Shh (sonic hedgehog) - Rat Genome Database

Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: Shh (sonic hedgehog) Mus musculus
Symbol: Shh
Name: sonic hedgehog
RGD ID: 736830
Description: Enables several functions, including cholesterol-protein transferase activity; laminin-1 binding activity; and patched binding activity. Involved in several processes, including hemopoiesis; positive regulation of T cell activation; and regulation of smooth muscle cell differentiation. Acts upstream of or within several processes, including nervous system development; respiratory system development; and tube morphogenesis. Located in several cellular components, including cell surface; extracellular space; and membrane raft. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study brachydactyly type A1 and holoprosencephaly 3. Human ortholog(s) of this gene implicated in several diseases, including Hirschsprung's disease; holoprosencephaly (multiple); hypoplastic or aplastic tibia with polydactyly; middle cerebral artery infarction; and polydactyly. Orthologous to human SHH (sonic hedgehog signaling molecule).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 9530036O11Rik; Dsh; hemimelic extra toes; HHG-1; Hhg1; Hx; Hxl3; M100081; shh unprocessed N-terminal signaling and C-terminal autoprocessing domains; ShhNC; short digits; sonic hedgehog protein
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm39528,661,838 - 28,672,099 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl528,661,813 - 28,672,254 (-)EnsemblGRCm39 Ensembl
GRCm38528,456,840 - 28,467,101 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl528,456,815 - 28,467,256 (-)EnsemblGRCm38mm10GRCm38
MGSCv37528,783,380 - 28,793,641 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36528,787,627 - 28,797,875 (-)NCBIMGSCv36mm8
Celera525,997,895 - 26,008,156 (-)NCBICelera
Cytogenetic Map5B1NCBI
cM Map514.39NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
acrocallosal syndrome  (ISO)
Anorectal Malformations  (ISO)
atrioventricular septal defect  (IMP)
autism spectrum disorder  (ISO)
autistic disorder  (ISO)
basal cell carcinoma  (ISO)
biliary atresia  (ISO)
brachydactyly type A1  (IEP)
chronic kidney disease  (IEP,ISO)
cleft palate  (IGI)
colorectal cancer  (ISO)
Congenital Limb Deformities  (IMP)
demyelinating disease  (IEP)
esophageal atresia/tracheoesophageal fistula  (ISO)
Experimental Arthritis  (ISO)
Experimental Autoimmune Encephalomyelitis  (IEP,ISO)
Eye Abnormalities  (ISO)
Facial Dysmorphism with Multiple Malformations  (ISO)
Failure to Thrive  (ISO)
Fluoride Poisoning  (ISO)
focal segmental glomerulosclerosis  (ISO)
gastrointestinal stromal tumor  (ISO)
genetic disease  (ISO)
hepatocellular carcinoma  (ISO)
Hirschsprung's disease  (ISO)
holoprosencephaly  (IEP,ISO)
holoprosencephaly 3  (IAGP,ISO)
Hyperoxic Lung Injury  (ISO)
hypoplastic or aplastic tibia with polydactyly  (ISO)
hypothyroidism  (ISO)
IgA glomerulonephritis  (ISO)
Isolated Microphthalmia with Coloboma 5  (ISO)
Kidney Reperfusion Injury  (IEP)
membranous glomerulonephritis  (ISO)
microphthalmia  (ISO)
middle cerebral artery infarction  (ISO)
multiple sclerosis  (ISO)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (ISO)
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies  (ISO)
nevoid basal cell carcinoma syndrome  (IMP)
ocular hypertension  (ISO)
pancreatic cancer  (ISO)
Parkinsonism  (ISO)
Partial Agenesis of Corpus Callosum  (ISO)
Patterson Stevenson Syndrome  (ISO)
Peripheral Nerve Injuries  (ISO)
Persistent Cloaca  (IMP,ISO)
polydactyly  (IEP,ISO)
pre-malignant neoplasm  (ISO)
Preaxial Polydactyly II  (ISO)
primary progressive multiple sclerosis  (ISO)
Schizencephaly  (ISO)
secondary Parkinson disease  (ISO)
septooptic dysplasia  (ISO)
solitary median maxillary central incisor  (ISO)
Spinal Cord Injuries  (ISO)
stomach cancer  (ISO)
Subarachnoid Hemorrhage  (ISO)
syndactyly type 4  (ISO)
temporal lobe epilepsy  (ISO)
ureteral obstruction  (IEP)
VACTERL association  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
1,1-dichloroethene  (EXP)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (EXP)
5-fluorouracil  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
Ac-Ser-Asp-Lys-Pro-OH  (ISO)
actinomycin D  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP)
ammonium chloride  (ISO)
apomorphine  (ISO)
Aroclor 1254  (EXP)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzylpenicillin  (EXP)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
captopril  (ISO)
carbon nanotube  (EXP)
chloroprene  (EXP)
chromium(6+)  (EXP,ISO)
cisplatin  (ISO)
curcumin  (ISO)
Cyclopamine  (EXP,ISO)
D-glucose  (EXP,ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
ethanol  (EXP)
Ethylenethiourea  (ISO)
flavonoids  (ISO)
folic acid  (EXP,ISO)
gemcitabine  (ISO)
genistein  (EXP)
glucose  (EXP,ISO)
goralatide  (ISO)
hydrogen peroxide  (ISO)
ipriflavone  (EXP,ISO)
isotretinoin  (ISO)
lansoprazole  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
lithium chloride  (EXP)
melittin  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
N-ethyl-N-nitrosourea  (EXP)
nitrofen  (ISO)
Nor-9-carboxy-delta9-THC  (ISO)
ochratoxin A  (ISO)
oxidopamine  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenytoin  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
progesterone  (ISO)
quercetin  (ISO)
quercetin 3-O-beta-D-galactopyranoside  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (ISO)
saccharin  (EXP)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
testosterone  (ISO)
tetrachloromethane  (EXP)
tetramethylpyrazine  (EXP)
thyroxine  (ISO)
titanium dioxide  (EXP)
tofacitinib  (ISO)
tolnaftate  (EXP,ISO)
trans-piceid  (EXP)
triadimefon  (ISO)
triptonide  (ISO)
udenafil  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (EXP)
vismodegib  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
alpha-beta T cell differentiation  (IMP)
anatomical structure formation involved in morphogenesis  (IMP)
androgen metabolic process  (IMP)
angiogenesis  (IDA,IGI,IMP)
animal organ formation  (IMP)
anterior/posterior pattern specification  (IMP)
apoptotic signaling pathway  (IDA)
artery development  (IGI,IMP)
astrocyte differentiation  (IMP)
axon guidance  (IDA,IMP)
Bergmann glial cell differentiation  (IDA)
blood coagulation  (IMP)
branching involved in blood vessel morphogenesis  (IMP)
branching involved in prostate gland morphogenesis  (IDA)
branching involved in salivary gland morphogenesis  (IGI,IMP)
branching involved in ureteric bud morphogenesis  (IMP)
branching morphogenesis of an epithelial tube  (IMP)
