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: 1174
Gene Symbol: AP1S1
AP1S1 		adaptor related protein complex 1 subunit sigma 1 0.743 0.308 1.0E-01
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 9419
Gene Symbol: CRIPT
CRIPT 		CXXC repeat containing interactor of PDZ3 domain 0.716 0.308 9.8E-04
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 23729
Gene Symbol: SHPK
SHPK 		sedoheptulokinase 0.743 0.346 1.0E-16
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1 		NECAP endocytosis associated 1 0.691 0.346 0.13
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2 		adaptor related protein complex 3 subunit beta 2 0.691 0.346 0.77
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3 		adenosine deaminase tRNA specific 3 0.736 0.385 5.6E-03
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 54928
Gene Symbol: IMPAD1
IMPAD1 		inositol monophosphatase domain containing 1 0.700 0.385 1.5E-02
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1 		trafficking kinesin protein 1 0.674 0.423 3.7E-04
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		SZT2 subunit of KICSTOR complex 0.670 0.423 2.3E-14
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 25973
Gene Symbol: PARS2
PARS2 		prolyl-tRNA synthetase 2, mitochondrial 0.644 0.423 4.1E-03
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 64801
Gene Symbol: ARV1
ARV1 		ARV1 homolog, fatty acid homeostasis modulator 0.691 0.423 3.6E-06
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		transcription factor 20 0.644 0.423 1.00
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4 		FERM and PDZ domain containing 4 0.674 0.423 1.00
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH 		electron transfer flavoprotein dehydrogenase 0.678 0.462 2.8E-13
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 23404
Gene Symbol: EXOSC2
EXOSC2 		exosome component 2 0.711 0.462 2.9E-06
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1 		potassium voltage-gated channel subfamily B member 1 0.650 0.462 1.00
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 818
Gene Symbol: CAMK2G
CAMK2G 		calcium/calmodulin dependent protein kinase II gamma 0.670 0.462 1.00
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 8443
Gene Symbol: GNPAT
GNPAT 		glyceronephosphate O-acyltransferase 0.663 0.462 0.30
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 129563
Gene Symbol: DIS3L2
DIS3L2 		DIS3 like 3'-5' exoribonuclease 2 0.647 0.500 0.94
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2 		gamma-aminobutyric acid type A receptor subunit beta2 0.619 0.500 0.85
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0