Entry Search - 109135 136350 138850 146110 147950 152760 162330 162332 244200 300836 308700 600483 602229 602748 603286 603725 603819 603961 604161 604808 604846 606417 606807 607002 607123 607984 608137 608166 608892 610628 612370 612702 613301 614366 614381 614837 614838 614839 614840 614841 614842 614858 614880 614897 615266 615267 615269 615270 615271 616030 616031

Search: '109135 136350 138850 146110 147950 152760 162330 162332 244200 300836 308700 600483 602229 602748 603286 603725 603819 603961 604161 604808 604846 606417 606807 607002 607123 607984 608137 608166 608892 610628 612370 612702 613301 614366 614381 614837 614838 614839 614840 614841 614842 614858 614880 614897 615266 615267 615269 615270 615271 616030 616031 (Search in: MIM number)'

Results: 51 entries.

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* 109135. AXL RECEPTOR TYROSINE KINASE; AXL
Cytogenetic location: 19q13.2, Genomic coordinates (GRCh38): 19:41,219,223-41,261,766
Matching terms: 109135
► Links

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 DECIPHER gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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* 603286. KISS1 METASTASIS SUPPRESSOR; KISS1
Cytogenetic location: 1q32.1, Genomic coordinates (GRCh38): 1:204,190,341-204,196,491
Matching terms: 603286
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q32.1	?Hypogonadotropic hypogonadism 13 with or without anosmia	614842	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 ClinGen Dosage GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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* 604808. FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 3; FLRT3
Cytogenetic location: 20p12.1, Genomic coordinates (GRCh38): 20:14,322,985-14,337,612
Matching terms: 604808
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
20p12.1	Hypogonadotropic hypogonadism 21 with anosmia	615271	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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* 604846. HEPARAN SULFATE 6-O-SULFOTRANSFERASE 1; HS6ST1
Cytogenetic location: 2q14.3, Genomic coordinates (GRCh38): 2:128,265,480-128,318,868
Matching terms: 604846
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q14.3	{Hypogonadotropic hypogonadism 15 with or without anosmia}	614880	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 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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* 300836. ANOSMIN 1; ANOS1
Cytogenetic location: Xp22.31, Genomic coordinates (GRCh38): X:8,528,874-8,732,137
Matching terms: 300836
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xp22.31	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)	308700	XLR	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 MARRVEL NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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* 607984. SPROUTY RTK SIGNALING ANTAGONIST 4; SPRY4
Cytogenetic location: 5q31.3, Genomic coordinates (GRCh38): 5:142,310,430-142,325,021
Matching terms: 607984
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q31.3	Hypogonadotropic hypogonadism 17 with or without anosmia	615266	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 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

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* 608137. NMDA RECEPTOR SYNAPTONUCLEAR SIGNALING AND NEURONAL MIGRATION FACTOR; NSMF
Cytogenetic location: 9q34.3, Genomic coordinates (GRCh38): 9:137,447,570-137,459,334
Matching terms: 608137
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
9q34.3	Hypogonadotropic hypogonadism 9 with or without anosmia	614838	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 GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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* 608166. SEMAPHORIN 3E; SEMA3E
Cytogenetic location: 7q21.11, Genomic coordinates (GRCh38): 7:83,363,238-83,649,139
Matching terms: 608166
► Links

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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* 608892. CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7
Cytogenetic location: 8q12.2, Genomic coordinates (GRCh38): 8:60,678,740-60,868,028
Matching terms: 608892
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8q12.2	CHARGE syndrome	214800	AD	3
8q12.2	Hypogonadotropic hypogonadism 5 with or without anosmia	612370	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 OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 47535005

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10:

# 610628. HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4
Cytogenetic location: 3p13
Matching terms: 610628
► 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
3p13	Hypogonadotropic hypogonadism 4 with or without anosmia	610628	AD	3	PROK2	607002

