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: 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: 790955
Gene Symbol: UQCC3
UQCC3
ubiquinol-cytochrome c reductase complex assembly factor 3 0.839 0.038 3.2E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
transmembrane protein 186 1.000 0.077 5.2E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
tRNA splicing endonuclease subunit 15 0.769 0.115 0.28
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: 51116
Gene Symbol: MRPS2
MRPS2
mitochondrial ribosomal protein S2 0.839 0.154 3.1E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 54931
Gene Symbol: TRMT10C
TRMT10C
tRNA methyltransferase 10C, mitochondrial RNase P subunit 0.839 0.154 9.7E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
GTP binding protein 3, mitochondrial 0.805 0.154 4.2E-09
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 11133
Gene Symbol: KPTN
KPTN
kaptin, actin binding protein 0.769 0.192 1.1E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 119559
Gene Symbol: SFXN4
SFXN4
sideroflexin 4 0.890 0.192 1.2E-07
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: 51095
Gene Symbol: TRNT1
TRNT1
tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 641371
Gene Symbol: ACOT1
ACOT1
acyl-CoA thioesterase 1 0.780 0.192 6.4E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 1
Entrez Id: 85300
Gene Symbol: ATCAY
ATCAY
ATCAY kinesin light chain interacting caytaxin 0.805 0.192 0.62
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 9512
Gene Symbol: PMPCB
PMPCB
peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2
iron-sulfur cluster assembly 2 0.743 0.231 2.4E-08
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
methyltransferase like 23 0.682 0.231 1.3E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
ferric chelate reductase 1 like 0.666 0.231 1.5E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3
bolA family member 3 0.760 0.231 0.15
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5283
Gene Symbol: PIGH
PIGH
phosphatidylinositol glycan anchor biosynthesis class H 0.760 0.231 0.23
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 54872
Gene Symbol: PIGG
PIGG
phosphatidylinositol glycan anchor biosynthesis class G 0.792 0.231 5.4E-15
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 55180
Gene Symbol: LINS1
LINS1
lines homolog 1 0.691 0.231 2.4E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5
tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 27010
Gene Symbol: TPK1
TPK1
thiamin pyrophosphokinase 1 0.792 0.269 9.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0