TP63 (tumor protein p63) - Rat Genome Database

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Gene: TP63 (tumor protein p63) Homo sapiens
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Symbol: TP63
Name: tumor protein p63
RGD ID: 1604844
HGNC Page HGNC:15979
Description: Enables several functions, including MDM2/MDM4 family protein binding activity; WW domain binding activity; and p53 binding activity. Involved in several processes, including negative regulation of cellular senescence; positive regulation of fibroblast apoptotic process; and regulation of DNA-templated transcription. Located in chromatin; cytoplasm; and nucleoplasm. Implicated in several diseases, including ADULT syndrome; EEC syndrome (multiple); ectodermal dysplasia (multiple); orofacial cleft 8; and split hand-foot malformation 4. Biomarker of cervix uteri carcinoma in situ; prostate carcinoma in situ; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AIS; amplified in squamous cell carcinoma; B(p51A); B(p51B); chronic ulcerative stomatitis protein; CUSP; EEC3; keratinocyte transcription factor KET; KET; LMS; NBP; OFC8; p40; p51; p53CP; p63; p73H; p73L; RHS; SHFM4; TP53CP; TP53L; TP73L; transformation-related protein 63; tumor protein 63; tumor protein p53-competing protein; tumor protein p53-like; tumor protein p63 deltaN isoform delta; tumor protein p73-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383189,596,746 - 189,897,276 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3189,631,389 - 189,897,276 (+)EnsemblGRCh38hg38GRCh38
GRCh373189,314,535 - 189,615,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363190,831,910 - 191,097,759 (+)NCBINCBI36Build 36hg18NCBI36
Celera3187,783,803 - 188,042,610 (+)NCBICelera
Cytogenetic Map3q28NCBI
HuRef3186,752,882 - 187,012,887 (+)NCBIHuRef
CHM1_13189,312,090 - 189,577,623 (+)NCBICHM1_1
T2T-CHM13v2.03192,413,470 - 192,713,713 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
adenocarcinoma  (EXP)
ADULT syndrome  (IAGP)
amenorrhea  (IAGP)
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  (EXP,IAGP)
autosomal recessive nonsyndromic deafness  (IAGP)
bladder exstrophy  (ISS)
bladder exstrophy-epispadias-cloacal exstrophy complex  (IAGP)
bone development disease  (IAGP)
breast disease  (EXP)
Breast Neoplasms  (ISO)
carcinoma  (EXP)
cervix uteri carcinoma in situ  (IEP)
cleft lip  (EXP,IAGP)
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8  (IAGP)
cleft palate  (EXP)
Colorectal Neoplasms  (EXP)
Congenital Foot Deformities  (EXP)
Congenital Hand Deformities  (EXP)
Congenital Limb Deformities  (EXP,IAGP)
Corneal Injuries  (ISO)
Craniofacial Abnormalities  (EXP)
ectodermal dysplasia  (IAGP)
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (EXP,IAGP)
EEC syndrome  (EXP,IAGP,ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Neoplasms  (ISO)
Female Urogenital Diseases  (EXP)
fissured tongue  (IAGP)
gastroesophageal reflux disease  (ISS)
genetic disease  (IAGP)
Limb-Mammary Syndrome  (EXP,IAGP)
lung adenocarcinoma  (EXP)
lung cancer  (IAGP)
Lung Neoplasms  (EXP)
Multiple Abnormalities  (EXP)
muscular dystrophy  (IAGP)
Neoplasm Metastasis  (EXP)
Neoplastic Cell Transformation  (EXP)
orofacial cleft 8  (IAGP)
Ovarian Neoplasms  (EXP,IAGP)
pancreatic cancer  (EXP)
primary ovarian insufficiency  (IAGP)
prostate cancer  (IAGP)
prostate carcinoma in situ  (IEP,ISO)
Prostatic Neoplasms  (IEP,ISO)
Rapp-Hodgkin syndrome  (EXP,IAGP)
schizophrenia  (IAGP)
Skin Abnormalities  (EXP)
split hand-foot malformation  (IAGP)
split hand-foot malformation 4  (EXP,IAGP)
squamous cell carcinoma  (EXP)
squamous cell neoplasm  (EXP)
Sweat Gland Neoplasms  (EXP)
transitional cell carcinoma  (IMP)
urinary bladder cancer  (IEP)
Urologic Neoplasms  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dibromoethane  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-dichloroaniline  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
4-vinylcyclohexene dioxide  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
antimonite  (EXP)
antirheumatic drug  (EXP)
