KRAS (KRAS proto-oncogene, GTPase) - Rat Genome Database

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Gene: KRAS (KRAS proto-oncogene, GTPase) Homo sapiens
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Symbol: KRAS
Name: KRAS proto-oncogene, GTPase
RGD ID: 1350859
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Involved in positive regulation of cell population proliferation; positive regulation of macromolecule metabolic process; and regulation of protein stability. Localizes to cytoplasm and extrinsic component of cytoplasmic side of plasma membrane. Implicated in several diseases, including Noonan syndrome (multiple); arteriovenous malformations of the brain; cardiofaciocutaneous syndrome (multiple); gastrointestinal system cancer (multiple); and hematologic cancer (multiple). Biomarker of carcinoma (multiple) and high grade glioma (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 'C-K-RAS; C-K-RAS; c-Ki-ras; c-Ki-ras2; c-Kirsten-ras protein; cellular c-Ki-ras2 proto-oncogene; cellular transforming proto-oncogene; CFC2; GTPase KRas; K-Ras; K-Ras 2; K-ras p21 protein; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; KI-RAS; Kirsten rat sarcoma viral oncogene homolog; Kirsten rat sarcoma viral proto-oncogene; Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog; KRAS1; KRAS2; NS; NS3; OES; oncogene KRAS2; PR310 c-K-ras oncogene; RALD; RASK2; transforming protein p21; v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog; v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: KRASP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1225,205,246 - 25,250,936 (-)EnsemblGRCh38hg38GRCh38
GRCh381225,205,246 - 25,250,929 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371225,358,180 - 25,403,863 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361225,249,447 - 25,295,121 (-)NCBINCBI36hg18NCBI36
Build 341225,249,446 - 25,295,121NCBI
Celera1230,505,144 - 30,550,804 (-)NCBI
Cytogenetic Map12p12.1NCBI
HuRef1225,128,895 - 25,174,493 (-)NCBIHuRef
CHM1_11225,322,879 - 25,368,990 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute lymphoblastic leukemia  (IAGP)
acute myeloid leukemia  (IAGP)
adenocarcinoma  (EXP)
adenoid cystic carcinoma  (IAGP)
adenoma  (EXP)
adult hepatocellular carcinoma  (IAGP)
anaplastic astrocytoma  (IEP)
anemia  (EXP)
angiosarcoma  (EXP,IAGP)
Animal Disease Models  (EXP)
arteriovenous malformations of the brain  (IAGP)
autoimmune lymphoproliferative syndrome type 4  (IAGP)
B-Cell Chronic Lymphocytic Leukemia  (IAGP)
bladder urothelial carcinoma  (IAGP)
breast adenocarcinoma  (IAGP)
breast cancer  (IAGP)
Breast Cancer, Familial  (IAGP)
Breast Neoplasms  (EXP,IAGP)
bronchiolo-alveolar adenocarcinoma  (ISO)
Carcinogenesis  (EXP)
carcinoma  (EXP)
cardiofaciocutaneous syndrome  (EXP,IAGP)
cardiofaciocutaneous syndrome 1  (IAGP)
cardiofaciocutaneous syndrome 2  (IAGP)
cardiomyopathy  (ISO)
Cecal Neoplasms  (EXP)
cholangiocarcinoma  (EXP)
chronic lymphocytic leukemia  (IAGP)
Colonic Neoplasms  (EXP)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (EXP,IAGP,ISO)
Costello syndrome  (EXP)
dilated cardiomyopathy  (ISO)
disease of cellular proliferation  (EXP)
Disease Progression  (EXP)
endometrial adenocarcinoma  (ISO)
endometrial cancer  (IAGP)
endometrial carcinoma  (IAGP)
endometrial hyperplasia  (IAGP)
Endometrial Neoplasms  (IAGP,TAS)
Endometrioid Carcinomas  (IAGP)
endometriosis  (EXP)
epidermal nevus  (IAGP)
esophageal carcinoma  (IAGP)
Experimental Liver Neoplasms  (EXP)
