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: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 7
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 4 2010 2010
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 4 2017 2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 4 2017 2017
Entrez Id: 4191
Gene Symbol: MDH2
MDH2
malate dehydrogenase 2 0.595 0.731 6.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 3 2017 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 3
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 3
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 5 2 2014 2017
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
cathepsin A 0.619 0.731 5.9E-09
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 3 2 1996 2014
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
survival of motor neuron 1, telomeric 0.454 0.769 1.6E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 2 2 2007 2013
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
survival of motor neuron 2, centromeric 0.459 0.769 0.10
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 2 2 2007 2013
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
solute carrier family 19 member 3 0.610 0.692 0.10
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP
ATR interacting protein 0.666 0.692 2.0E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
myotubularin 1 0.573 0.731 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 2
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: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 2
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 2
Entrez Id: 6660
Gene Symbol: SOX5
SOX5
SRY-box transcription factor 5 0.545 0.769 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 2
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 2