bud outgrowth involved in lung branching  (IMP)
camera-type eye development  (IDA,IGI,IMP)
canonical Wnt signaling pathway  (IMP)
CD4-positive or CD8-positive, alpha-beta T cell lineage commitment  (IMP,ISO)
cell development  (IMP)
cell fate commitment  (IGI)
cell fate specification  (IDA,IGI,IMP)
cell migration  (IDA)
cell population proliferation  (IGI,IMP)
cell proliferation in external granule layer  (IDA)
cell-cell signaling  (IMP)
cellular response to lithium ion  (IDA)
central nervous system development  (IMP)
cerebellar granule cell precursor proliferation  (IDA,IGI)
commissural neuron axon guidance  (ISO)
determination of left/right asymmetry in lateral mesoderm  (IMP)
determination of left/right symmetry  (IMP)
developmental growth  (IMP)
digestive tract mesoderm development  (ISO)
digestive tract morphogenesis  (IMP)
dopaminergic neuron differentiation  (TAS)
dorsal/ventral neural tube patterning  (IDA,IGI,IMP)
dorsal/ventral pattern formation  (IGI)
ectoderm development  (IMP)
embryonic digestive tract morphogenesis  (IMP,TAS)
embryonic digit morphogenesis  (IGI,IMP)
embryonic foregut morphogenesis  (IMP)
embryonic forelimb morphogenesis  (IMP)
embryonic hindlimb morphogenesis  (IMP)
embryonic limb morphogenesis  (IGI,IMP)
embryonic morphogenesis  (IMP)
embryonic organ development  (IMP)
embryonic skeletal system development  (IGI)
endocytosis  (IDA)
epithelial cell proliferation  (IGI,IMP)
epithelial cell proliferation involved in prostate gland development  (IMP)
epithelial cell proliferation involved in salivary gland morphogenesis  (IMP)
epithelial tube branching involved in lung morphogenesis  (IMP,ISO)
epithelial-mesenchymal cell signaling  (IMP)
epithelial-mesenchymal signaling involved in prostate gland development  (IGI)
establishment of epithelial cell polarity  (IDA)
forebrain development  (IGI)
forebrain regionalization  (IMP)
formation of anatomical boundary  (IMP)
fungiform papilla development  (ISO)
fungiform papilla formation  (ISO)
fungiform papilla morphogenesis  (ISO)
gene expression  (IDA,IMP)
hair follicle development  (IMP)
hair follicle morphogenesis  (IMP)
heart development  (IMP)
heart looping  (IMP)
hindbrain development  (IGI,IMP)
hindgut morphogenesis  (IMP)
inner ear development  (IGI,IMP)
intein-mediated protein splicing  (IEA)
intermediate filament organization  (IMP)
kidney development  (IMP)
left lung development  (IMP)
limb bud formation  (IMP)
limb development  (IGI,IMP)
liver regeneration  (ISO)
lung development  (IGI,IMP)
lung epithelium development  (IMP)
lung lobe morphogenesis  (IMP)
lung morphogenesis  (IMP)
lung-associated mesenchyme development  (IMP)
lymphoid progenitor cell differentiation  (IMP,ISO)
male genitalia development  (IMP)
male genitalia morphogenesis  (ISO)
mesenchymal cell apoptotic process  (IMP)
mesenchymal cell proliferation  (IMP)
mesenchymal cell proliferation involved in lung development  (IDA)
mesenchymal smoothened signaling pathway involved in prostate gland development  (IMP)
mesenchymal-epithelial cell signaling involved in prostate gland development  (ISO)
metanephric collecting duct development  (ISO)
metanephric mesenchymal cell proliferation involved in metanephros development  (IMP)
metanephros development  (IMP)
midbrain development  (IGI)
myoblast differentiation  (IDA)
myotube differentiation  (IMP)
negative regulation of alpha-beta T cell differentiation  (IMP)
negative regulation of apoptotic process  (IDA,IGI,IMP,ISO)
negative regulation of canonical Wnt signaling pathway  (IMP)
negative regulation of cell migration  (IDA)
negative regulation of cellular process  (ISO)
negative regulation of cholesterol efflux  (IMP)
negative regulation of dopaminergic neuron differentiation  (IMP)
negative regulation of gene expression  (IMP)
negative regulation of kidney smooth muscle cell differentiation  (IDA)
negative regulation of mesenchymal cell apoptotic process  (IMP)
negative regulation of neuron differentiation  (IDA,IMP)
negative regulation of proteasomal ubiquitin-dependent protein catabolic process  (IMP)
negative regulation of protein catabolic process  (IMP)
negative regulation of T cell differentiation in thymus  (IMP)
negative regulation of T cell proliferation  (IMP)
negative regulation of transcription by RNA polymerase II  (IDA,IMP)
negative regulation of transcription elongation by RNA polymerase II  (IDA)
negative regulation of ureter smooth muscle cell differentiation  (IDA)
negative regulation of Wnt signaling pathway  (IDA)
negative thymic T cell selection  (IMP)
neural crest cell migration  (IMP)
neural tube formation  (ISO)
neuroblast proliferation  (IDA,IMP)
neuron differentiation  (IDA,IMP)
neuron fate commitment  (IMP)
odontogenesis  (IDA)
odontogenesis of dentin-containing tooth  (IMP)
oligodendrocyte development  (IDA)
oligodendrocyte differentiation  (IGI)
osteoblast development  (IDA)
pancreas development  (IGI,IMP)
pattern specification process  (IGI,IMP)
polarity specification of anterior/posterior axis  (IMP)
positive regulation of alpha-beta T cell differentiation  (IMP)
positive regulation of astrocyte differentiation  (IMP)
positive regulation of cell division  (ISO)
positive regulation of cell population proliferation  (IDA,IGI,IMP,ISO)
positive regulation of cerebellar granule cell precursor proliferation  (IDA)
positive regulation of DNA-templated transcription  (IDA,ISO)
positive regulation of endothelial cell chemotaxis  (ISO)
positive regulation of epithelial cell proliferation  (IGI,IMP)
positive regulation of epithelial cell proliferation involved in prostate gland development  (IMP)
positive regulation of gene expression  (IMP)
positive regulation of immature T cell proliferation in thymus  (IMP)
positive regulation of kidney smooth muscle cell differentiation  (IDA)
positive regulation of mesenchymal cell proliferation  (IMP)
positive regulation of mesenchymal cell proliferation involved in ureter development  (IMP)
positive regulation of neuroblast proliferation  (IDA,IMP,ISO)
positive regulation of neuron differentiation  (ISO)
positive regulation of neurotrophin production  (ISO)
positive regulation of oligodendrocyte differentiation  (IDA)
positive regulation of oligodendrocyte progenitor proliferation  (ISO)
positive regulation of penile erection  (ISO)
positive regulation of photoreceptor cell differentiation  (ISO)
positive regulation of protein import into nucleus  (IGI)
positive regulation of sclerotome development  (ISO)
positive regulation of skeletal muscle cell proliferation  (IMP)