Experimental Neoplasms  (EXP)
Experimental Pancreatitis, Acute  (ISO)
Experimental Sarcoma  (ISO)
fibrillary astrocytoma  (IEP)
gallbladder cancer  (IAGP)
Gallbladder Neoplasms  (EXP)
gastric adenocarcinoma  (IAGP)
gastrointestinal stromal tumor  (IAGP)
genetic disease  (IAGP)
glioblastoma  (IEP,ISO)
hepatocellular adenoma  (ISO)
hepatocellular carcinoma  (EXP,IAGP,IEP,ISO)
hereditary breast ovarian cancer syndrome  (IAGP)
hereditary diffuse gastric cancer  (IAGP)
high grade glioma  (IEP,ISO)
hypertension  (ISO)
intellectual disability  (IAGP)
intrahepatic cholangiocarcinoma  (IAGP,ISS)
juvenile myelomonocytic leukemia  (EXP,IAGP)
juvenile rheumatoid arthritis  (EXP)
Kidney Neoplasms  (ISO)
Klatskin's tumor  (IAGP)
Leukocytosis  (EXP)
linear nevus sebaceous syndrome  (EXP,IAGP)
Liver Neoplasms  (EXP)
lung adenocarcinoma  (EXP,IAGP)
lung cancer  (IAGP,IEA,ISS)
lung carcinoma  (IAGP)
Lung Neoplasms  (EXP,IAGP,ISO)
lung non-small cell carcinoma  (EXP,IAGP,TAS)
lung squamous cell carcinoma  (IAGP)
lymphoma  (EXP)
malignant astrocytoma  (EXP,IAGP,ISO)
melanoma  (IAGP)
Mouth Neoplasms  (EXP)
Multiple Abnormalities  (IAGP)
multiple myeloma  (IAGP)
myelodysplastic syndrome  (EXP)
myeloid neoplasm  (ISO)
myeloid sarcoma  (IMP)
Neoplasm Metastasis  (EXP,IAGP,ISO)
Neoplastic Cell Transformation  (EXP)
neuroblastoma  (EXP)
Noonan syndrome  (EXP,IAGP,ISO)
Noonan syndrome 3  (IAGP)
oculoectodermal syndrome  (IAGP)
Ovarian Neoplasms  (EXP,IAGP)
ovary serous adenocarcinoma  (IAGP)
pancreatic adenocarcinoma  (IAGP)
pancreatic cancer  (EXP,IAGP,IDA,TAS)
pancreatic carcinoma  (IAGP,IEA,ISS)
pancreatic ductal carcinoma  (EXP)
pancreatic mucinous cystadenoma  (IAGP)
Paraproteinemias  (IAGP)
Parasitic Liver Diseases  (EXP)
Penile Neoplasms  (EXP)
pilocytic astrocytoma  (IAGP)
plasma cell neoplasm  (IAGP)
plasmacytoma  (IAGP)
prostate cancer  (ISS)
prostate carcinoma in situ  (ISO)
Prostatic Neoplasms  (EXP,ISO)
RASopathy  (IAGP)
Recurrence  (EXP)
renal cell carcinoma  (IEP)
renal fibrosis  (ISO)
Sebaceous Nevus Syndrome and Hemimegalencephaly  (IAGP)
seminoma  (IAGP)
skin melanoma  (IAGP)
Splenomegaly  (EXP)
squamous cell carcinoma  (EXP)
stomach carcinoma  (IAGP)
Stomach Neoplasms  (EXP,IAGP)
T-cell acute lymphoblastic leukemia  (ISO)
thyroid gland follicular carcinoma  (EXP)
thyroid gland medullary carcinoma  (IAGP)
Thyroid Neoplasms  (EXP,IAGP)
transitional cell carcinoma  (IAGP,IEP)
Triple Negative Breast Neoplasms  (EXP)
urinary bladder cancer  (EXP,IAGP)
Urinary Bladder Neoplasm  (IAGP)
uterine cancer  (IAGP)
Uterine Cervical Neoplasms  (IAGP)
Uterine Neoplasms  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(trichloromethyl)benzene  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-nitropyrene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2-Bis(bromomethyl)propane-1,3-diol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-trans,6-trans-farnesyl diphosphate  (ISO)
3-methyl-3H-imidazo[4,5-f]quinolin-2-amine  (ISO)
3-methylcholanthrene  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-vinylcyclohexene dioxide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-Methylchrysene  (ISO)
acrolein  (EXP)
actinomycin D  (EXP)
afimoxifene  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
asbestos  (EXP)
Benz[j]aceanthrylene  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cannabidiol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
ceruletide  (ISO)
