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: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
disease 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1864375
Disease: Long hallux
Long hallux
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1863353
Disease: Hypoplastic vertebral bodies
Hypoplastic vertebral bodies
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1837098
Disease: Easy fatigability
Easy fatigability
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1836195
Disease: Short toe
Short toe
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1835580
Disease: Mild postnatal growth retardation
Mild postnatal growth retardation
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1834424
Disease: Profuse pigmented skin lesions
Profuse pigmented skin lesions
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1834421
Disease: Myxoid subcutaneous tumors
Myxoid subcutaneous tumors
disease 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
Narrow vertebral interpedicular distance
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1621895
Disease: Adrenal hyperplasia
Adrenal hyperplasia
disease 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
Increased susceptibility to fractures
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1850573
Disease: Slender build
Slender build
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
Abnormal form of the vertebral bodies
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
Disproportionate short-limb short stature
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis
phenotype 0.100 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.466 0.690 1.00
Neurogenic muscle atrophy, especially in the lower limbs
phenotype 0.100 0 0