Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6469
Gene name	Sonic hedgehog signaling molecule
Gene symbol	SHH
Synonyms (NCBI Gene)	HHG1HLP3HPE3MCOPCB5SMMCIShhNCTPTTPTPS
Chromosome	7
Chromosome location	7q36.3
Summary	This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human protein

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28936675	C>T	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs104894040	A>C,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894042	A>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894043	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894044	G>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs104894045	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs104894046	C>A,T	Pathogenic	Missense variant, intron variant, coding sequence variant, stop gained
rs104894047	C>T	Likely-benign, benign, pathogenic	Missense variant, intron variant, coding sequence variant
rs104894048	G>C,T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894049	T>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894050	T>A	Pathogenic	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs104894051	C>A,G	Pathogenic	Missense variant, intron variant, coding sequence variant, stop gained
rs104894052	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894053	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs112055654	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs146990376	G>A,C	Pathogenic	Synonymous variant, non coding transcript variant, stop gained, coding sequence variant
rs191903572	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, intron variant
rs267607047	G>A,T	Pathogenic	Synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs397515375	GCGGCGGTGAGCAGCAGGCGC>-	Pathogenic	Inframe deletion, coding sequence variant, intron variant
rs397515376	GCGCGAAGG>-	Pathogenic	Inframe deletion, coding sequence variant, intron variant
rs587778786	CCCGCGGTCCCCGCC>-	Pathogenic	Coding sequence variant, intron variant, inframe deletion
rs587778788	->CAGC	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs587778789	GACGAGGA>-	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs587778792	C>G	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs587778799	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587778803	G>A,C	Pathogenic	Coding sequence variant, intron variant, stop gained, missense variant
rs587778805	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs587778806	G>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs753315599	C>A,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, stop gained, missense variant
rs763132615	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant
rs769920627	->GCC	Likely-pathogenic	Coding sequence variant, inframe insertion, intron variant
rs779093031	G>A,T	Pathogenic	Upstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant, stop gained
rs886042458	G>A,C	Likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant
rs1057518056	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057518660	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1085307689	C>A	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1131691966	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, intron variant
rs1131691989	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1420292012	G>A,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1554493607	G>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554493633	->C	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554493722	C>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1554493810	GAGCCCGAGGACGCCTCGGGCTC>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554495331	A>-	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1563198990	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1584800601	->TAGTG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584800607	GA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584805934	A>G	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1584806077	TC>-	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017061	hsa-miR-335-5p	Microarray	18185580
MIRT683052	hsa-miR-6887-3p	HITS-CLIP	23706177
MIRT683051	hsa-miR-7108-3p	HITS-CLIP	23706177
MIRT683050	hsa-miR-1471	HITS-CLIP	23706177
MIRT683049	hsa-miR-1292-3p	HITS-CLIP	23706177
MIRT683048	hsa-miR-1913	HITS-CLIP	23706177
MIRT683047	hsa-miR-324-3p	HITS-CLIP	23706177
MIRT683046	hsa-miR-4313	HITS-CLIP	23706177
MIRT683045	hsa-miR-6882-3p	HITS-CLIP	23706177
MIRT570527	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT570526	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT570525	hsa-miR-595	PAR-CLIP	20371350
MIRT570524	hsa-miR-4781-3p	PAR-CLIP	20371350
MIRT570523	hsa-miR-567	PAR-CLIP	20371350
MIRT570522	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT570521	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT570520	hsa-miR-297	PAR-CLIP	20371350
MIRT570519	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT570518	hsa-miR-147a	PAR-CLIP	20371350
MIRT683052	hsa-miR-6887-3p	HITS-CLIP	23706177
MIRT683051	hsa-miR-7108-3p	HITS-CLIP	23706177
MIRT683050	hsa-miR-1471	HITS-CLIP	23706177
MIRT683049	hsa-miR-1292-3p	HITS-CLIP	23706177
MIRT683048	hsa-miR-1913	HITS-CLIP	23706177
MIRT683047	hsa-miR-324-3p	HITS-CLIP	23706177
MIRT683046	hsa-miR-4313	HITS-CLIP	23706177
MIRT683045	hsa-miR-6882-3p	HITS-CLIP	23706177
MIRT570527	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT570526	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT570525	hsa-miR-595	PAR-CLIP	20371350
MIRT570524	hsa-miR-4781-3p	PAR-CLIP	20371350
MIRT570523	hsa-miR-567	PAR-CLIP	20371350
MIRT570522	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT570521	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT570520	hsa-miR-297	PAR-CLIP	20371350
MIRT570519	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT570518	hsa-miR-147a	PAR-CLIP	20371350
MIRT2102692	hsa-miR-4707-5p	CLIP-seq
MIRT2102693	hsa-miR-4749-3p	CLIP-seq
MIRT2102693	hsa-miR-4749-3p	CLIP-seq