chloroethene  (EXP,ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chymostatin  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cobimetinib  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
coumestrol  (EXP)
crizotinib  (EXP)
cumene  (ISO)
curcumin  (EXP,ISO)
cycloheximide  (EXP)
Cyclopenta[cd]pyrene  (ISO)
dabrafenib  (EXP)
dextran sulfate  (ISO)
dibenzo[a,l]pyrene  (ISO)
dichlorine  (ISO)
diclofenac  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
erlotinib hydrochloride  (EXP)
ethanol  (ISO)
farnesyl diphosphate  (ISO)
flutamide  (ISO)
folic acid  (ISO)
GDP  (EXP)
gefitinib  (EXP)
genistein  (EXP)
gentamycin  (ISO)
geraniol  (ISO)
GTP  (EXP)
guanosine  (EXP)
haloperidol  (ISO)
hydroquinone  (EXP)
hydroxyurea  (ISO)
ionomycin  (EXP)
irbesartan  (EXP,ISO)
isoprenaline  (ISO)
isoprene  (ISO)
isotretinoin  (EXP)
kainic acid  (ISO)
lapatinib  (EXP)
lead diacetate  (EXP,ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
lipopolysaccharide  (ISO)
losartan  (EXP)
lovastatin  (EXP,ISO)
Manumycin A  (EXP)
MeIQx  (ISO)
mercury dibromide  (EXP)
metformin  (EXP)
methohexital  (EXP)
methotrexate  (EXP)
monosodium L-glutamate  (ISO)
N,N-bis(2-hydroxypropyl)nitrosamine  (ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nicotinic acid  (ISO)
ochratoxin A  (EXP)
oxirane  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
PD 0325901  (EXP,ISO)
pemetrexed  (EXP)
pentobarbital  (EXP)
phlorizin  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
picrotoxin  (ISO)
piperonyl butoxide  (EXP)
pirinixic acid  (EXP)
quercetin  (EXP)
Rebamipide  (ISO)
resveratrol  (EXP,ISO)
riddelliine  (ISO)
SB 431542  (EXP)
secobarbital  (EXP)
selumetinib  (EXP)
simvastatin  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
styrene  (ISO)
sulfur dioxide  (ISO)
sulindac  (EXP)
tacrolimus hydrate  (ISO)
Tanshinone I  (EXP)
Temsirolimus  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
Tetranitromethane  (ISO)
thiamylal  (EXP)
thimerosal  (EXP)
tiazofurine  (EXP)
tipifarnib  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trimetrexate  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
urethane  (EXP,ISO)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
vemurafenib  (EXP)
vinyl carbamate  (ISO)
zearalenone  (ISO)
zidovudine  (ISO)
zinc protoporphyrin  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal cartilage morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal eyelash morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal hair quantity  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal heart valve morphology  (IAGP)
Abnormal nasolacrimal system morphology  (IAGP)
Abnormal platelet function  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of dental color  (IAGP)
Abnormality of dental morphology  (IAGP)
Abnormality of facial skeleton  (IAGP)
Abnormality of finger  (IAGP)
Abnormality of higher mental function  (IAGP)
Abnormality of the bladder  (IAGP)
Abnormality of the spleen  (IAGP)
Abnormality of the ulna  (IAGP)
Abnormality of the ureter  (IAGP)
Abnormality of toe  (IAGP)
Abnormality of vision  (IAGP)
Absent eyebrow  (IAGP)
Absent septum pellucidum  (IAGP)
Acute myeloid leukemia  (IAGP)
Adenoma sebaceum  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agnosia  (IAGP)
Alopecia  (IAGP)
Alveolar cell carcinoma  (IAGP)
Amaurosis fugax  (IAGP)
Angiosarcoma  (IAGP)
Anisometropia  (IAGP)
Anorexia  (IAGP)
Anteverted nares  (IAGP)
Anxiety  (IAGP)
Aortic valve stenosis  (IAGP)
Aphasia  (IAGP)
Aplasia cutis congenita  (IAGP)
