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: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 29 1 1980 2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
potassium voltage-gated channel subfamily A member 2 0.612 0.577 0.91
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 28 1 1991 2017
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 27 1 1988 2017
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 27 1 1998 2016
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
zinc finger and BTB domain containing 18 0.666 0.500 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 26 1 1997 2017
Entrez Id: 10481
Gene Symbol: HOXB13
HOXB13
homeobox B13 0.573 0.462 3.7E-08
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.100 None 1.000 26 1 1996 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 26 1 1985 2017
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
SET domain containing 5 0.560 0.731 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 26 1 1995 2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
SET domain containing 5 0.560 0.731 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 26 1 1995 2018
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
SET domain containing 5 0.560 0.731 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.120 None 1.000 26 1 1995 2018
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.130 None 1.000 25 1 1983 2017
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 25 1 2000 2018
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 25 1 2000 2018
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 25 1 1988 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype 0.100 None 1.000 25 1 1988 2017
Entrez Id: 8452
Gene Symbol: CUL3
CUL3
cullin 3 0.592 0.654 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 25 1 1986 2016
Entrez Id: 8452
Gene Symbol: CUL3
CUL3
cullin 3 0.592 0.654 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 1.000 25 1 1986 2016
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
histone deacetylase 3 0.511 0.731 0.57
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 25 1 1999 2016
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 24 1 1976 2017
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
clathrin heavy chain 0.558 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 23 1 1976 2017
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
clathrin heavy chain 0.558 0.769 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 23 1 1976 2017
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
clathrin heavy chain 0.558 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 23 1 1976 2017
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
dedicator of cytokinesis 3 0.619 0.692 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 23 1 2000 2018
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
dedicator of cytokinesis 3 0.619 0.692 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 23 1 2000 2018
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2
peptidyl-tRNA hydrolase 2 0.641 0.577 6.4E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 23 1 1976 2017