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: 1349
Gene Symbol: COX7B
COX7B 		cytochrome c oxidase subunit 7B 0.595 0.654 0.67
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 90381
Gene Symbol: TICRR
TICRR 		TOPBP1 interacting checkpoint and replication regulator 0.769 0.423 7.2E-14
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 1
Entrez Id: 8777
Gene Symbol: MPDZ
MPDZ 		multiple PDZ domain crumbs cell polarity complex component 0.638 0.500 5.8E-38
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 1
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 54892
Gene Symbol: NCAPG2
NCAPG2 		non-SMC condensin II complex subunit G2 0.603 0.731 0.98
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11 		NADH:ubiquinone oxidoreductase subunit B11 0.566 0.692 0.80
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		peroxisomal biogenesis factor 10 0.584 0.654 5.4E-04
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 51807
Gene Symbol: TUBA8
TUBA8 		tubulin alpha 8 0.691 0.385 3.6E-05
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 1
Entrez Id: 340075
Gene Symbol: ARSI
ARSI 		arylsulfatase family member I 0.656 0.615 6.0E-15
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 3052
Gene Symbol: HCCS
HCCS 		holocytochrome c synthase 0.559 0.731 0.89
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B 		lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease 0.100 None 0 0