apigenin  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butan-1-ol  (EXP)
butane-2,3-dione  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
camptothecin  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chrysin  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cycloheximide  (EXP)
diarsenic trioxide  (EXP)
dibenzo[a,l]pyrene  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
emodin  (ISO)
entinostat  (EXP)
ethanol  (EXP)
ethyl methanesulfonate  (EXP)
ethylenediaminetetraacetic acid  (EXP)
eugenol  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP)
Fusarenone X  (ISO)
genistein  (EXP,ISO)
glycidol  (ISO)
graphite  (ISO)
hydroxyurea  (ISO)
isobutanol  (EXP)
kaempferol  (EXP)
ketoconazole  (ISO)
lactacystin  (EXP)
lead diacetate  (ISO)
leptomycin B  (EXP)
lipopolysaccharide  (EXP)
lithium chloride  (EXP)
luteolin  (EXP)
melphalan  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
myricetin  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nickel dichloride  (EXP)
Octicizer  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
progesterone  (EXP)
quercetin  (EXP)
quercitrin  (EXP)
quinolin-8-ol  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sirolimus  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (IEA,ISO)
anatomical structure formation involved in morphogenesis  (IEA,ISO)
animal organ morphogenesis  (IEA,ISO)
apoptotic process  (IEA,ISO,TAS)
cell population proliferation  (IEA)
cellular response to DNA damage stimulus  (IDA)
cellular senescence  (IEA,ISO)
chromatin remodeling  (IEA,ISO)
cloacal septation  (IEA,ISO)
cranial skeletal system development  (IEA,ISO)
developmental process  (IEA)
ectoderm and mesoderm interaction  (IEA,ISO)
embryonic forelimb morphogenesis  (IEA,ISO)
embryonic hindlimb morphogenesis  (IEA,ISO)
embryonic limb morphogenesis  (IEA,ISO)
epidermal cell differentiation  (IEA,ISO)
epidermal cell division  (IEA,ISO)
epidermis development  (IEA,ISO)
epithelial cell apoptotic process  (ISO)
epithelial cell development  (IEA,ISO)
epithelial cell differentiation  (IEA,ISO)
establishment of planar polarity  (IEA,ISO)
establishment of skin barrier  (IEA,ISS)
female genitalia morphogenesis  (IEA,ISO)
hair follicle development  (IEA,ISO)
hair follicle morphogenesis  (IEA,ISO)
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  (IEA,ISO)
keratinocyte development  (ISO)
keratinocyte differentiation  (IEA,ISO)
keratinocyte proliferation  (IEA,ISO)
morphogenesis of a polarized epithelium  (IEA,ISO)
multicellular organism aging  (IEA,ISO)
negative regulation of cellular senescence  (IMP)
negative regulation of DNA-templated transcription  (IDA)
negative regulation of epithelial cell apoptotic process  (ISO)
negative regulation of intracellular estrogen receptor signaling pathway  (IEA)
negative regulation of keratinocyte differentiation  (IEA,ISO)
negative regulation of mesoderm development  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
neuron apoptotic process  (IEA,ISO)
Notch signaling pathway  (IEA,ISO)
obsolete cell aging  (IEA)
odontogenesis of dentin-containing tooth  (IEA,ISO)
pattern specification process  (IEA,ISO)
polarized epithelial cell differentiation  (IEA,ISO)
positive regulation of apoptotic signaling pathway  (IEA,ISO)
positive regulation of cell cycle G1/S phase transition  (IMP)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of DNA-templated transcription  (IDA,IEA,IMP,NAS)
positive regulation of fibroblast apoptotic process  (IDA)
positive regulation of keratinocyte proliferation  (IEA,ISO)
positive regulation of mesenchymal cell proliferation  (ISO)
positive regulation of Notch signaling pathway  (IDA,IEA,ISO)
positive regulation of osteoblast differentiation  (IMP)
positive regulation of somatic stem cell population maintenance  (IEA)
positive regulation of stem cell proliferation  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISO)
post-anal tail morphogenesis  (IEA,ISO)
prostate gland development  (IEA,ISO)
prostatic bud formation  (IEA,ISO)
protein tetramerization  (IEA)
proximal/distal pattern formation  (IEA,ISO)
regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IEA,ISO)
regulation of DNA-templated transcription  (IEA)
regulation of epidermal cell division  (IEA,ISS)
regulation of transcription by RNA polymerase II  (IBA)
skeletal system development  (IEA,ISO)
skin epidermis development  (IEA,ISO)
skin morphogenesis  (IEA,ISO)
smooth muscle tissue development  (ISO)
spermatogenesis  (IEA,ISO)
squamous basal epithelial stem cell differentiation involved in prostate gland acinus development  (IEA,ISO)
stem cell differentiation  (IEA,ISO)
stem cell proliferation  (IEA,ISO)
sympathetic nervous system development  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
urinary bladder development  (ISO)

Cellular Component
chromatin  (IDA,ISA)
cytoplasm  (IDA,IEA)
dendrite  (IEA,ISO)
neuron projection  (IEA,ISO)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA,ISO,NAS)
protein-containing complex  (IEA,ISO)
rough endoplasmic reticulum  (IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe cutaneous syndactyly  (IAGP)
2-3 toe syndactyly  (IAGP)
3-4 finger cutaneous syndactyly  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal Eustachian tube morphology  (IAGP)
Abnormal nasal septum morphology  (IAGP)
Abnormal nasopharynx morphology  (IAGP)
Abnormal number of permanent teeth  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormality of dental eruption  (IAGP)
Abnormality of dental morphology  (IAGP)
Abnormality of masticatory muscle  (IAGP)
Abnormality of the anus  (IAGP)
Abnormality of the clitoris  (IAGP)
Abnormality of the inner ear  (IAGP)
Abnormality of the middle ear  (IAGP)
Abnormality of the nervous system  (IAGP)
Absence of Stensen duct  (IAGP)
Absent eyelashes  (IAGP)
Absent hand  (IAGP)
Absent lacrimal punctum  (IAGP)
Absent nipple  (IAGP)
Adermatoglyphia  (IAGP)
Agenesis of lateral incisor  (IAGP)
Alopecia  (IAGP)
Alopecia of scalp  (IAGP)
Amniotic constriction ring  (IAGP)
Anal stenosis  (IAGP)
Anhidrotic ectodermal dysplasia  (IAGP)
Aniridia  (IAGP)
Ankyloblepharon  (IAGP)
Anonychia  (IAGP)
Anteriorly placed anus  (IAGP)
Aplasia of the ovary  (IAGP)
Aplasia of the uterus  (IAGP)
Aplasia/Hypoplasia involving the metacarpal bones  (IAGP)
Aplasia/Hypoplasia of metatarsal bones  (IAGP)
Aplasia/Hypoplasia of the breasts  (IAGP)
Aplasia/Hypoplasia of the nipples  (IAGP)
Aplasia/Hypoplasia of the phalanges of the hand  (IAGP)
Aplasia/Hypoplasia of the phalanges of the toes  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Aplasia/Hypoplasia of the thumb  (IAGP)
Atresia of the external auditory canal  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Bilateral breast hypoplasia  (IAGP)
Bilateral choanal atresia  (IAGP)
Bilateral cleft lip  (IAGP)
Bilateral cleft palate  (IAGP)
Bladder diverticulum  (IAGP)
Bladder exstrophy  (IAGP)
Blepharitis  (IAGP)
Blepharophimosis  (IAGP)
Blue irides  (IAGP)
Bowel incontinence  (IAGP)
Breast aplasia  (IAGP)
Breast hypoplasia  (IAGP)
Camptodactyly  (IAGP)
Carious teeth  (IAGP)
Central diabetes insipidus  (IAGP)
Childhood onset  (IAGP)
Choanal atresia  (IAGP)
Chronic irritative conjunctivitis  (IAGP)
Chronic otitis media  (IAGP)
Cleft hard palate  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse hair  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Conical tooth  (IAGP)
Conjunctivitis  (IAGP)
Corneal erosion  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Dacryocystitis  (IAGP)
Decreased number of sweat glands  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Delayed speech and language development  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal tip  (IAGP)
Dermal atrophy  (IAGP)
Disturbance of facial expression  (IAGP)
Dry skin  (IAGP)
Duplicated collecting system  (IAGP)
Dysphagia  (IAGP)
Ectodermal dysplasia  (IAGP)
Ectrodactyly  (IAGP)
Eczema  (IAGP)
Enamel hypoplasia  (IAGP)
Entropion  (IAGP)
Epispadias  (IAGP)
External ear malformation  (IAGP)
Facial hirsutism  (IAGP)
Fair hair  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Fingernail dysplasia  (IAGP)
Freckling  (IAGP)
Furrowed tongue  (IAGP)
