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: 1103
Gene Symbol: CHAT
CHAT
choline O-acetyltransferase 0.520 0.808 5.6E-11
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.606 0.654 2.6E-03
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
solute carrier family 18 member A3 0.608 0.654 0.45
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
synaptosome associated protein 25 0.489 0.808 0.99
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
vesicle associated membrane protein 1 0.628 0.538 3.9E-03
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 7054
Gene Symbol: TH
TH
tyrosine hydroxylase 0.462 0.885 1.7E-06
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
lysine demethylase 6A 0.498 0.769 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
calcium voltage-gated channel subunit alpha1 B 0.650 0.577 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2
synaptotagmin 2 0.647 0.538 0.98
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1
collagen type XIII alpha 1 chain 0.608 0.654 3.7E-14
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
agrin 0.626 0.538 5.5E-07
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A
myosin IXA 0.647 0.500 0.49
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
peroxisomal biogenesis factor 13 0.597 0.654 5.9E-05
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5195
Gene Symbol: PEX14
PEX14
peroxisomal biogenesis factor 14 0.592 0.692 0.23
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
phosphatidylinositol glycan anchor biosynthesis class A 0.575 0.654 0.96
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0
Entrez Id: 9373
Gene Symbol: PLAA
PLAA
phospholipase A2 activating protein 0.597 0.692 0.47
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype 0.100 None 0 0