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Transcription factor	Regulation	Reference
PAX3	Unknown	20569257
SOX9	Unknown	20569257
STAT3	Activation	22554932

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000139	Component	Golgi membrane	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	ISS
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS
GO:0001656	Process	Metanephros development	IEA
GO:0001656	Process	Metanephros development	ISS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	ISS
GO:0001708	Process	Cell fate specification	IBA
GO:0001708	Process	Cell fate specification	IEA
GO:0001708	Process	Cell fate specification	ISS
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001755	Process	Neural crest cell migration	ISS
GO:0001822	Process	Kidney development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IMP	14764698
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	IEA
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	ISS
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	NAS	17507406
GO:0004175	Function	Endopeptidase activity	TAS
GO:0005113	Function	Patched binding	IBA
GO:0005113	Function	Patched binding	IDA	8906787, 11472839
GO:0005113	Function	Patched binding	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	19561609
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	19561609, 29954986, 29995851, 30139912
GO:0005539	Function	Glycosaminoglycan binding	IEA
GO:0005576	Component	Extracellular region	IDA	24342078
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	19561609
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	18534984
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	18534984
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	IDA	31279575
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEP	17850284
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007389	Process	Pattern specification process	ISS
GO:0007398	Process	Ectoderm development	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007405	Process	Neuroblast proliferation	ISS
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0007418	Process	Ventral midline development	TAS	8896572, 11001584
GO:0007442	Process	Hindgut morphogenesis	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0008209	Process	Androgen metabolic process	IEA
GO:0008209	Process	Androgen metabolic process	ISS
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	ISS
GO:0008270	Function	Zinc ion binding	IDA	19561609
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	11331587
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0009880	Process	Embryonic pattern specification	TAS	11001584
GO:0009888	Process	Tissue development	IEA
GO:0009949	Process	Polarity specification of anterior/posterior axis	IEA
GO:0009949	Process	Polarity specification of anterior/posterior axis	ISS
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	ISS
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0010463	Process	Mesenchymal cell proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IBA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0014706	Process	Striated muscle tissue development	IEA
GO:0014856	Process	Skeletal muscle cell proliferation	IEA
GO:0014858	Process	Positive regulation of skeletal muscle cell proliferation	IEA
GO:0014902	Process	Myotube differentiation	IEA
GO:0016015	Function	Morphogen activity	NAS	8647801
GO:0016015	Function	Morphogen activity	TAS	24431302
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IEA
GO:0016539	Process	Intein-mediated protein splicing	IEA
GO:0016540	Process	Protein autoprocessing	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0021513	Process	Spinal cord dorsal/ventral patterning	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021794	Process	Thalamus development	IEA
GO:0021871	Process	Forebrain regionalization	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021924	Process	Cell proliferation in external granule layer	IEA
GO:0021930	Process	Cerebellar granule cell precursor proliferation	IEA
GO:0021930	Process	Cerebellar granule cell precursor proliferation	ISS
GO:0021940	Process	Positive regulation of cerebellar granule cell precursor proliferation	IEA
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0030162	Process	Regulation of proteolysis	IEA
GO:0030162	Process	Regulation of proteolysis	ISS
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030323	Process	Respiratory tube development	IEA
GO:0030324	Process	Lung development	IEA
GO:0030324	Process	Lung development	ISS
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	ISS
GO:0030336	Process	Negative regulation of cell migration	IEA
GO:0030336	Process	Negative regulation of cell migration	ISS
GO:0030539	Process	Male genitalia development	IEA
GO:0030539	Process	Male genitalia development	ISS
GO:0030850	Process	Prostate gland development	IEA
GO:0030850	Process	Prostate gland development	ISS
GO:0030878	Process	Thyroid gland development	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030900	Process	Forebrain development	ISS
GO:0030901	Process	Midbrain development	IEA
GO:0030901	Process	Midbrain development	ISS
GO:0030902	Process	Hindbrain development	IEA
GO:0030902	Process	Hindbrain development	ISS
GO:0031012	Component	Extracellular matrix	HDA	28344315
GO:0031012	Component	Extracellular matrix	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0033085	Process	Negative regulation of T cell differentiation in thymus	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	ISS
GO:0033092	Process	Positive regulation of immature T cell proliferation in thymus	IEA
GO:0033092	Process	Positive regulation of immature T cell proliferation in thymus	ISS
GO:0034244	Process	Negative regulation of transcription elongation by RNA polymerase II	IEA
GO:0034504	Process	Protein localization to nucleus	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035295	Process	Tube development	IEA
GO:0036484	Process	Trunk neural crest cell migration	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	ISS
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042476	Process	Odontogenesis	IEA
GO:0042481	Process	Regulation of odontogenesis	IEA
GO:0042481	Process	Regulation of odontogenesis	ISS
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	ISS
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043237	Function	Laminin-1 binding	IEA
GO:0043237	Function	Laminin-1 binding	ISS
GO:0043369	Process	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IDA	17227833
GO:0043369	Process	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IEA
GO:0043588	Process	Skin development	IEA
GO:0045059	Process	Positive thymic T cell selection	IEA
GO:0045059	Process	Positive thymic T cell selection	ISS
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0045060	Process	Negative thymic T cell selection	ISS