Generalized hypopigmentation  (IAGP)
Hallux valgus  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hyperconvex nail  (IAGP)
Hyperkeratosis  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypodontia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the thymus  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic nipples  (IAGP)
Hypoplastic sacrum  (IAGP)
Hypospadias  (IAGP)
Impaired mastication  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Joint contracture of the hand  (IAGP)
Keratitis  (IAGP)
Lacrimal duct atresia  (IAGP)
Lacrimal duct stenosis  (IAGP)
Lacrimation abnormality  (IAGP)
Lip pit  (IAGP)
Low self esteem  (IAGP)
Lymphoma  (IAGP)
Macrodontia  (IAGP)
Malar flattening  (IAGP)
Malnutrition  (IAGP)
Maternal teratogenic exposure  (IAGP)
Megacystis  (IAGP)
Melanocytic nevus  (IAGP)
Microdontia  (IAGP)
Micropenis  (IAGP)
Microtia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Muscular dystrophy  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Nail pits  (IAGP)
Narrow mouth  (IAGP)
Narrow nose  (IAGP)
Nasal speech  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Nasolacrimal duct obstruction  (IAGP)
Nevus  (IAGP)
Non-midline cleft lip  (IAGP)
Oligodactyly  (IAGP)
Oligodontia  (IAGP)
Omphalocele  (IAGP)
Onychogryposis  (IAGP)
Oral cleft  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Oval face  (IAGP)
Palate fistula  (IAGP)
Palmoplantar keratoderma  (IAGP)
Patchy alopecia  (IAGP)
Patent ductus arteriosus  (IAGP)
Peg-shaped maxillary lateral incisors  (IAGP)
Photophobia  (IAGP)
Pili canaliculi  (IAGP)
Polyhydramnios  (IAGP)
Poor suck  (IAGP)
Premature loss of permanent teeth  (IAGP)
Premature ovarian insufficiency  (IAGP)
Primary amenorrhea  (IAGP)
Progressive alopecia  (IAGP)
Prominent nasal bridge  (IAGP)
Prostate cancer  (IAGP)
Protruding ear  (IAGP)
Proximal placement of thumb  (IAGP)
Psoriasiform dermatitis  (IAGP)
Ptosis  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent urinary tract infections  (IAGP)
Renal agenesis  (IAGP)
Renal dysplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Schizophrenia  (IAGP)
Selective tooth agenesis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Situs inversus totalis  (IAGP)
Skeletal dysplasia  (IAGP)
Skin ulcer  (IAGP)
Slow-growing hair  (IAGP)
Small for gestational age  (IAGP)
Small nail  (IAGP)
Small, conical teeth  (IAGP)
Sparse axillary hair  (IAGP)
Sparse body hair  (IAGP)
Sparse eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Sparse pubic hair  (IAGP)
Sparse scalp hair  (IAGP)
Specific learning disability  (IAGP)
Speech articulation difficulties  (IAGP)
Split foot  (IAGP)
Split hand  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Submucous cleft soft palate  (IAGP)
Supernumerary maxillary incisor  (IAGP)
Supernumerary nipple  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Taurodontia  (IAGP)
Thick eyebrow  (IAGP)
Thin skin  (IAGP)
Toe syndactyly  (IAGP)
Toenail dysplasia  (IAGP)
Tooth agenesis  (IAGP)
Transverse vaginal septum  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Uncombable hair  (IAGP)
Underdeveloped nasal alae  (IAGP)
Unilateral cleft palate  (IAGP)
Ureterocele  (IAGP)
Urethral atresia  (IAGP)
Urethral stenosis  (IAGP)
Vaginal dryness  (IAGP)
Velopharyngeal insufficiency  (IAGP)
Ventricular septal defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced teeth  (IAGP)
Xerostomia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. Alves LU, etal., Genet Mol Biol. 2015 Mar;38(1):37-41. doi: 10.1590/S1415-475738120140125. Epub 2014 Mar 17.
2. Proliferation and apoptotic rates and increased frequency of p63-positive cells in the prostate acinar epithelium of alloxan-induced diabetic rats. Arcolino FO, etal., Int J Exp Pathol. 2010 Apr;91(2):144-54. doi: 10.1111/j.1365-2613.2009.00696.x. Epub 2009 Dec 22.
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15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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20. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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