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: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B
myosin XVIIIB 0.628 0.615 1.0E-31
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 124093
Gene Symbol: CCDC78
CCDC78
coiled-coil domain containing 78 0.760 0.115 3.0E-31
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
fucose kinase 0.769 0.192 1.0E-29
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.400 moderate 1.000 0 0 2018 2018
Entrez Id: 399671
Gene Symbol: HEATR4
HEATR4
HEAT repeat containing 4 1.4E-29
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12
serine protease 12 0.682 0.308 8.4E-29
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 9851
Gene Symbol: KIAA0753
KIAA0753
KIAA0753 0.631 0.577 1.6E-28
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
glycine decarboxylase 0.628 0.577 6.6E-28
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
dedicator of cytokinesis 6 0.610 0.577 1.3E-26
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 23065
Gene Symbol: EMC1
EMC1
ER membrane protein complex subunit 1 0.700 0.462 6.7E-26
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 2
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1
cytochrome P450 family 24 subfamily A member 1 0.518 0.692 3.2E-23
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
chloride voltage-gated channel Kb 0.593 0.692 1.4E-22
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0