GO:0045109	Process	Intermediate filament organization	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045165	Process	Cell fate commitment	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045445	Process	Myoblast differentiation	IEA
GO:0045596	Process	Negative regulation of cell differentiation	ISS
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IDA	19561609, 24342078
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	10654605
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046632	Process	Alpha-beta T cell differentiation	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	ISS
GO:0046639	Process	Negative regulation of alpha-beta T cell differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048468	Process	Cell development	IEA
GO:0048468	Process	Cell development	IEA
GO:0048468	Process	Cell development	ISS
GO:0048513	Process	Animal organ development	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048538	Process	Thymus development	ISS
GO:0048546	Process	Digestive tract morphogenesis	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0048589	Process	Developmental growth	IEA
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	IEA
GO:0048643	Process	Positive regulation of skeletal muscle tissue development	IEA
GO:0048645	Process	Animal organ formation	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048663	Process	Neuron fate commitment	ISS
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IBA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0048745	Process	Smooth muscle tissue development	IEP	17850284
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	ISS
GO:0048839	Process	Inner ear development	IEA
GO:0048859	Process	Formation of anatomical boundary	IEA
GO:0048864	Process	Stem cell development	IEA
GO:0048864	Process	Stem cell development	ISS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050793	Process	Regulation of developmental process	IEA
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0051155	Process	Positive regulation of striated muscle cell differentiation	IEA
GO:0051781	Process	Positive regulation of cell division	IDA	11331587
GO:0060020	Process	Bergmann glial cell differentiation	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060173	Process	Limb development	IEA
GO:0060174	Process	Limb bud formation	IEA
GO:0060251	Process	Regulation of glial cell proliferation	IEA
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060428	Process	Lung epithelium development	IEA
GO:0060438	Process	Trachea development	IEA
GO:0060439	Process	Trachea morphogenesis	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060442	Process	Branching involved in prostate gland morphogenesis	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0060447	Process	Bud outgrowth involved in lung branching	IEA
GO:0060458	Process	Right lung development	IEA
GO:0060459	Process	Left lung development	IEA
GO:0060463	Process	Lung lobe morphogenesis	IEA
GO:0060484	Process	Lung-associated mesenchyme development	IEA
GO:0060516	Process	Primary prostatic bud elongation	IEA
GO:0060523	Process	Prostate epithelial cord elongation	IEA
GO:0060662	Process	Salivary gland cavitation	IEA
GO:0060664	Process	Epithelial cell proliferation involved in salivary gland morphogenesis	IEA
GO:0060684	Process	Epithelial-mesenchymal cell signaling	IDA	12221011
GO:0060684	Process	Epithelial-mesenchymal cell signaling	IEA
GO:0060685	Process	Regulation of prostatic bud formation	IEA
GO:0060738	Process	Epithelial-mesenchymal signaling involved in prostate gland development	IEA
GO:0060767	Process	Epithelial cell proliferation involved in prostate gland development	IEA
GO:0060768	Process	Regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0060769	Process	Positive regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0060782	Process	Regulation of mesenchymal cell proliferation involved in prostate gland development	IEA
GO:0060783	Process	Mesenchymal smoothened signaling pathway involved in prostate gland development	IEA
GO:0060840	Process	Artery development	IEA
GO:0060916	Process	Mesenchymal cell proliferation involved in lung development	IEA
GO:0061053	Process	Somite development	IEA
GO:0061053	Process	Somite development	ISS
GO:0061189	Process	Positive regulation of sclerotome development	IDA	10654605
GO:0071285	Process	Cellular response to lithium ion	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	TAS	24431302
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072091	Process	Regulation of stem cell proliferation	IEA
GO:0072136	Process	Metanephric mesenchymal cell proliferation involved in metanephros development	IEA
GO:0072136	Process	Metanephric mesenchymal cell proliferation involved in metanephros development	ISS
GO:0072205	Process	Metanephric collecting duct development	IEP	17850284
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090162	Process	Establishment of epithelial cell polarity	IEA
GO:0090370	Process	Negative regulation of cholesterol efflux	IEA
GO:0090370	Process	Negative regulation of cholesterol efflux	ISS
GO:0097152	Process	Mesenchymal cell apoptotic process	IEA
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0097190	Process	Apoptotic signaling pathway	ISS
GO:0097264	Process	Self proteolysis	IEA
GO:0097264	Process	Self proteolysis	ISS
GO:0098528	Process	Skeletal muscle fiber differentiation	IEA
GO:0140853	Function	Cholesterol-protein transferase activity	IEA
GO:0140853	Function	Cholesterol-protein transferase activity	ISS
GO:1900107	Process	Regulation of nodal signaling pathway	NAS	17507406
GO:1900180	Process	Regulation of protein localization to nucleus	IDA	11331587
GO:1904339	Process	Negative regulation of dopaminergic neuron differentiation	IEA
GO:1905327	Process	Tracheoesophageal septum formation	IEA
GO:2000062	Process	Negative regulation of ureter smooth muscle cell differentiation	IEA
GO:2000062	Process	Negative regulation of ureter smooth muscle cell differentiation	ISS
GO:2000063	Process	Positive regulation of ureter smooth muscle cell differentiation	IEA
GO:2000063	Process	Positive regulation of ureter smooth muscle cell differentiation	ISS
GO:2000357	Process	Negative regulation of kidney smooth muscle cell differentiation	IEA
GO:2000357	Process	Negative regulation of kidney smooth muscle cell differentiation	ISS
GO:2000358	Process	Positive regulation of kidney smooth muscle cell differentiation	IEA
GO:2000358	Process	Positive regulation of kidney smooth muscle cell differentiation	ISS
GO:2000729	Process	Positive regulation of mesenchymal cell proliferation involved in ureter development	IEA
GO:2000729	Process	Positive regulation of mesenchymal cell proliferation involved in ureter development	ISS
GO:2001054	Process	Negative regulation of mesenchymal cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
600725	10848	ENSG00000164690

