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: 56479
Gene Symbol: KCNQ5
KCNQ5
potassium voltage-gated channel subfamily Q member 5 0.686 0.500 0.98
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5625
Gene Symbol: PRODH
PRODH
proline dehydrogenase 1 0.612 0.692 5.4E-12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 55750
Gene Symbol: AGK
AGK
acylglycerol kinase 0.650 0.654 6.0E-09
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14
myotubularin related protein 14 0.674 0.615 1.4E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1
succinate dehydrogenase complex assembly factor 1 0.656 0.462 8.7E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
SIL1 nucleotide exchange factor 0.584 0.731 1.2E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
signaling receptor and transporter of retinol STRA6 0.597 0.731 1.5E-10
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6418
Gene Symbol: SET
SET
SET nuclear proto-oncogene 0.507 0.808 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
methylcrotonoyl-CoA carboxylase 2 0.674 0.423 4.5E-11
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 64849
Gene Symbol: SLC13A3
SLC13A3
solute carrier family 13 member 3 0.821 0.308 9.5E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 64857
Gene Symbol: PLEKHG2
PLEKHG2
pleckstrin homology and RhoGEF domain containing G2 0.705 0.423 1.4E-09
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
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: 65125
Gene Symbol: WNK1
WNK1
WNK lysine deficient protein kinase 1 0.416 0.846 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4
solute carrier family 1 member 4 0.700 0.385 6.6E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3
solute carrier family 1 member 3 0.573 0.577 0.99
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0