Aplasia of the semicircular canal  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Arachnoid cyst  (IAGP)
Arrhythmia  (IAGP)
Astigmatism  (IAGP)
Asymmetric growth  (IAGP)
Atrial septal defect  (IAGP)
Atrial septal dilatation  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Back pain  (IAGP)
Basal cell carcinoma  (IAGP)
Benign neoplasm of the central nervous system  (IAGP)
Biparietal narrowing  (IAGP)
Bladder exstrophy  (IAGP)
Bladder neoplasm  (IAGP)
Blepharophimosis  (IAGP)
Bone cyst  (IAGP)
Brachydactyly  (IAGP)
Breast carcinoma  (IAGP)
Brittle hair  (IAGP)
Broad forehead  (IAGP)
Capillary hemangioma  (IAGP)
Cardiac diverticulum  (IAGP)
Cavernous hemangioma  (IAGP)
Cerebral arteriovenous malformation  (IAGP)
Cerebral calcification  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chronic atrophic gastritis  (IAGP)
Chronic fatigue  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Coarse facial features  (IAGP)
Coarse hair  (IAGP)
Coloboma  (IAGP)
Colon cancer  (IAGP)
Constipation  (IAGP)
Corneal opacity  (IAGP)
Cranial asymmetry  (IAGP)
Craniofacial hyperostosis  (IAGP)
Cryptorchidism  (IAGP)
Cubitus valgus  (IAGP)
Curly hair  (IAGP)
Cystic hygroma  (IAGP)
Dandy-Walker malformation  (IAGP)
Death in early adulthood  (IAGP)
Death in infancy  (IAGP)
Decreased lymphocyte apoptosis  (IAGP)
Deep palmar crease  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Depressivity  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dysgraphia  (IAGP)
Dyskinesia  (IAGP)
Dysostosis multiplex  (IAGP)
Dysphasia  (IAGP)
Dystrophic fingernails  (IAGP)
Echolalia  (IAGP)
EEG abnormality  (IAGP)
Elevated hepatic transaminase  (IAGP)
Endometrial carcinoma  (IAGP)
Enlarged thorax  (IAGP)
Epicanthus  (IAGP)
Epidermal nevus  (IAGP)
Epispadias  (IAGP)
Esophageal carcinoma  (IAGP)
Excessive wrinkled skin  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Extrahepatic cholestasis  (IAGP)
Eyelid coloboma  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Fatigue  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fine hair  (IAGP)
Flexion contracture  (IAGP)
Follicular hyperplasia  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Functional intestinal obstruction  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized hyperpigmentation  (IAGP)
Genu recurvatum  (IAGP)
Genu valgum  (IAGP)
Glioblastoma multiforme  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Growth delay  (IAGP)
Hallucinations  (IAGP)
Hearing impairment  (IAGP)
Hemangioma  (IAGP)
Hemihypertrophy  (IAGP)
Hemimegalencephaly  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hemolytic anemia  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Heterogeneous  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hyperactivity  (IAGP)
Hyperextensible skin  (IAGP)
Hyperphosphaturia  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypophosphatemic rickets  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypoplastic nasal bridge  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Increased circulating antibody level  (IAGP)
Increased intracranial pressure  (IAGP)
Increased level of L-fucose in urine  (IAGP)
Intellectual disability  (IAGP)
Intermittent diarrhea  (IAGP)
Interrupted aortic arch  (IAGP)
Intestinal polyposis  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Iris coloboma  (IAGP)
Irregular hyperpigmentation  (IAGP)
Irritability  (IAGP)
Jaundice  (IAGP)
Joint hyperflexibility  (IAGP)
Juvenile myelomonocytic leukemia  (IAGP)