Q15465

Protein name

Sonic hedgehog protein (SHH) (EC 3.1.-.-) (HHG-1) (Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains) (ShhNC) [Cleaved into: Sonic hedgehog protein N-product (ShhN) (Shh N-terminal processed signaling domains) (ShhNp)]

Protein function

[Sonic hedgehog protein]: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two

PDB

3HO5 , 3M1N , 3MXW , 6DMY , 6E1H , 6N7G , 6N7H , 6N7K , 6OEV , 6PJV , 6RMG , 6RVD , 7E2I , 7MHZ , 7RHQ , 7URF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01085	HH_signal	24 → 184	Hedgehog amino-terminal signalling domain	Domain
PF01079	Hint	187 → 448	Hint module	Family

Sequence

MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASG
RYEGKISRNSERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGV
KLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVEAGFDWVYYESKAH
IHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLT
FLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEASSGSGPPSGGALG
PRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSEEAAGAYAPLTAQGTILINRVL
ASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRGGGGGRVALTAPGA
ADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS

Sequence length

462

Interactions

View interactions

	KEGG		Reactome
	Hedgehog signaling pathway Axon guidance Pathways in cancer Proteoglycans in cancer Basal cell carcinoma Gastric cancer		Hedgehog ligand biogenesis Hh mutants that don't undergo autocatalytic processing are degraded by ERAD Release of Hh-Np from the secreting cell Ligand-receptor interactions Activation of SMO HHAT G278V abrogates palmitoylation of Hh-Np

