Source: HPO

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: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype 0.400 None 1.000 0 0 2006 2006
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.400 None 1.000 0 0 2006 2006
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.400 None 1.000 0 0 2006 2006
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1861141
Disease: Abnormality of the middle ear
Abnormality of the middle ear 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone 		disease 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		peptidase D 0.621 0.769 1.5E-14
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		phenotype 0.100 None 0 0