Kyphoscoliosis  (IAGP)
Laryngeal hypoplasia  (IAGP)
Leukemia  (IAGP)
Limbal dermoid  (IAGP)
Linear nevus sebaceous  (IAGP)
Lipodystrophy  (IAGP)
Long face  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lower limb asymmetry  (IAGP)
Lung adenocarcinoma  (IAGP)
Lymphadenopathy  (IAGP)
Lymphedema  (IAGP)
Lymphocytosis  (IAGP)
Lymphoma  (IAGP)
Lymphoproliferative disorder  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Malabsorption  (IAGP)
Medullary thyroid carcinoma  (IAGP)
Melanocytic nevus  (IAGP)
Melanoma  (IAGP)
Memory impairment  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Migraine  (IAGP)
Mitral valve prolapse  (IAGP)
Monocytosis  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Multiple lentigines  (IAGP)
Multiple lipomas  (IAGP)
Multiple myeloma  (IAGP)
Muscle stiffness  (IAGP)
Muscle weakness  (IAGP)
Mutism  (IAGP)
Myopia  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neoplasm of the liver  (IAGP)
Neoplasm of the pancreas  (IAGP)
Neoplasm of the rectum  (IAGP)
Neoplasm of the skeletal system  (IAGP)
Neoplasm of the stomach  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Neuroblastoma  (IAGP)
Neutropenia  (IAGP)
Nevus flammeus  (IAGP)
Nevus sebaceous  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Nystagmus  (IAGP)
Opacification of the corneal stroma  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Osteochondrosis  (IAGP)
Osteolysis  (IAGP)
Osteopenia  (IAGP)
Ovarian carcinoma  (IAGP)
Ovarian neoplasm  (IAGP)
Overgrowth  (IAGP)
Palmoplantar keratoderma  (IAGP)
Pancreatic adenocarcinoma  (IAGP)
Pancytopenia  (IAGP)
Paralysis  (IAGP)
Paresthesia  (IAGP)
Parietal bossing  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peritoneal abscess  (IAGP)
Pilocytic astrocytoma  (IAGP)
Pituitary adenoma  (IAGP)
Plagiocephaly  (IAGP)
Polyhydramnios  (IAGP)
Poor appetite  (IAGP)
Porencephalic cyst  (IAGP)
Posteriorly rotated ears  (IAGP)
Precocious puberty  (IAGP)
Premature birth  (IAGP)
Prominent occiput  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary artery stenosis  (IAGP)
Pulmonic stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Recurrent fractures  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced tendon reflexes  (IAGP)
Redundant skin  (IAGP)
Retinopathy  (IAGP)
Rigidity  (IAGP)
Sagittal craniosynostosis  (IAGP)
Scaphocephaly  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Slow-growing hair  (IAGP)
Somatic mosaicism  (IAGP)
Somatic mutation  (IAGP)
Sparse hair  (IAGP)
Sparse or absent eyelashes  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Sporadic  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Stomach cancer  (IAGP)
Strabismus  (IAGP)
Subcortical cerebral atrophy  (IAGP)
Subcutaneous nodule  (IAGP)
Submucous cleft hard palate  (IAGP)
Supernumerary nipple  (IAGP)
Telecanthus  (IAGP)
Tetraplegia  (IAGP)
Thick lower lip vermilion  (IAGP)
Thickened helices  (IAGP)
Thickened nuchal skin fold  (IAGP)
Transient ischemic attack  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Triangular face  (IAGP)
Tricuspid valve prolapse  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Urinary tract neoplasm  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vertebral segmentation defect  (IAGP)
Visceral angiomatosis  (IAGP)
Visual field defect  (IAGP)
Webbed neck  (IAGP)
Weight loss  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
Xanthomatosis  (IAGP)
References

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