425

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism	Likely pathogenic	rs777486607	RCV002466306
Developmental and epileptic encephalopathy, 11	Pathogenic	rs779093031	RCV005863241
Holoprosencephaly 3	Likely pathogenic; Pathogenic	rs2117128881, rs28936675, rs104894044, rs104894045, rs104894040, rs104894042, rs397515375, rs104894046, rs104894048, rs397515376, rs104894050, rs104894051, rs104894053, rs267607047, rs886042458 View all (27 more)	RCV002035686 RCV000009427 RCV000009428 RCV000009429 RCV000009430 RCV000009431 RCV000009432 RCV000009434 RCV000009435 RCV000009438 RCV000009439 RCV000009441 RCV000009443 RCV000009445 RCV000009447 RCV005252855 RCV003324622 RCV003447672 RCV003985191 RCV003990052 RCV004594782 RCV004594786 RCV000415165 RCV005252889 RCV000551543 RCV000585808 RCV000656536 RCV000656532 RCV000656537 RCV000656539 RCV000801241 RCV000807431 RCV000850368 RCV000056089 RCV000056094 RCV000056099 RCV000056105 RCV000056117 RCV000056121 RCV000056128 RCV000056132 RCV000056137 RCV003509644 RCV001254168
Microphthalmia, isolated, with coloboma 5	Likely pathogenic	rs753315599	RCV000824859
Partial agenesis of the corpus callosum	Pathogenic	rs868096125	RCV001788515
Schizencephaly	Pathogenic	rs760920236, rs1803267843	RCV003455850 RCV001197811
See cases	Pathogenic	rs2535891899, rs2535891336	RCV003889296 RCV003889297
Septo-optic dysplasia sequence	Pathogenic	rs2535900806	RCV002293592
SHH-related disorder	Likely pathogenic; Pathogenic	rs1131691989, rs1057518660, rs886042458	RCV004554093 RCV005863134 RCV003117460
Solitary median maxillary central incisor syndrome	Pathogenic; Likely pathogenic	rs104894049, rs104894052, rs104894053, rs1131691989, rs2535893958, rs886042458	RCV000009440 RCV000009444 RCV000009446 RCV005254787 RCV005254894 RCV005252928 RCV005253028

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acrocallosal syndrome	Uncertain significance	rs1554493617	RCV000611237
Holoprosencephaly sequence	Uncertain significance	rs1554494372	RCV000656429
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Conflicting classifications of pathogenicity	rs104894043	RCV001813967
Obesity	Uncertain significance	rs1265911355	RCV005626771