positive regulation of skeletal muscle tissue development  (IMP)
positive regulation of smoothened signaling pathway  (ISO)
positive regulation of sprouting angiogenesis  (ISO)
positive regulation of striated muscle cell differentiation  (IMP)
positive regulation of T cell differentiation in thymus  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IGI,IMP)
positive regulation of ureter smooth muscle cell differentiation  (IMP)
positive regulation of Wnt signaling pathway  (IMP)
positive thymic T cell selection  (IMP)
primary prostatic bud elongation  (IDA)
prostate epithelial cord elongation  (IDA)
prostate gland development  (IMP,ISO)
prostatic bud formation  (IGI)
protein autoprocessing  (IEA)
protein import into nucleus  (IGI)
protein localization to nucleus  (IDA)
proteolysis  (IEA)
regulation of cell population proliferation  (ISO)
regulation of DNA-templated transcription  (IMP)
regulation of epithelial cell differentiation  (ISO)
regulation of epithelial cell proliferation involved in prostate gland development  (IMP)
regulation of gene expression  (IDA,IGI,IMP,ISO)
regulation of glial cell proliferation  (IDA)
regulation of mesenchymal cell proliferation involved in prostate gland development  (IMP)
regulation of odontogenesis  (IMP)
regulation of prostatic bud formation  (IDA,IMP)
regulation of protein localization to nucleus  (ISO)
regulation of proteolysis  (IDA)
regulation of stem cell proliferation  (IMP)
respiratory tube development  (IMP)
response to axon injury  (ISO)
response to estradiol  (ISO)
response to ethanol  (ISO)
response to hypoxia  (ISO)
response to organonitrogen compound  (ISO)
response to retinoic acid  (ISO)
right lung development  (IMP)
roof of mouth development  (IMP)
salivary gland cavitation  (IDA)
self proteolysis  (IDA)
signal transduction  (TAS)
skeletal muscle cell proliferation  (IMP)
skeletal muscle fiber differentiation  (IMP)
skeletal muscle tissue development  (IMP)
skin development  (IMP)
smooth muscle tissue development  (ISO)
smoothened signaling pathway  (IDA,IGI,IMP,ISO)
somite development  (IMP)
spinal cord dorsal/ventral patterning  (IMP,ISO)
spinal cord motor neuron differentiation  (IGI)
stem cell development  (IMP)
stem cell proliferation  (IDA)
striated muscle cell differentiation  (IDA)
striated muscle tissue development  (IMP)
T cell differentiation in thymus  (IMP)
T cell proliferation  (IMP)
telencephalon regionalization  (IMP,ISO)
thalamus development  (IGI,IMP)
thymus development  (IMP)
thyroid gland development  (IMP)
tongue development  (ISO)
tongue morphogenesis  (ISO)
trachea development  (IMP)
trachea morphogenesis  (IMP)
tracheoesophageal septum formation  (IMP)
trunk neural crest cell migration  (IDA)
vasculature development  (IMP)
vasculogenesis  (IDA)
vasculogenesis involved in coronary vascular morphogenesis  (TAS)
ventral spinal cord interneuron specification  (ISO)
zona limitans intrathalamica formation  (ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal adenohypophysis development  (IAGP)
abnormal adrenal gland morphology  (IAGP)
abnormal adrenal gland physiology  (IAGP)
abnormal adrenocortical cell morphology  (IAGP)
abnormal airway basal cell morphology  (IAGP)
abnormal aldosterone level  (IAGP)
abnormal ameloblast morphology  (IAGP)
abnormal artery morphology  (IAGP)
abnormal arytenoid cartilage morphology  (IAGP)
abnormal astrocyte morphology  (IAGP)
abnormal atrium myocardium morphology  (IAGP)
abnormal autopod morphology  (IAGP)
abnormal axial skeleton morphology  (IAGP)
abnormal basisphenoid bone morphology  (IAGP)
abnormal brain interneuron morphology  (IAGP)
abnormal branching involved in lung morphogenesis  (IAGP)
abnormal bronchiole epithelium morphology  (IAGP)
abnormal bronchus morphology  (IAGP)
abnormal cardiac outflow tract development  (IAGP)
abnormal cardiovascular system morphology  (IAGP)
abnormal carpal bone morphology  (IAGP)
abnormal cartilage development  (IAGP)
abnormal cartilage morphology  (IAGP)
abnormal cell differentiation  (IAGP)
abnormal cell physiology  (IAGP)
abnormal cerebellar granule cell morphology  (IAGP)
abnormal cerebellar granule layer morphology  (IAGP)
abnormal cerebellar lobule formation  (IAGP)
abnormal cerebellar molecular layer  (IAGP)
abnormal cerebellar Purkinje cell layer  (IAGP)
abnormal cerebellum development  (IAGP)
abnormal cerebellum external granule cell layer morphology  (IAGP)
abnormal cerebellum morphology  (IAGP)
abnormal cerebral hemisphere morphology  (IAGP)
abnormal chondrocyte differentiation  (IAGP)
abnormal choroid plexus morphology  (IAGP)
abnormal clavicle morphology  (IAGP)
abnormal colon morphology  (IAGP)
abnormal corpus callosum morphology  (IAGP)
abnormal craniofacial bone morphology  (IAGP)
abnormal craniofacial development  (IAGP)
abnormal craniofacial morphology  (IAGP)
abnormal cranium morphology  (IAGP)
abnormal cystic duct morphology  (IAGP)
abnormal dentin morphology  (IAGP)
abnormal dermal layer morphology  (IAGP)
abnormal dermis papillary layer morphology  (IAGP)
abnormal diencephalon morphology  (IAGP)
abnormal digestive organ placement  (IAGP)
abnormal digestive system morphology  (IAGP)
abnormal digit morphology  (IAGP)
abnormal dorsal-ventral axis patterning  (IAGP)
abnormal duodenum morphology  (IAGP)
abnormal ear morphology  (IAGP)
abnormal embryo development  (IAGP)
abnormal embryo size  (IAGP)
abnormal embryo turning  (IAGP)
abnormal embryonic autopod plate morphology  (IAGP)
abnormal embryonic/fetal subventricular zone morphology  (IAGP)
abnormal enamel morphology  (IAGP)
abnormal enteric neuron morphology  (IAGP)
abnormal esophageal epithelium morphology  (IAGP)
abnormal esophagus morphology  (IAGP)
abnormal eye development  (IAGP)
abnormal eye morphology  (IAGP)
abnormal eyelid morphology  (IAGP)
abnormal facial morphology  (IAGP)
abnormal floor plate morphology  (IAGP)
abnormal forebrain morphology  (IAGP)
abnormal foregut morphology  (IAGP)
abnormal forelimb zeugopod morphology  (IAGP)
abnormal forestomach morphology  (IAGP)
abnormal frontal bone morphology  (IAGP)
abnormal frontonasal prominence morphology  (IAGP)
abnormal gait  (IAGP)
abnormal gallbladder smooth muscle morphology  (IAGP)
abnormal gastric surface mucous cell morphology  (IAGP)
abnormal genital tubercle morphology  (IAGP)
abnormal glial cell morphology  (IAGP)
abnormal hair follicle development  (IAGP)
abnormal hair follicle morphology  (IAGP)
abnormal hair follicle orientation  (IAGP)
abnormal hair shaft morphology  (IAGP)
abnormal heart left atrium morphology  (IAGP)