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Hypogonadotropic hypogonadism with or without anosmia - PS147950 - 27 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.1	?Hypogonadotropic hypogonadism 27 without anosmia	AR	3	619755	NHLH2	162361
1q32.1	?Hypogonadotropic hypogonadism 13 with or without anosmia	AR	3	614842	KISS1	603286
2q14.3	{Hypogonadotropic hypogonadism 15 with or without anosmia}	AD	3	614880	HS6ST1	604846
3p14.3	Hypogonadotropic hypogonadism 18 with or without anosmia	AD, AR, DD	3	615267	IL17RD	606807
3p13	Hypogonadotropic hypogonadism 4 with or without anosmia	AD	3	610628	PROK2	607002
4q13.2	Hypogonadotropic hypogonadism 7 without anosmia	AR	3	146110	GNRHR	138850
4q24	Hypogonadotropic hypogonadism 11 with or without anosmia	AR	3	614840	TACR3	162332
4q27	Hypogonadotropic hypogonadism 25 with anosmia	AD	3	618841	NDNF	616506
5q31.3	Hypogonadotropic hypogonadism 17 with or without anosmia	AD	3	615266	SPRY4	607984
7q21.11	{Hypogonadotropic hypogonadism 16 with or without anosmia}	AD	3	614897	SEMA3A	603961
7q31.32	Hypogonadotropic hypogonadism 22, with or without anosmia	AR	3	616030	FEZF1	613301
8p21.3	Hypogonadotropic hypogonadism 20 with or without anosmia	AD	3	615270	FGF17	603725
8p21.2	?Hypogonadotropic hypogonadism 12 with or without anosmia	AR	3	614841	GNRH1	152760
8p11.23	Hypogonadotropic hypogonadism 2 with or without anosmia	AD	3	147950	FGFR1	136350
8q12.2	Hypogonadotropic hypogonadism 5 with or without anosmia	AD	3	612370	CHD7	608892
9q34.3	Hypogonadotropic hypogonadism 9 with or without anosmia	AD	3	614838	NSMF	608137
10q24.32	Hypogonadotropic hypogonadism 6 with or without anosmia	AD	3	612702	FGF8	600483
10q26.12	Hypogonadotropic hypogonadism 14 with or without anosmia	AD	3	614858	WDR11	606417
11p14.1	Hypogonadotropic hypogonadism 24 without anosmia	AR	3	229070	FSHB	136530
12q13.3	Hypogonadotropic hypogonadism 10 with or without anosmia	AR	3	614839	TAC3	162330
12q21.33	Hypogonadotropic hypogonadism 19 with or without anosmia	AD	3	615269	DUSP6	602748
15q21.3	Hypogonadotropic hypogonadism 26 with or without anosmia	AD, AR	3	619718	TCF12	600480
19p13.3	Hypogonadotropic hypogonadism 8 with or without anosmia	AR	3	614837	KISS1R	604161
19q13.33	Hypogonadotropic hypogonadism 23 with or without anosmia	AR	3	228300	LHB	152780
20p12.3	Hypogonadotropic hypogonadism 3 with or without anosmia	AD	3	244200	PROKR2	607123
20p12.1	Hypogonadotropic hypogonadism 21 with anosmia	AD	3	615271	FLRT3	604808
Xp22.31	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)	XLR	3	308700	ANOS1	300836

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Links
Testing GTR EuroGentest Normosmic congenital hypog… Kallmann syndrome	Clinical Resources Clinical Trials EuroGentest Normosmic congenital hypog… Kallmann syndrome Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Normosmic congenital hypog… Kallmann syndrome	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 432, 478 DO: 0090077

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Search: 109135 136350 138850 146110 147950 152760 162330 162332 244200 300836 308700 600483 602229 602748 603286 603725 603819 603961 604161 604808 604846 606417 606807 607002 607123 607984 608137 608166 608892 610628 612370 612702 613301 614366 614381 614837 614838 614839 614840 614841 614842 614858 614880 614897 615266 615267 615269 615270 615271 616030 616031 (Search in: MIM number)

Results: 51 entries.

* 109135. AXL RECEPTOR TYROSINE KINASE; AXL
Cytogenetic location: 19q13.2, Genomic coordinates (GRCh38): 19:41,219,223-41,261,766
Matching terms: 109135

* 603286. KISS1 METASTASIS SUPPRESSOR; KISS1
Cytogenetic location: 1q32.1, Genomic coordinates (GRCh38): 1:204,190,341-204,196,491
Matching terms: 603286

* 604808. FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 3; FLRT3
Cytogenetic location: 20p12.1, Genomic coordinates (GRCh38): 20:14,322,985-14,337,612
Matching terms: 604808

* 604846. HEPARAN SULFATE 6-O-SULFOTRANSFERASE 1; HS6ST1
Cytogenetic location: 2q14.3, Genomic coordinates (GRCh38): 2:128,265,480-128,318,868
Matching terms: 604846

* 300836. ANOSMIN 1; ANOS1
Cytogenetic location: Xp22.31, Genomic coordinates (GRCh38): X:8,528,874-8,732,137
Matching terms: 300836

* 607984. SPROUTY RTK SIGNALING ANTAGONIST 4; SPRY4
Cytogenetic location: 5q31.3, Genomic coordinates (GRCh38): 5:142,310,430-142,325,021
Matching terms: 607984

* 608137. NMDA RECEPTOR SYNAPTONUCLEAR SIGNALING AND NEURONAL MIGRATION FACTOR; NSMF
Cytogenetic location: 9q34.3, Genomic coordinates (GRCh38): 9:137,447,570-137,459,334
Matching terms: 608137

* 608166. SEMAPHORIN 3E; SEMA3E
Cytogenetic location: 7q21.11, Genomic coordinates (GRCh38): 7:83,363,238-83,649,139
Matching terms: 608166

* 608892. CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7
Cytogenetic location: 8q12.2, Genomic coordinates (GRCh38): 8:60,678,740-60,868,028
Matching terms: 608892

10:

# 610628. HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4
Cytogenetic location: 3p13
Matching terms: 610628

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