Show/Hide Text Mining Associations (253)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	21059263
Abortion Habitual	Associate	33390589
Absence of Tibia	Associate	37626311
Acrocallosal Syndrome	Associate	31399769
Acropectoral syndrome	Associate	11333865
Adenocarcinoma	Associate	16810741
Adenoma Liver Cell	Associate	27939373
Adenoma Pleomorphic	Associate	26790448
Agenesis of Cerebellar Vermis	Associate	28965847
Airway Obstruction	Associate	34915763
Ameloblastoma	Associate	27386018, 35863182
Aneurysm	Inhibit	24768363
Aniridia	Associate	35551459
Anorexia	Associate	29778738
Arthritis Rheumatoid	Associate	24741597, 26189371, 32670287, 35785032
Astrocytoma	Associate	21059263
Ataxia Telangiectasia	Associate	30679601
Atherosclerosis	Associate	32186749
ATR X syndrome	Associate	30729724
Atrophy	Associate	14691301
Attention Deficit Disorder with Hyperactivity	Associate	11919111
Basal Cell Nevus Syndrome	Associate	10554356, 29088246, 29230040, 33893086
Bipolar Disorder	Associate	27759212
Blood Platelet Disorders	Associate	20526338
Bone Marrow Diseases	Associate	34905501
Brain Diseases	Associate	27453577, 31639285
Brain Neoplasms	Associate	20830616, 26286140, 26563370, 28228863
Breast Neoplasms	Associate	12115313, 18507014, 20180807, 20830616, 21372638, 22235097, 22615870, 25889650, 25915429, 25990213, 26563370, 26586670, 26727947, 28739739, 29734730 View all (4 more)
Breast Neoplasms	Stimulate	16855373
Buschke Lowenstein Tumor	Inhibit	36704875
Calcifying Epithelial Odontogenic Tumor	Associate	36287504
Calcinosis Cutis	Stimulate	16507112
Calcinosis Cutis	Associate	33737307
Capillary Malformation Arteriovenous Malformation	Associate	24742993
Carcinogenesis	Associate	16528374, 16810741, 17209848, 18776995, 22995914, 25141859, 27039174, 27918595, 31538424, 35266008, 35505292
Carcinogenesis	Stimulate	25740074
Carcinoma Adenoid Cystic	Inhibit	26790448
Carcinoma Basal Cell	Associate	15175043, 15675968, 23284750, 24203628, 26578727, 29776351, 31756206, 33994358, 35505292, 36014865, 37597490
Carcinoma Hepatocellular	Associate	18776995, 22543708, 24712101, 25740074, 29722127, 31406102, 32496832, 35768071, 36348351, 37884351
Carcinoma Mucoepidermoid	Associate	26790448
Carcinoma Neuroendocrine	Associate	17102592
Carcinoma Non Small Cell Lung	Associate	21249152, 25141859
Carcinoma Non Small Cell Lung	Stimulate	24710823, 26297432
Carcinoma Pancreatic Ductal	Associate	25176061
Carcinoma Pancreatic Ductal	Stimulate	31072042
Carcinoma Renal Cell	Stimulate	35266008
Carcinoma Renal Cell	Associate	37240278, 37964226
Carcinoma Squamous Cell	Associate	16810741, 24758269, 31221127, 35505292
Cartilage Diseases	Associate	35313742
Cataract	Associate	35749127
Cell Transformation Neoplastic	Associate	24305714
Cell Transformation Neoplastic	Stimulate	35397562
Central Nervous System Infections	Associate	27825128
Central Nervous System Neoplasms	Associate	29428974
Central Nervous System Vascular Malformations	Associate	22310223
Cerebellar Diseases	Associate	12115313
Cholangiocarcinoma	Associate	25740074, 36423790
Cholecystitis	Inhibit	40221697
Cholestasis	Associate	31201503
Cholesteatoma	Associate	36837507
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	26222673, 38191555
Colonic Neoplasms	Associate	17461467
Colorectal Neoplasms	Associate	17461467, 22901214, 27458094, 30363662, 31795147, 36797277, 37597490
Colorectal Neoplasms	Stimulate	25740074, 30539521
Condylomata Acuminata	Associate	36704875
Craniopharyngioma	Associate	25990246, 26927026, 27562488
Currarino triad	Associate	8933345
Cyclic neutropenia	Associate	29778738
Death	Associate	29778738
Dental Caries	Associate	36981009
Developmental Disabilities	Associate	28965847, 29061174, 29492654, 36874970
Diabetes Mellitus	Inhibit	19629560
Drug Related Side Effects and Adverse Reactions	Associate	32496832
Dysgnathia complex	Associate	32100971
Edema	Associate	39586576
Endometrial Stromal Tumors	Associate	33077922
Endometriosis	Associate	29980254
Ependymoma	Associate	28228863
Epilepsies Partial	Associate	27453577
Epilepsy	Associate	36498832
Familial schizencephaly	Associate	20157829
Fatty Liver	Associate	30744560
Fatty Liver	Inhibit	31087761
Fatty Liver Alcoholic	Associate	22641094, 30744560
Febrile Neutropenia	Associate	29778738