abnormal heart morphology  (IAGP)
abnormal heart tube morphology  (IAGP)
abnormal hindlimb morphology  (IAGP)
abnormal hindlimb zeugopod morphology  (IAGP)
abnormal hippocampus development  (IAGP)
abnormal humerus morphology  (IAGP)
abnormal hypothalamus morphology  (IAGP)
abnormal incisor morphology  (IAGP)
abnormal innervation  (IAGP)
abnormal interparietal bone morphology  (IAGP)
abnormal intervertebral disk morphology  (IAGP)
abnormal ischium morphology  (IAGP)
abnormal joint morphology  (IAGP)
abnormal kidney inner medulla morphology  (IAGP)
abnormal kidney morphology  (IAGP)
abnormal kidney outer medulla inner stripe morphology  (IAGP)
abnormal lateral ganglionic eminence morphology  (IAGP)
abnormal limb bone morphology  (IAGP)
abnormal limb bud morphology  (IAGP)
abnormal limb development  (IAGP)
abnormal limb morphology  (IAGP)
abnormal liver development  (IAGP)
abnormal long bone morphology  (IAGP)
abnormal lower incisor morphology  (IAGP)
abnormal lung development  (IAGP)
abnormal lung epithelium morphology  (IAGP)
abnormal lung lobe morphology  (IAGP)
abnormal lung morphology  (IAGP)
abnormal lung saccule morphology  (IAGP)
abnormal lung vasculature morphology  (IAGP)
abnormal lung-associated mesenchyme development  (IAGP)
abnormal magnocellular neurosecretory cell morphology  (IAGP)
abnormal mandible morphology  (IAGP)
abnormal maxilla morphology  (IAGP)
abnormal maxillary prominence morphology  (IAGP)
abnormal maxillary shelf morphology  (IAGP)
abnormal Meckel's cartilage morphology  (IAGP)
abnormal medial ganglionic eminence morphology  (IAGP)
abnormal medial nasal prominence morphology  (IAGP)
abnormal midbrain morphology  (IAGP)
abnormal middle ear morphology  (IAGP)
abnormal molar cusp morphology  (IAGP)
abnormal molar morphology  (IAGP)
abnormal motor capabilities/coordination/movement  (IAGP)
abnormal motor neuron morphology  (IAGP)
abnormal nasal bone morphology  (IAGP)
abnormal nasal capsule morphology  (IAGP)
abnormal nasal cavity morphology  (IAGP)
abnormal nasal pit morphology  (IAGP)
abnormal nervous system morphology  (IAGP)
abnormal neural crest cell apoptosis  (IAGP)
abnormal neural crest cell migration  (IAGP)
abnormal neural tube morphology  (IAGP)
abnormal neurocranium morphology  (IAGP)
abnormal neurohypophysis development  (IAGP)
abnormal neuron differentiation  (IAGP)
abnormal neuron specification  (IAGP)
abnormal nose morphology  (IAGP)
abnormal odontoblast morphology  (IAGP)
abnormal optic cup morphology  (IAGP)
abnormal optic nerve morphology  (IAGP)
abnormal optic stalk morphology  (IAGP)
abnormal optic vesicle formation  (IAGP)
abnormal orbit morphology  (IAGP)
abnormal otic vesicle development  (IAGP)
abnormal outer ear morphology  (IAGP)
abnormal palatal rugae morphology  (IAGP)
abnormal palatal shelf fusion at midline  (IAGP)
abnormal parietal bone morphology  (IAGP)
abnormal parvocellular neurosecretory cell morphology  (IAGP)
abnormal pectoral girdle bone morphology  (IAGP)
abnormal pelvic girdle bone morphology  (IAGP)
abnormal phalanx morphology  (IAGP)
abnormal pharynx morphology  (IAGP)
abnormal physiological neovascularization  (IAGP)
abnormal posterior semicircular canal morphology  (IAGP)
abnormal postnatal subventricular zone morphology  (IAGP)
abnormal premaxilla morphology  (IAGP)
abnormal prenatal growth/weight/body size  (IAGP)
abnormal primitive urogenital sinus morphology  (IAGP)
abnormal pterygoid bone morphology  (IAGP)
abnormal pubis morphology  (IAGP)
abnormal pulmonary artery morphology  (IAGP)
abnormal pulmonary vein morphology  (IAGP)
abnormal Rathke's pouch development  (IAGP)
abnormal renal glomerulus morphology  (IAGP)
abnormal reproductive system development  (IAGP)
abnormal reproductive system physiology  (IAGP)
abnormal respiratory conducting tube morphology  (IAGP)
abnormal respiratory epithelium morphology  (IAGP)
abnormal respiratory epithelium physiology  (IAGP)
abnormal respiratory motile cilium morphology  (IAGP)
abnormal respiratory system development  (IAGP)
abnormal respiratory system morphology  (IAGP)
abnormal retina ganglion cell morphology  (IAGP)
abnormal retina morphology  (IAGP)
abnormal rib morphology  (IAGP)
abnormal rostral-caudal body axis extension  (IAGP)
abnormal scapula morphology  (IAGP)
abnormal skeleton morphology  (IAGP)
abnormal skin morphology  (IAGP)
abnormal small intestine morphology  (IAGP)
abnormal smooth muscle morphology  (IAGP)
abnormal somite shape  (IAGP)
abnormal spinal cord interneuron morphology  (IAGP)
abnormal spinal cord lateral motor column morphology  (IAGP)
abnormal spinal cord morphology  (IAGP)
abnormal stapes morphology  (IAGP)
abnormal stomach glandular epithelium morphology  (IAGP)
abnormal stomach pH  (IAGP)
abnormal submandibular gland morphology  (IAGP)
abnormal superior semicircular canal morphology  (IAGP)
abnormal synaptic dopamine release  (IAGP)
abnormal tail development  (IAGP)
abnormal tarsal bone morphology  (IAGP)
abnormal telencephalon development  (IAGP)
abnormal telencephalon morphology  (IAGP)
abnormal temporal bone morphology  (IAGP)
abnormal temporal bone squamous part morphology  (IAGP)
abnormal trachea morphology  (IAGP)
abnormal tracheal cartilage morphology  (IAGP)
abnormal tracheal ciliated epithelium morphology  (IAGP)
abnormal tracheal smooth muscle morphology  (IAGP)
abnormal ureter development  (IAGP)
abnormal ureter smooth muscle morphology  (IAGP)
abnormal urethra urothelium morphology  (IAGP)
abnormal vascular smooth muscle morphology  (IAGP)
abnormal vasculogenesis  (IAGP)
abnormal ventral interneuron 2 morphology  (IAGP)
abnormal ventral interneuron 3 morphology  (IAGP)
abnormal ventral tubercle of atlas morphology  (IAGP)
abnormal vertebrae morphology  (IAGP)
abnormal vertebral body morphology  (IAGP)
abnormal visceral yolk sac mesenchyme morphology  (IAGP)
abnormal visceral yolk sac morphology  (IAGP)
abnormal xiphoid process morphology  (IAGP)
absent alveolar process  (IAGP)
absent cartilage  (IAGP)
absent cerebellar lobules  (IAGP)
absent club cells  (IAGP)
absent corpus callosum  (IAGP)
absent deltoid tuberosity  (IAGP)
absent diencephalon  (IAGP)
absent enamel cord  (IAGP)
absent endolymphatic duct  (IAGP)
absent external female genitalia  (IAGP)
absent external male genitalia  (IAGP)
absent fibula  (IAGP)
absent floor plate  (IAGP)
absent forelimb  (IAGP)
absent gonial bone  (IAGP)
absent hair follicle inner root sheath  (IAGP)
absent hair follicles  (IAGP)
absent hindlimb  (IAGP)
absent incus  (IAGP)
absent lateral semicircular canal  (IAGP)
absent lung buds  (IAGP)
