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: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.555 0.586 1.1E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.400 0 0 2004 2004
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.554 0.655 2.8E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.400 0 0 2009 2009
Entrez Id: 9581
Gene Symbol: PREPL
PREPL
prolyl endopeptidase like 0.659 0.448 9.2E-14
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.110 0 0 2006 2006
Entrez Id: 5250
Gene Symbol: SLC25A3
SLC25A3
solute carrier family 25 member 3 0.602 0.621 9.2E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.110 0 0 2007 2007
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
early B cell factor 3 0.645 0.517 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 2 0 2015 2017
Entrez Id: 2917
Gene Symbol: GRM7
GRM7
glutamate metabotropic receptor 7 0.659 0.414 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 1 0 2017 2017
Entrez Id: 57102
Gene Symbol: C12orf4
C12orf4
chromosome 12 open reading frame 4 1.000 0.034 6.8E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 158293
Gene Symbol: FAM120AOS
FAM120AOS
family with sequence similarity 120A opposite strand 1.000 0.069 0.34
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Meckel syndrome, type 1 0.546 0.690 4.6E-16
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.645 0.483 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 1 0 2017 2017
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.773 0.207 2.0E-15
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CDKN1A interacting zinc finger protein 1 0.685 0.379 4.9E-02
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
AT-hook DNA binding motif containing 1 0.727 0.414 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 1 0 2014 2014
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
dynamin 1 0.667 0.345 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 92154
Gene Symbol: MTSS1L
MTSS1L
MTSS1L, I-BAR domain containing 0.99
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 127343
Gene Symbol: DMBX1
DMBX1
diencephalon/mesencephalon homeobox 1 0.857 0.069 0.94
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 23090
Gene Symbol: ZNF423
ZNF423
zinc finger protein 423 0.645 0.586 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 23189
Gene Symbol: KANK1
KANK1
KN motif and ankyrin repeat domains 1 0.672 0.448 1.1E-17
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1
plexin D1 0.707 0.448 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 22931
Gene Symbol: RAB18
RAB18
RAB18, member RAS oncogene family 0.586 0.552 0.88
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
peptidase, mitochondrial processing alpha subunit 0.727 0.379 2.6E-11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1 0.570 0.655 7.8E-08
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
IQ motif and Sec7 domain 2 0.619 0.517 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 22909
Gene Symbol: FAN1
FAN1
FANCD2 and FANCI associated nuclease 1 0.659 0.414 1.9E-25
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 10297
Gene Symbol: APC2
APC2
APC2, WNT signaling pathway regulator 0.633 0.552 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0