Fibroma	Associate	27101025
Fibroma Desmoplastic	Associate	21325292
Fibrosis	Associate	23922933, 30744560, 33418093
Forebrain Defects	Associate	20157829
Friedreich Ataxia	Associate	35413853
Gallbladder Diseases	Associate	26111189
Gastritis	Associate	30703170
Gastritis Atrophic	Inhibit	14691301
Gastritis Atrophic	Associate	17209848
Gastroesophageal Reflux	Associate	39401779
Gastrointestinal Stromal Tumors	Associate	17007023
Glioblastoma	Associate	20830616, 23482671, 25595187, 25604826, 26299938, 27819521, 32504326, 34984467, 37407723, 37918288
Glioma	Associate	20957337, 27002148, 27662839, 27697090, 28446712, 32256960, 34747078
Glucosephosphate Dehydrogenase Deficiency	Stimulate	28522681
Gonadal Dysgenesis	Associate	25927242
Gonadal Dysgenesis 46 XY	Associate	25927242
Head and Neck Neoplasms	Associate	27553089, 27918595
Heart Diseases	Associate	33218365
Hemorrhage	Associate	27939373
Hemorrhagic Fever American	Associate	39847453
Hepatitis B	Stimulate	28739739
Hereditary Breast and Ovarian Cancer Syndrome	Associate	20180807, 28739739
Heterotaxy Syndrome	Associate	26111189
Hodgkin Disease	Associate	21385932
Holoprosencephaly	Associate	10594002, 11919111, 16199538, 19346217, 19431187, 19603532, 20157829, 20531442, 21842183, 21940735, 21976454, 21995818, 22310223, 23276570, 26748417 View all (6 more)
Hyperplasia	Associate	26189371
Hypertrichosis	Associate	25782671
Hypothalamic hamartomas	Associate	27453577, 35137044
Hypoxia	Stimulate	21338440, 28522681, 36423790
Hypoxia	Associate	33418093
Idiopathic Pulmonary Fibrosis	Associate	23023967, 27869174
Idiopathic Pulmonary Fibrosis	Stimulate	29477141
Infections	Associate	29778738, 30703170
Inflammation	Stimulate	15502857
Inflammation	Associate	19862523, 36725745
Inflammatory Breast Neoplasms	Associate	21505458
Intellectual Disability	Associate	23091001, 30729724
Intervertebral Disc Degeneration	Associate	37979732
Intestinal Diseases	Inhibit	12377798
Intestinal Diseases	Associate	17209848
Intestinal Neoplasms	Associate	17007023
Joint Diseases	Associate	26189371
Kashin Beck Disease	Associate	35313742
Left sided gallbladder	Associate	29089047
Leiomyoma	Associate	17007023
Leukemia	Associate	22240607
Leukemia Erythroblastic Acute	Associate	24740159
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	21235817
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	22240607, 33707419
Liver Neoplasms	Associate	25740074
Long QT Syndrome	Associate	31347270
Lujan Fryns syndrome	Associate	23091001, 30729724
Lung agenesis	Associate	34436670
Lung Diseases	Associate	21039988, 28522681
Lung Diseases Interstitial	Associate	21039988
Lung Neoplasms	Associate	29115573, 31538424, 33291316
Lymphatic Metastasis	Stimulate	21861243, 25060182, 28886265
Lymphatic Metastasis	Associate	24710823, 30361899
Lymphoma B Cell Marginal Zone	Associate	18492102
Lymphoma Large B Cell Diffuse	Associate	19593328, 21625222
Meckel syndrome type 1	Associate	34981460
Medulloblastoma	Associate	17039417, 18068533, 19966297, 20480407, 20823417, 20830616, 21059263, 21267586, 21325292, 21681522, 22134537, 22212915, 22358458, 22411914, 22808009 View all (67 more)
Medulloblastoma	Stimulate	28561706, 39847453
Megalencephaly	Associate	31639285
Meningioma	Associate	37805627
Mohr Tranebjaerg syndrome	Stimulate	33125122
Mouth Diseases	Associate	36498832
Mouth Neoplasms	Associate	28886265
Myelodysplastic Syndromes	Associate	34314648
Myocardial Stunning	Associate	19629560
Myotonic Dystrophy	Associate	19629560
Neoplasm Invasiveness	Associate	21861243, 32691230
Neoplasm Metastasis	Associate	21796625, 22543708, 23482671, 24758269, 25060182, 29329585, 30361899, 30833799, 33966040
Neoplasm Metastasis	Stimulate	25197388, 28739739
Neoplasms	Stimulate	15314219, 16528374, 16778829, 24712101, 29329585, 33966040
Neoplasms	Associate	15482598, 15675968, 17007023, 17209848, 20830616, 20957337, 21059263, 21796625, 22087285, 22235097, 22240607, 22901214, 23029396, 23762282, 23922933 View all (60 more)
Neoplasms	Inhibit	26694869
Neoplasms Germ Cell and Embryonal	Associate	38430549
Neoplasms Glandular and Epithelial	Associate	15502857
Nervous System Diseases	Associate	25927242
Nervous System Neoplasms	Associate	19622100
Neurilemmoma	Associate	17007023
