Source: INFERRED

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: 9409
Gene Symbol: PEX16
PEX16
peroxisomal biogenesis factor 16 0.597 0.615 8.3E-05
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2
multiple C2 and transmembrane domain containing 2 0.623 0.577 6.0E-52
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
transmembrane protein 70 0.636 0.654 2.9E-02
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 5195
Gene Symbol: PEX14
PEX14
peroxisomal biogenesis factor 14 0.592 0.692 0.23
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
peroxisomal biogenesis factor 13 0.597 0.654 5.9E-05
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 6228
Gene Symbol: RPS23
RPS23
ribosomal protein S23 0.700 0.500 0.86
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
neurexin 1 0.581 0.692 1.00
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
ubiquitin protein ligase E3B 0.590 0.692 4.2E-08
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1
dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B
peroxisomal biogenesis factor 11 beta 0.612 0.654 1.3E-04
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 8504
Gene Symbol: PEX3
PEX3
peroxisomal biogenesis factor 3 0.595 0.731 1.6E-02
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 84942
Gene Symbol: WDR73
WDR73
WD repeat domain 73 0.610 0.500 2.8E-09
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 7421
Gene Symbol: VDR
VDR
vitamin D receptor 0.352 0.885 1.7E-05
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
peroxisomal biogenesis factor 10 0.584 0.654 5.4E-04
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
cytochrome P450 family 27 subfamily B member 1 0.502 0.769 1.9E-07
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype 0.100 None 0 0