absent lungs  (IAGP)
absent malleus  (IAGP)
absent mandible  (IAGP)
absent mandibular symphysis  (IAGP)
absent mouth  (IAGP)
absent nasal bone  (IAGP)
absent nasal septum  (IAGP)
absent notochord  (IAGP)
absent olfactory bulb  (IAGP)
absent olfactory epithelium  (IAGP)
absent parietal bone  (IAGP)
absent philtrum  (IAGP)
absent premaxilla  (IAGP)
absent pulmonary vein  (IAGP)
absent scala media  (IAGP)
absent tibia  (IAGP)
absent tongue  (IAGP)
absent tracheal cartilage rings  (IAGP)
absent tympanic ring  (IAGP)
absent utricle  (IAGP)
absent vertebrae  (IAGP)
absent vestibular saccule  (IAGP)
absent vestibulocochlear ganglion  (IAGP)
absent vibrissae  (IAGP)
absent vitelline blood vessels  (IAGP)
acephaly  (IAGP)
adactyly  (IAGP)
aerophagia  (IAGP)
alisphenoid bone hypoplasia  (IAGP)
alopecia  (IAGP)
anal atresia  (IAGP)
annular pancreas  (IAGP)
anophthalmia  (IAGP)
aphakia  (IAGP)
arrest of tooth development  (IAGP)
ataxia  (IAGP)
basisphenoid bone hypoplasia  (IAGP)
brachydactyly  (IAGP)
brachyphalangia  (IAGP)
cardiac edema  (IAGP)
cerebellum hypoplasia  (IAGP)
cervical vertebral fusion  (IEA)
cleft secondary palate  (IAGP)
cyclopia  (IAGP)
decreased birth body size  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased bone mineral content  (IEA)
decreased brain size  (IAGP)
decreased brain weight  (IAGP)
decreased cell migration  (IAGP)
decreased cell proliferation  (IAGP)
decreased chondrocyte proliferation  (IAGP)
decreased circulating corticosterone level  (IAGP)
decreased club cell number  (IAGP)
decreased dopamine level  (IAGP)
decreased embryo size  (IAGP)
decreased fetal size  (IAGP)
decreased keratinocyte proliferation  (IAGP)
decreased lean body mass  (IEA)
decreased locomotor activity  (IAGP)
decreased midbrain size  (IAGP)
decreased motor neuron number  (IAGP)
decreased neuron number  (IAGP)
decreased neuronal precursor cell number  (IAGP)
decreased Purkinje cell number  (IAGP)
decreased renal glomerulus number  (IAGP)
decreased respiratory mucosa goblet cell number  (IAGP)
decreased rib number  (IAGP)
decreased somite size  (IAGP)
decreased spinal cord size  (IAGP)
decreased tracheal cartilage ring number  (IAGP)
delayed wound healing  (IAGP)
disorganized thalamus  (IAGP)
ectopic neurohypophysis  (IAGP)
edema  (IAGP)
embryonic growth arrest  (IAGP)
embryonic growth retardation  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
embryonic lethality during organogenesis, incomplete penetrance  (IAGP)
embryonic lethality, complete penetrance  (IAGP)
enlarged adrenocortical cells  (IAGP)
enlarged brain ventricles  (IAGP)
enlarged lung  (IAGP)
enlarged pericardium  (IAGP)
epidermal hyperplasia  (IAGP)
epiglottis hypoplasia  (IAGP)
exencephaly  (IAGP)
eyelids open at birth  (IAGP)
failure of heart looping  (IAGP)
failure of initiation of embryo turning  (IAGP)
fetal growth retardation  (IAGP)
forelimb oligodactyly  (IAGP)
frontonasal prominence hypoplasia  (IAGP)
fused joints  (IAGP)
fusion of atlas and odontoid process  (IAGP)
gastric metaplasia  (IAGP)
growth retardation of incisors  (IAGP)
growth retardation of molars  (IAGP)
hindlimb oligodactyly  (IAGP)
hindlimb paralysis  (IAGP)
holoprosencephaly  (IAGP)
hydronephrosis  (IAGP)
hydroureter  (IAGP)
hyperactivity  (IAGP)
impaired branching involved in bronchus morphogenesis  (IAGP)
impaired glucose tolerance  (IEA)
impaired lung lobe morphogenesis  (IAGP)
impaired myofibroblast differentiation  (IAGP)
increased apoptosis  (IAGP)
increased circulating adrenocorticotropin level  (IAGP)
increased circulating HDL cholesterol level  (IEA)
increased dopamine level  (IAGP)
increased forebrain size  (IAGP)
increased lung apoptosis  (IAGP)
increased mesenchymal cell proliferation involved in lung development  (IAGP)
increased midbrain size  (IAGP)
increased neuron number  (IAGP)
increased neuronal precursor cell number  (IAGP)
increased solitary pulmonary neuroendocrine cell number  (IAGP)
increased total body fat amount  (IEA)
kidney cortex hypoplasia  (IAGP)
kidney medulla hypoplasia  (IAGP)
left pulmonary isomerism  (IAGP)
lethality throughout fetal growth and development, incomplete penetrance  (IAGP)
loss of dopaminergic neurons  (IAGP)
lung cyst  (IAGP)
lung inflammation  (IAGP)
mandible hypoplasia  (IAGP)
megacephaly  (IAGP)
microcephaly  (IAGP)
microphthalmia  (IAGP)
neonatal lethality  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
no abnormal phenotype detected  (IAGP)
notochord degeneration  (IAGP)
occipital bone foramen  (IAGP)
ocular hypertelorism  (IAGP)
ocular hypotelorism  (IAGP)
olfactory bulb hypoplasia  (IAGP)
oligodactyly  (IAGP)
open neural tube  (IAGP)
palatal shelf hypoplasia  (IAGP)
palatal shelves fail to meet at midline  (IAGP)
perinatal lethality  (IAGP)
perinatal lethality, complete penetrance  (IAGP)
perinatal lethality, incomplete penetrance  (IAGP)
persistent truncus arteriosus  (IAGP)
polydactyly  (IAGP)
polyphalangy  (IAGP)
postaxial polydactyly  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
preaxial polydactyly  (IAGP)
premature coronal suture closure  (IAGP)
premature death  (IAGP)
premature neuronal precursor differentiation  (IAGP)
premaxilla hypoplasia  (IAGP)
prenatal lethality  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
preweaning lethality, complete penetrance  (IAGP)
proboscis  (IAGP)
pulmonary hypoplasia  (IAGP)
renal hypoplasia  (IAGP)
respiratory distress  (IAGP)
respiratory failure  (IAGP)
round head  (IAGP)
seizures  (IAGP)
short limbs  (IAGP)
short mandible  (IAGP)
short Meckel's cartilage  (IAGP)
short metacarpal bones  (IAGP)
short snout  (IAGP)
short tibia  (IAGP)
short ureter  (IAGP)
single external naris  (IAGP)
slow postnatal weight gain  (IAGP)
small adrenal glands  (IAGP)
small cerebellum  (IAGP)
small cranium  (IAGP)
small gallbladder  (IAGP)
small incisors  (IAGP)
small kidney  (IAGP)
small lung  (IAGP)
small lung lobe  (IAGP)
small molars  (IAGP)
small olfactory bulb  (IAGP)
small snout  (IAGP)
small stomach  (IAGP)
spina bifida  (IAGP)
stomach epithelial hyperplasia  (IAGP)
syndactyly  (IAGP)
synostosis  (IAGP)
thick epidermis  (IAGP)
thin adrenal cortex  (IAGP)
thin epidermis  (IAGP)
thin external granule cell layer  (IAGP)
thin interparietal bone  (IAGP)
trachea stenosis  (IAGP)
tracheoesophageal fistula  (IAGP)
vomer bone hypoplasia  (IAGP)

References - curated
# Reference Title Reference Citation
1. Sonic Hedgehog gene delivery to the rodent heart promotes angiogenesis via iNOS/netrin-1/PKC pathway. Ahmed RP, etal., PLoS One. 2010 Jan 5;5(1):e8576. doi: 10.1371/journal.pone.0008576.
