectodermal dysplasia 3	AR	3	614099	IFT43	614068

▲ Close

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

▲ Close

ICD+
ORPHA: 1515 DO: 0080804

▲ Close

* 614068. INTRAFLAGELLAR TRANSPORT 43; IFT43
Cytogenetic location: 14q24.3, Genomic coordinates (GRCh38): 14:75,985,763-76,084,073
Matching terms: 614068
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q24.3	?Cranioectodermal dysplasia 3	614099	AR	3
	?Retinitis pigmentosa 81	617871	AR	3
	Short-rib thoracic dysplasia 18 with polydactyly	617866	AR	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 Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage 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 ZFin	Cellular Pathways Reactome

▲ Close

# 614099. CRANIOECTODERMAL DYSPLASIA 3; CED3
Cytogenetic location: 14q24.3
Matching terms: 614099
► 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
14q24.3	?Cranioectodermal dysplasia 3	614099	AR	3	IFT43	614068

▲ Close

Cranioectodermal dysplasia - PS218330 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p24.1	Cranioectodermal dysplasia 2	AR	3	613610	WDR35	613602
3q21.3-q22.1	Cranioectodermal dysplasia 1	AR	3	218330	IFT122	606045
4p14	Cranioectodermal dysplasia 4	AR	3	614378	WDR19	608151
14q24.3	?Cranioectodermal dysplasia 3	AR	3	614099	IFT43	614068

▲ Close

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

▲ Close

ICD+
ORPHA: 1515 DO: 0080805

▲ Close

* 617094. INTRAFLAGELLAR TRANSPORT 52; IFT52
Cytogenetic location: 20q13.12, Genomic coordinates (GRCh38): 20:43,590,937-43,647,299
Matching terms: 617094
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
20q13.12	Short-rib thoracic dysplasia 16 with or without polydactyly	617102	AR	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 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 Reactome

▲ Close

* 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

▲ 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 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

▲ Close

# 218330. CRANIOECTODERMAL DYSPLASIA 1; CED1
Cytogenetic location: 3q21.3-q22.1
Matching terms: 218330
► 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
3q21.3-q22.1	Cranioectodermal dysplasia 1	218330	AR	3	IFT122	606045

▲ Close

Cranioectodermal dysplasia - PS218330 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p24.1	Cranioectodermal dysplasia 2	AR	3	613610	WDR35	613602
3q21.3-q22.1	Cranioectodermal dysplasia 1	AR	3	218330	IFT122	606045
4p14	Cranioectodermal dysplasia 4	AR	3	614378	WDR19	608151
14q24.3	?Cranioectodermal dysplasia 3	AR	3	614099	IFT43	614068

▲ Close

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

▲ Close

ICD+
ORPHA: 1515 DO: 0080803

▲ Close

10:

# 614378. CRANIOECTODERMAL DYSPLASIA 4; CED4
Cytogenetic location: 4p14
Matching terms: 614378
► 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
4p14	Cranioectodermal dysplasia 4	614378	AR	3	WDR19	608151

▲ Close

Cranioectodermal dysplasia - PS218330 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p24.1	Cranioectodermal dysplasia 2	AR	3	613610	WDR35	613602
3q21.3-q22.1	Cranioectodermal dysplasia 1	AR	3	218330	IFT122	606045
4p14	Cranioectodermal dysplasia 4	AR	3	614378	WDR19	608151
14q24.3	?Cranioectodermal dysplasia 3	AR	3	614099	IFT43	614068

▲ Close

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

▲ Close

ICD+
ORPHA: 1515 DO: 0080806

▲ Close

Search: 218330 606045 608151 613602 613610 614068 614099 614378 614620 617094 (Search in: MIM number)

Results: 10 entries.

* 606045. INTRAFLAGELLAR TRANSPORT 122; IFT122
Cytogenetic location: 3q21.3-q22.1, Genomic coordinates (GRCh38): 3:129,440,224-129,520,507
Matching terms: 606045

* 608151. WD REPEAT-CONTAINING PROTEIN 19; WDR19
Cytogenetic location: 4p14, Genomic coordinates (GRCh38): 4:39,182,529-39,285,810
Matching terms: 608151

* 613602. WD REPEAT-CONTAINING PROTEIN 35; WDR35
Cytogenetic location: 2p24.1, Genomic coordinates (GRCh38): 2:19,910,263-19,990,105
Matching terms: 613602

# 613610. CRANIOECTODERMAL DYSPLASIA 2; CED2
Cytogenetic location: 2p24.1
Matching terms: 613610

* 614068. INTRAFLAGELLAR TRANSPORT 43; IFT43
Cytogenetic location: 14q24.3, Genomic coordinates (GRCh38): 14:75,985,763-76,084,073
Matching terms: 614068

# 614099. CRANIOECTODERMAL DYSPLASIA 3; CED3
Cytogenetic location: 14q24.3
Matching terms: 614099

* 617094. INTRAFLAGELLAR TRANSPORT 52; IFT52
Cytogenetic location: 20q13.12, Genomic coordinates (GRCh38): 20:43,590,937-43,647,299
Matching terms: 617094

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

# 218330. CRANIOECTODERMAL DYSPLASIA 1; CED1
Cytogenetic location: 3q21.3-q22.1
Matching terms: 218330

10:

# 614378. CRANIOECTODERMAL DYSPLASIA 4; CED4
Cytogenetic location: 4p14
Matching terms: 614378

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM^® and Online Mendelian Inheritance in Man^® are registered trademarks of the Johns Hopkins University.
Copyright^® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025