Source: HPO

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: 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: 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: 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: 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: 9897
Gene Symbol: WASHC5
WASHC5
WASH complex subunit 5 0.602 0.621
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.558 0.621 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
patatin like phospholipase domain containing 6 0.550 0.655 5.9E-13
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1
beta-1,4-glucuronyltransferase 1 0.573 0.414
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
pyridoxal phosphate binding protein 0.773 0.207
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
beta-1,4-galactosyltransferase 7 0.636 0.586 8.6E-05
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: 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: 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: 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: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.559 0.552 2.5E-17
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1, transcription factor 0.600 0.552 1.5E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 10466
Gene Symbol: COG5
COG5
component of oligomeric golgi complex 5 0.752 0.241 1.2E-18
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 0.743 0.414 0.83
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 9993
Gene Symbol: DGCR2
DGCR2
DiGeorge syndrome critical region gene 2 0.645 0.655 3.8E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 10157
Gene Symbol: AASS
AASS
aminoadipate-semialdehyde synthase 0.713 0.345 2.5E-12
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3
ALG3, alpha-1,3- mannosyltransferase 0.676 0.345 1.6E-10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 10225
Gene Symbol: CD96
CD96
CD96 molecule 0.616 0.621 1.7E-11
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 0 0
Entrez Id: 10229
Gene Symbol: COQ7
COQ7
coenzyme Q7, hydroxylase 0.752 0.345 3.4E-06
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