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: 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: 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: 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: 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: 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: 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: 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
Entrez Id: 50640
Gene Symbol: PNPLA8
PNPLA8
patatin like phospholipase domain containing 8 0.792 0.308 1.1E-02
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: 112812
Gene Symbol: FDX2
FDX2
ferredoxin 2 0.780 0.346 1.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 53
Gene Symbol: ACP2
ACP2
acid phosphatase 2, lysosomal 0.780 0.346 6.2E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 83480
Gene Symbol: PUS3
PUS3
pseudouridine synthase 3 0.780 0.346 1.4E-08
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: 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: 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: 5257
Gene Symbol: PHKB
PHKB
phosphorylase kinase regulatory subunit beta 0.769 0.269 1.6E-21
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: 5826
Gene Symbol: ABCD4
ABCD4
ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 85021
Gene Symbol: REPS1
REPS1
RALBP1 associated Eps domain containing 1 0.769 0.269 0.99
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: 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: 1781
Gene Symbol: DYNC1I2
DYNC1I2
dynein cytoplasmic 1 intermediate chain 2 0.760 0.385 1.1E-08
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 201595
Gene Symbol: STT3B
STT3B
STT3 oligosaccharyltransferase complex catalytic subunit B 0.760 0.385 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 2653
Gene Symbol: GCSH
GCSH
glycine cleavage system protein H 0.760 0.385 1.6E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0