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: 10161
Gene Symbol: LPAR6
LPAR6
lysophosphatidic acid receptor 6 0.678 0.385 7.1E-04
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D
phosphodiesterase 4D 0.519 0.846 1.00
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 5053
Gene Symbol: PAH
PAH
phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
solute carrier family 17 member 5 0.491 0.808 6.9E-10
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
phosphatidylinositol glycan anchor biosynthesis class N 0.558 0.615 2.3E-21
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 197131
Gene Symbol: UBR1
UBR1
ubiquitin protein ligase E3 component n-recognin 1 0.612 0.731 5.5E-03
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2 0.581 0.615 3.2E-07
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 131669
Gene Symbol: UROC1
UROC1
urocanate hydratase 1 0.780 0.385 2.1E-15
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0
Entrez Id: 8626
Gene Symbol: TP63
TP63
tumor protein p63 0.362 0.769 1.00
CUI: C1849221
Disease: Fair hair
Fair hair
phenotype 0.100 None 0 0