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: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
Congenital ocular coloboma (disorder)
disease 0.400 strong 0 0 2009 2017
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C1835763
Disease: Vertebral body fusion
Vertebral body fusion
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C1839764
Disease: Broad flat nasal bridge
Broad flat nasal bridge
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C1842878
Disease: Short 5th finger
Short 5th finger
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C1849073
Disease: Fused vertebrae
Fused vertebrae
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C1854114
Disease: Short nose
Short nose
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C3278509
Disease: Spinal fusion
Spinal fusion
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C3887499
Disease: Renal cyst
Renal cyst
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C4020860
Disease: Supratentorial atrophy
Supratentorial atrophy
disease 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney
disease 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects
group 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C0019554
Disease: Hip Dislocation
Hip Dislocation
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C0022679
Disease: Cystic kidney
Cystic kidney
disease 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C0037932
Disease: Curvature of spine
Curvature of spine
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder
group 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype 0.100 0 0
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.672 0.379 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease 0.100 0 0