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: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
ATPase H+ transporting V0 subunit a2 0.570 0.692 2.6E-11
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
zinc finger E-box binding homeobox 2 0.471 0.808 1.00
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
KIAA0586 0.565 0.731 5.1E-16
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 1
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 6913
Gene Symbol: TBX15
TBX15
T-box transcription factor 15 0.603 0.500 0.66
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 55697
Gene Symbol: VAC14
VAC14
VAC14 component of PIKFYVE complex 0.588 0.731 0.19
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 1
Entrez Id: 55165
Gene Symbol: CEP55
CEP55
centrosomal protein 55 0.534 0.731 2.0E-12
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1
ATPase H+ transporting V1 subunit E1 0.610 0.769 0.53
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
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: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 51021
Gene Symbol: MRPS16
MRPS16
mitochondrial ribosomal protein S16 0.821 0.231 5.8E-02
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin
phenotype 0.100 None 0 0