2. Relationship between Sonic hedgehog protein, brain-derived neurotrophic factor and oxidative stress in autism spectrum disorders. Al-Ayadhi LY, Neurochem Res. 2012 Feb;37(2):394-400. doi: 10.1007/s11064-011-0624-x. Epub 2011 Oct 9.
3. A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. Al-Qattan MM, etal., Am J Med Genet A. 2012 Oct;158A(10):2610-5. doi: 10.1002/ajmg.a.35584. Epub 2012 Aug 17.
4. Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly. Albuisson J, etal., Clin Genet. 2011 Apr;79(4):371-7. doi: 10.1111/j.1399-0004.2010.01465.x.
5. Sonic hedgehog is neuroprotective in the cavernous nerve with crush injury. Angeloni N, etal., J Sex Med. 2013 May;10(5):1240-50. doi: 10.1111/j.1743-6109.2012.02930.x. Epub 2012 Sep 20.
6. Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly. Aoto K, etal., Birth Defects Res A Clin Mol Teratol. 2008 Apr;82(4):224-31. doi: 10.1002/bdra.20447.
7. Improvement of neurological recovery and stimulation of neural progenitor cell proliferation by intrathecal administration of Sonic hedgehog. Bambakidis NC, etal., J Neurosurg. 2012 May;116(5):1114-20. doi: 10.3171/2012.1.JNS111285. Epub 2012 Feb 10.
8. Interactions between Hedgehog proteins and their binding partners come into view. Beachy PA, etal., Genes Dev. 2010 Sep 15;24(18):2001-12.
9. Epigenetic changes in Basal Cell Carcinoma affect SHH and WNT signaling components. Brinkhuizen T, etal., PLoS One. 2012;7(12):e51710. doi: 10.1371/journal.pone.0051710. Epub 2012 Dec 17.
10. Dynamic changes of Sonic Hedgehog signaling pathway in gastric mucosa of rats with MNNG-induced gastric precancerous lesions. Cai D, etal., J Cell Physiol. 2019 Jul;234(7):10827-10834. doi: 10.1002/jcp.27908. Epub 2018 Dec 7.
11. Upregulation of Shh and Ptc1 in hyperoxia-induced acute lung injury in neonatal rats. Dang H, etal., Mol Med Rep. 2012 Aug;6(2):297-302. doi: 10.3892/mmr.2012.929. Epub 2012 May 28.
12. Sonic hedgehog signaling mediates epithelial-mesenchymal communication and promotes renal fibrosis. Ding H, etal., J Am Soc Nephrol. 2012 May;23(5):801-13. doi: 10.1681/ASN.2011060614. Epub 2012 Feb 2.
13. Increased expression of sonic hedgehog in temporal lobe epileptic foci in humans and experimental rats. Fang M, etal., Neuroscience. 2011 May 19;182:62-70. doi: 10.1016/j.neuroscience.2011.02.060. Epub 2011 Mar 3.
14. Abnormal Sonic hedgehog signaling in the lung of rats with esophageal atresia induced by adriamycin. Fragoso AC, etal., Pediatr Res. 2014 Oct;76(4):355-62. doi: 10.1038/pr.2014.105. Epub 2014 Jul 8.
15. A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb. Furniss D, etal., Hum Mol Genet. 2008 Aug 15;17(16):2417-23. doi: 10.1093/hmg/ddn141. Epub 2008 May 7.
16. [Mutation and expression of WNT8b gene and SHH gene in Hirschsprung disease]. Gao H, etal., Zhonghua Wei Chang Wai Ke Za Zhi. 2010 Oct;13(10):758-61.
17. Notochord anomalies in the adriamycin rat model: A morphologic and molecular basis for the VACTERL association. Gillick J, etal., J Pediatr Surg. 2003 Mar;38(3):469-73; discussion 469-73.
18. Correlation Between Hedgehog (Hh) Protein Family and Brain-Derived Neurotrophic Factor (BDNF) in Autism Spectrum Disorder (ASD). Halepoto DM, etal., J Coll Physicians Surg Pak. 2015 Dec;25(12):882-5. doi: 12.2015/JCPSP.882885.
19. Expression of sonic hedgehog regulates morphological changes of rat developing cerebellum in hypothyroidism. Hasebe M, etal., J Toxicol Sci. 2008 Oct;33(4):473-7.
20. Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly. Heussler HS, etal., Arch Dis Child. 2002 Apr;86(4):293-6.
21. Left cardiac isomerism in the Sonic hedgehog null mouse. Hildreth V, etal., J Anat. 2009 Jun;214(6):894-904. doi: 10.1111/j.1469-7580.2009.01087.x.
22. Hypermethylation of SHH in the pathogenesis of congenital anorectal malformations. Huang Y, etal., J Pediatr Surg. 2014 Sep;49(9):1400-4. doi: 10.1016/j.jpedsurg.2014.03.007.
23. Hypoxia-induced compensatory effect as related to Shh and HIF-1alpha in ischemia embryo rat heart. Hwang JM, etal., Mol Cell Biochem. 2008 Apr;311(1-2):179-87. Epub 2008 Jan 29.
24. Bone marrow-derived mesenchymal stem cells expressing the Shh transgene promotes functional recovery after spinal cord injury in rats. Jia Y, etal., Neurosci Lett. 2014 Jun 24;573:46-51. doi: 10.1016/j.neulet.2014.05.010. Epub 2014 May 15.
25. Sonic hedgehog (SHH) and glioblastoma-2 (Gli-2) expressions are associated with poor jaundice-free survival in biliary atresia. Jung HY, etal., J Pediatr Surg. 2015 Mar;50(3):371-6. doi: 10.1016/j.jpedsurg.2014.08.025. Epub 2014 Dec 20.
26. Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud. Krebs O, etal., Development. 2003 Dec;130(24):6037-47.
27. Expression of hedgehog signal pathway in articular cartilage is associated with the severity of cartilage damage in rats with adjuvant-induced arthritis. Li R, etal., J Inflamm (Lond). 2015 Mar 28;12:24. doi: 10.1186/s12950-015-0072-5. eCollection 2015.
28. The role of the sonic hedgehog signaling pathway in early brain injury after experimental subarachnoid hemorrhage in rats. Li T, etal., Neurosci Lett. 2013 Sep 27;552:81-6. doi: 10.1016/j.neulet.2013.07.042. Epub 2013 Aug 7.
29. Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. Maity T, etal., Proc Natl Acad Sci U S A. 2005 Nov 22;102(47):17026-31. Epub 2005 Nov 10.
30. Sonic hedgehog, BMP4, and Hox genes in the development of anorectal malformations in Ethylenethiourea-exposed fetal rats. Mandhan P, etal., J Pediatr Surg. 2006 Dec;41(12):2041-5.
31. Attenuation of experimental autoimmune encephalomyelitis and nonimmune demyelination by IFN-beta plus vitamin B12: treatment to modify notch-1/sonic hedgehog balance. Mastronardi FG, etal., J Immunol. 2004 May 15;172(10):6418-26.
32. The amount of sonic hedgehog in multiple sclerosis white matter is decreased and cleavage to the signaling peptide is deficient. Mastronardi FG, etal., Mult Scler. 2003 Aug;9(4):362-71.
33. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
34. MGDs mouse GO annotations MGD data from the GO Consortium
36. Frequent deregulations in the hedgehog signaling network and cross-talks with the epidermal growth factor receptor pathway involved in cancer progression and targeted therapies. Mimeault M and Batra SK, Pharmacol Rev. 2010 Sep;62(3):497-524.
37. Pituitary adenylate cyclase-activating polypeptide and sonic hedgehog interact to control cerebellar granule precursor cell proliferation. Nicot A, etal., J Neurosci 2002 Nov 1;22(21):9244-54.
38. An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. Niedermaier M, etal., J Clin Invest. 2005 Apr;115(4):900-9.
39. Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Odent S, etal., Hum Mol Genet. 1999 Sep;8(9):1683-9.
40. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
41. Basal cell carcinomas in mice overexpressing sonic hedgehog. Oro AE, etal., Science. 1997 May 2;276(5313):817-21.
42. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
43. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
44. Mouse MP Annotation Import Pipeline RGD automated import pipeline
45. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
46. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
47. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Roessler E, etal., Nat Genet. 1996 Nov;14(3):357-60.
48. Defining the molecular pathologies in cloaca malformation: similarities between mouse and human. Runck LA, etal., Dis Model Mech. 2014 Apr;7(4):483-93. doi: 10.1242/dmm.014530. Epub 2014 Feb 13.
49. Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb. Sagai T, etal., Development. 2005 Feb;132(4):797-803.
50. Temporal and spatial expression of Pax9 and Sonic hedgehog during development of normal mouse palates and cleft palates in TGF-beta3 null embryos. Sasaki Y, etal., Arch Oral Biol. 2007 Mar;52(3):260-7. Epub 2006 Nov 13.
51. Activation of the sonic hedgehog pathway and its prognostic impact in patients with gastric cancer. Saze Z, etal., Dig Surg. 2012;29(2):115-23. doi: 10.1159/000336949. Epub 2012 Mar 27.
52. Differential expression of sonic hedgehog immunoreactivity during lesion evolution in autoimmune encephalomyelitis. Seifert T, etal., J Neuropathol Exp Neurol. 2005 May;64(5):404-11.
53. Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch. Sharpe J, etal., Curr Biol. 1999 Jan 28;9(2):97-100.
54. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. Sun M, etal., J Med Genet. 2008 Sep;45(9):589-95. doi: 10.1136/jmg.2008.057646. Epub 2008 Apr 16.
55. Expression and clinical significance of hedgehog signaling pathway related components in colorectal cancer. Wang H, etal., Asian Pac J Cancer Prev. 2012;13(5):2319-24. doi: 10.7314/apjcp.2012.13.5.2319.
56. Paradoxical dysregulation of the neural stem cell pathway sonic hedgehog-Gli1 in autoimmune encephalomyelitis and multiple sclerosis. Wang Y, etal., Ann Neurol. 2008 Oct;64(4):417-27. doi: 10.1002/ana.21457.
57. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. Wieczorek D, etal., Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142.
58. Pancreatic cancer: molecular pathogenesis and new therapeutic targets. Wong HH and Lemoine NR, Nat Rev Gastroenterol Hepatol. 2009 Jul;6(7):412-22. Epub 2009 Jun 9.
59. Neuroprotective effect of up-regulated Sonic hedgehog in retinal ganglion cells following chronic ocular hypertension. Wu J, etal., Invest Ophthalmol Vis Sci. 2010 Jan 13.
60. Expressions of sonic hedgehog, patched, smoothened and Gli-1 in human intestinal stromal tumors and their correlation with prognosis. Yoshizaki A, etal., World J Gastroenterol. 2006 Sep 21;12(35):5687-91. doi: 10.3748/wjg.v12.i35.5687.
61. Down-regulation of SHH/BMP4 signalling in human anorectal malformations. Zhang J, etal., J Int Med Res. 2009 Nov-Dec;37(6):1842-50.
62. Lentivirus-mediated delivery of sonic hedgehog into the striatum stimulates neuroregeneration in a rat model of Parkinson disease. Zhang Y, etal., Neurol Sci. 2014 Dec;35(12):1931-40. doi: 10.1007/s10072-014-1866-6. Epub 2014 Jul 17.
63. [Expression of sonic hedgehog signaling pathw ay and its inhibition by cyclopamine in rat liver with chronic fluorosis]. Zhao L, etal., Zhonghua Bing Li Xue Za Zhi. 2014 Dec;43(12):814-9.
64. Sonic hedgehog is a novel tubule-derived growth factor for interstitial fibroblasts after kidney injury. Zhou D, etal., J Am Soc Nephrol. 2014 Oct;25(10):2187-200. doi: 10.1681/ASN.2013080893. Epub 2014 Apr 17.
Additional References at PubMed
PMID:1363228   PMID:2307472   PMID:2523855   PMID:6276492   PMID:6322171   PMID:7334311   PMID:7477329   PMID:7543410   PMID:7579523   PMID:7584992   PMID:7588050   PMID:7588062  
PMID:7589793   PMID:7589801   PMID:7590255   PMID:7590746   PMID:7619528   PMID:7628698   PMID:7635045   PMID:7671817   PMID:7720556   PMID:7720571   PMID:7734393   PMID:7736596  
PMID:7753196   PMID:7768172   PMID:7789282   PMID:7821639   PMID:7885472   PMID:7891723   PMID:7915198   PMID:7916661   PMID:7919658   PMID:8001153   PMID:8001822   PMID:8001823  
PMID:8069909   PMID:8069910   PMID:8270769   PMID:8565076   PMID:8575293   PMID:8575300   PMID:8575323   PMID:8579575   PMID:8595881   PMID:8610012   PMID:8625829   PMID:8647801  
PMID:8651887   PMID:8652411   PMID:8660860   PMID:8660874   PMID:8674409   PMID:8756299   PMID:8769111   PMID:8787761   PMID:8791524   PMID:8791525   PMID:8791534   PMID:8792609  
PMID:8808404   PMID:8824192   PMID:8835524   PMID:8837770   PMID:8849902   PMID:8896571   PMID:8906418   PMID:8906787   PMID:8922528   PMID:8927054   PMID:8951055   PMID:9000074  
PMID:9006067   PMID:9006072   PMID:9006074   PMID:9009843   PMID:9019247   PMID:9053312   PMID:9056778   PMID:9070329   PMID:9073443   PMID:9109488   PMID:9118802   PMID:9126297  
PMID:9152005   PMID:9152009   PMID:9152011   PMID:9158147   PMID:9169087   PMID:9203584   PMID:9205942   PMID:9216996   PMID:9226442   PMID:9226455   PMID:9230312   PMID:9232602  
PMID:9237688   PMID:9247260   PMID:9256345   PMID:9262482   PMID:9268572   PMID:9268579   PMID:9309186   PMID:9325153   PMID:9334279   PMID:9342041   PMID:9342056   PMID:9347917  
PMID:9356179   PMID:9362463   PMID:9368764   PMID:9374397   PMID:9375918   PMID:9392510   PMID:9409670   PMID:9415428   PMID:9425131   PMID:9428417   PMID:9428423   PMID:9435295  