Neuroblastoma	Associate	19622100, 20830616
Neurodegenerative Diseases	Associate	30679601
Neuroectodermal Tumors	Associate	20480407
Neuroectodermal Tumors Primitive	Associate	20480407
Neuroma	Stimulate	39362479
Neutropenia	Associate	29778738
Non alcoholic Fatty Liver Disease	Associate	30653341, 30744560
Non alcoholic Fatty Liver Disease	Inhibit	31087761
Non Muscle Invasive Bladder Neoplasms	Associate	20858759
Non Muscle Invasive Bladder Neoplasms	Stimulate	22361633
Obesity	Associate	28207535
Oculocutaneous albinism type 2	Associate	29778738
Odontogenic Tumors	Associate	22679015
Oligodendroglioma	Associate	23474492, 37533228
Opitz Kaveggia syndrome	Associate	23091001, 30729724
Orofacial Cleft 1	Associate	34061439
Orofaciodigital syndrome type1	Associate	33825116
Osteoarthritis	Associate	35313742
Osteosarcoma	Associate	29203762, 29864766
Ovarian Neoplasms	Stimulate	19028702
Ovarian Neoplasms	Associate	24848881, 27737724
Pancreatic Neoplasms	Associate	19862523, 20215540, 21796625, 22087285, 22125638, 22995914, 23029396, 23056513, 25072505, 25176061, 26689865, 26815504, 30272371
Pancreatic Neoplasms	Stimulate	30539521
Pancreatitis	Associate	21796625, 23029396, 30272371
Parkinson Disease	Associate	37996418
Patterson Stevenson syndrome	Associate	28035386, 33218365, 39273297
Periventricular Nodular Heterotopia	Associate	12377798
Persistent Fetal Circulation Syndrome	Associate	34315444
Pleural Diseases	Associate	25141859
Polydactyly	Associate	31115189
Polydactyly preaxial type 1	Associate	11333865, 25782671, 28690477
Polyneuropathies	Associate	25927242
Pre Eclampsia	Associate	33026915
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	23379653
Primary Myelofibrosis	Associate	34905501
Prostatic Neoplasms	Associate	15314219, 15482598, 16507112, 20333644, 25674212, 35805202
Prostatic Neoplasms	Stimulate	32867229
Prostatitis	Associate	15314219, 16507112
Prostatitis	Stimulate	21707705
Pulmonary Arterial Hypertension	Associate	28522681
Pyruvate Carboxylase Deficiency Disease	Associate	25072505
Renal Hypodysplasia Nonsyndromic 1	Associate	21940735
Retinal Dysplasia	Stimulate	16528374
Retinal Dystrophies	Associate	18252212
Rhabdomyosarcoma	Associate	29230040
Rhabdomyosarcoma Embryonal	Associate	29230040
Rheumatic Fever	Associate	32670287
Salivary Gland Neoplasms	Associate	26790448
Sarcoma	Associate	33077922
Schizophrenia	Associate	29492654
Seminoma	Associate	25927242
Septo Optic Dysplasia	Associate	35885948
Sertoli Leydig Cell Tumor	Stimulate	17177833
Skin Diseases	Associate	24203628
Skin Neoplasms	Associate	15140221
Small Cell Lung Carcinoma	Associate	31538424
Smith Lemli Opitz Syndrome	Associate	24742993
Spongiform Encephalopathy with Neuropsychiatric Features	Associate	30729724
Squamous Cell Carcinoma of Head and Neck	Associate	26768620, 27553089, 27918595, 28886265, 29507910, 31744214, 33418093
Sternal cleft	Associate	11333865
Stomach Diseases	Associate	12377798
Stomach Neoplasms	Associate	14691301, 16528374, 16810741, 17209848, 19930158, 20087349, 22799764, 25197388, 26057149, 27039174, 28621241, 30685841, 33811245, 36346167, 36510975
Tachycardia Atrioventricular Nodal Reentry	Stimulate	28739739
Tachycardia Atrioventricular Nodal Reentry	Associate	29329585
Takotsubo Cardiomyopathy	Associate	30744560
Thromboembolism	Associate	25141859
Thymoma	Associate	16302728
Thyroid cancer medullary	Associate	23410206
Thyroid Cancer Papillary	Associate	25060182
Thyroid Carcinoma Anaplastic	Associate	25078145
Thyroid Neoplasms	Associate	33966040, 34956562
Thyroiditis	Associate	25078145
Tooth Supernumerary	Stimulate	35397562
Tourette Syndrome	Associate	36447010
Tracheomalacia	Associate	34436670
Triple Negative Breast Neoplasms	Associate	26727947, 26963129, 31545492
Trisomy 18 Syndrome	Associate	24742993
Typical Teratoid Rhabdoid Tumor	Associate	27380723, 29230040, 29428974, 31883020, 33737307, 33938067
Ulnar Neuropathies	Associate	39630792
Ureteral Neoplasms	Associate	28928250
Urinary Bladder Neoplasms	Associate	20858759, 21861243, 30361899, 35167374
Urinary Bladder Neoplasms	Stimulate	22361633
Uterine Cervical Neoplasms	Associate	22028038
Venous Thromboembolism	Associate	37918288
Vomiting	Associate	29778738
Warts	Associate	36704875

SHH (sonic hedgehog signaling molecule)