Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		disease 1.000 None 0.968 0 8 1962 2019
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		disease 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1844529
Disease: Midclavicular aplasia
Midclavicular aplasia 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1844530
Disease: Midclavicular hypoplasia
Midclavicular hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1844537
Disease: Cleft ala nasi
Cleft ala nasi 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1844555
Disease: Absent toenail
Absent toenail 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		disease 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0426807
Disease: Short clavicle
Short clavicle 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 0