PMID:9438426   PMID:9441674   PMID:9462734   PMID:9466889   PMID:9477322   PMID:9486790   PMID:9490412   PMID:9510020   PMID:9510022   PMID:9531541   PMID:9545534   PMID:9545546  
PMID:9570771   PMID:9585504   PMID:9620767   PMID:9620855   PMID:9630220   PMID:9631179   PMID:9636069   PMID:9651475   PMID:9655799   PMID:9655803   PMID:9662403   PMID:9671576  
PMID:9671585   PMID:9712518   PMID:9716414   PMID:9731531   PMID:9731532   PMID:9733575   PMID:9739106   PMID:9739117   PMID:9768360   PMID:9768363   PMID:9769173   PMID:9790191  
PMID:9799237   PMID:9799429   PMID:9808779   PMID:9811571   PMID:9811851   PMID:9825674   PMID:9834182   PMID:9847242   PMID:9847249   PMID:9851841   PMID:9858693   PMID:9882493  
PMID:9882503   PMID:9885252   PMID:9886035   PMID:9915571   PMID:9915577   PMID:9916808   PMID:9988216   PMID:9988217   PMID:9988878   PMID:10021340   PMID:10021344   PMID:10027293  
PMID:10049363   PMID:10050855   PMID:10064544   PMID:10079220   PMID:10079223   PMID:10079236   PMID:10087923   PMID:10096602   PMID:10098408   PMID:10191046   PMID:10192390   PMID:10199963  
PMID:10208740   PMID:10208743   PMID:10210434   PMID:10217145   PMID:10226030   PMID:10330024   PMID:10330409   PMID:10330496   PMID:10331973   PMID:10340755   PMID:10349636   PMID:10357893  
PMID:10357934   PMID:10373304   PMID:10375501   PMID:10385121   PMID:10391928   PMID:10393115   PMID:10395791   PMID:10398531   PMID:10409432   PMID:10409502   PMID:10411502   PMID:10415326  
PMID:10421635   PMID:10431242   PMID:10433909   PMID:10457014   PMID:10471501   PMID:10482234   PMID:10498679   PMID:10499586   PMID:10500113   PMID:10500184   PMID:10512189   PMID:10516314  
PMID:10518210   PMID:10518490   PMID:10521397   PMID:10524628   PMID:10529425   PMID:10529434   PMID:10534614   PMID:10534616   PMID:10535967   PMID:10545241   PMID:10556296   PMID:10557208  
PMID:10559490   PMID:10572046   PMID:10572052   PMID:10579908   PMID:10585298   PMID:10586042   PMID:10589677   PMID:10603087   PMID:10603340   PMID:10603349   PMID:10625551   PMID:10642437  
PMID:10642790   PMID:10642791   PMID:10662638   PMID:10677508   PMID:10688202   PMID:10704389   PMID:10719888   PMID:10725236   PMID:10742113   PMID:10753507   PMID:10771469   PMID:10781055  
PMID:10802662   PMID:10804177   PMID:10804184   PMID:10804186   PMID:10804187   PMID:10809672   PMID:10821773   PMID:10835630   PMID:10843805   PMID:10882526   PMID:10887078   PMID:10899153  
PMID:10921901   PMID:10926756   PMID:10945466   PMID:10960786   PMID:10964471   PMID:10969736   PMID:10970885   PMID:10976045   PMID:10981962   PMID:10984614   PMID:10995442   PMID:11001584  
PMID:11002339   PMID:11017084   PMID:11017169   PMID:11023871   PMID:11023872   PMID:11029008   PMID:11042159   PMID:11044393   PMID:11044396   PMID:11044404   PMID:11050125   PMID:11060228  
PMID:11060242   PMID:11071781   PMID:11076756   PMID:11076861   PMID:11091071   PMID:11101845   PMID:11101846   PMID:11118883   PMID:11118884   PMID:11144352   PMID:11152636   PMID:11163266  
PMID:11165475   PMID:11171336   PMID:11171399   PMID:11172440   PMID:11178748   PMID:11180951   PMID:11217851   PMID:11287183   PMID:11287184   PMID:11290295   PMID:11290297   PMID:11291865  
PMID:11291866   PMID:11311154   PMID:11311163   PMID:11319862   PMID:11330864   PMID:11336497   PMID:11356033   PMID:11358868   PMID:11359461   PMID:11371349   PMID:11389830   PMID:11390666  
PMID:11401393   PMID:11412027   PMID:11430695   PMID:11437453   PMID:11440720   PMID:11456441   PMID:11476578   PMID:11476582   PMID:11485934   PMID:11486055   PMID:11493526   PMID:11493531  
PMID:11493558   PMID:11493571   PMID:11517919   PMID:11520664   PMID:11526078   PMID:11532916   PMID:11532923   PMID:11567616   PMID:11572986   PMID:11640898   PMID:11641221   PMID:11668679  
PMID:11684660   PMID:11702953   PMID:11709546   PMID:11711859   PMID:11714671   PMID:11724907   PMID:11738789   PMID:11744384   PMID:11748136   PMID:11748151   PMID:11748155   PMID:11758785  
PMID:11763995   PMID:11780064   PMID:11782449   PMID:11784004   PMID:11784021   PMID:11784060   PMID:11784093   PMID:11795391   PMID:11820816   PMID:11830575   PMID:11846474   PMID:11850178  
PMID:11850179   PMID:11850405   PMID:11884616   PMID:11886853   PMID:11892011   PMID:11900971   PMID:11932986   PMID:11943666   PMID:11955708   PMID:11959830   PMID:11960000   PMID:11964399  
PMID:11969262   PMID:11973269   PMID:11973281   PMID:11973284   PMID:12000792   PMID:12015293   PMID:12032320   PMID:12062060   PMID:12074550   PMID:12086465   PMID:12091315   PMID:12117807  
PMID:12117810   PMID:12118102   PMID:12118260   PMID:12135932   PMID:12140368   PMID:12142021   PMID:12142027   PMID:12152071   PMID:12154128   PMID:12161193   PMID:12163410   PMID:12163415  
PMID:12165511   PMID:12167401   PMID:12175489   PMID:12194849   PMID:12195432   PMID:12198547   PMID:12203737   PMID:12215652   PMID:12217322   PMID:12217324   PMID:12220708   PMID:12221011  
PMID:12223416   PMID:12231623   PMID:12231626   PMID:12351178   PMID:12354394   PMID:12361961   PMID:12361967   PMID:12361972   PMID:12372258   PMID:12372301   PMID:12376101   PMID:12385000  
PMID:12385751   PMID:12397105   PMID:12397106   PMID:12399319   PMID:12399320   PMID:12403705   PMID:12413903   PMID:12413905   PMID:12414734   PMID:12421714   PMID:12435353   PMID:12435361  
PMID:12435627   PMID:12435628   PMID:12435629   PMID:12441288   PMID:12441290   PMID:12455636   PMID:12455637   PMID:12461181   PMID:12464436   PMID:12466851   PMID:12477932   PMID:12502739  
PMID:12508227   PMID:12514186   PMID:12533514   PMID:12533516   PMID:12533796   PMID:12544841   PMID:12569124   PMID:12569128   PMID:12571105   PMID:12587916   PMID:12588849   PMID:12591596  
PMID:12592614   PMID:12595239   PMID:12615071   PMID:12626524   PMID:12629553   PMID:12645927   PMID:12646629   PMID:12646922   PMID:12648487   PMID:12648489   PMID:12648495   PMID:12649738  
PMID:12652306   PMID:12654299   PMID:12668638   PMID:12679031   PMID:12701101   PMID:12702649   PMID:12730123   PMID:12736217   PMID:12756179   PMID:12756228   PMID:12773389   PMID:12777630  
PMID:12781686   PMID:12781691   PMID:12782276   PMID:12783783   PMID:12805229   PMID:12808099   PMID: