Entrez Id: |
65217 |
Gene Symbol: |
PCDH15 |
PCDH15
|
protocadherin related 15
|
0.601 |
0.577 |
8.0E-25 |
Nonsyndromic Deafness
|
disease |
0.440 |
limited
|
1.000 |
20 |
0 |
2001 |
2017 |
Entrez Id: |
4633 |
Gene Symbol: |
MYL2 |
MYL2
|
myosin light chain 2
|
0.601 |
0.615 |
2.7E-08 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
|
disease |
0.700 |
definitive
|
1.000 |
18 |
0 |
1980 |
2019 |
Entrez Id: |
5350 |
Gene Symbol: |
PLN |
PLN
|
phospholamban
|
0.595 |
0.577 |
0.45 |
Cardiomyopathies
|
group |
0.700 |
definitive
|
1.000 |
18 |
0 |
1993 |
2019 |
Entrez Id: |
7054 |
Gene Symbol: |
TH |
TH
|
tyrosine hydroxylase
|
0.462 |
0.885 |
1.7E-06 |
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
disease |
0.720 |
definitive
|
1.000 |
18 |
0 |
1964 |
2018 |
Entrez Id: |
71 |
Gene Symbol: |
ACTG1 |
ACTG1
|
actin gamma 1
|
0.477 |
0.846 |
4.8E-03 |
Nonsyndromic Deafness
|
disease |
0.330 |
definitive
|
1.000 |
18 |
0 |
2003 |
2018 |
Entrez Id: |
2153 |
Gene Symbol: |
F5 |
F5
|
coagulation factor V
|
0.441 |
0.846 |
5.9E-15 |
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
|
disease |
0.730 |
definitive
|
1.000 |
17 |
0 |
1988 |
2018 |
Entrez Id: |
7007 |
Gene Symbol: |
TECTA |
TECTA
|
tectorin alpha
|
0.700 |
0.385 |
3.0E-16 |
Nonsyndromic Deafness
|
disease |
0.330 |
definitive
|
1.000 |
17 |
0 |
1998 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
glucosidase alpha, acid
|
0.631 |
0.577 |
2.8E-18 |
Glycogen Storage Disease IIIC
|
disease |
0.300 |
definitive
|
1.000 |
16 |
0 |
1965 |
2011 |
Entrez Id: |
27086 |
Gene Symbol: |
FOXP1 |
FOXP1
|
forkhead box P1
|
0.460 |
0.808 |
1.00 |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
|
disease |
0.500 |
definitive
|
1.000 |
16 |
0 |
2003 |
2018 |
Entrez Id: |
440 |
Gene Symbol: |
ASNS |
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
0.595 |
0.692 |
9.4E-06 |
ASPARAGINE SYNTHETASE DEFICIENCY
|
disease |
0.730 |
definitive
|
1.000 |
16 |
0 |
1968 |
2019 |
Entrez Id: |
6323 |
Gene Symbol: |
SCN1A |
SCN1A
|
sodium voltage-gated channel alpha subunit 1
|
0.477 |
0.808 |
1.00 |
Migraine, Familial Hemiplegic, 3
|
disease |
0.700 |
moderate
|
1.000 |
16 |
0 |
2000 |
2018 |
Entrez Id: |
6611 |
Gene Symbol: |
SMS |
SMS
|
spermine synthase
|
0.491 |
0.846 |
0.97 |
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
|
disease |
0.800 |
definitive
|
1.000 |
16 |
0 |
1969 |
2019 |
Entrez Id: |
10075 |
Gene Symbol: |
HUWE1 |
HUWE1
|
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
|
0.534 |
0.769 |
1.00 |
Mental Retardation, X-Linked Nonsyndromic
|
disease |
0.300 |
definitive
|
1.000 |
15 |
0 |
2008 |
2017 |
Entrez Id: |
1302 |
Gene Symbol: |
COL11A2 |
COL11A2
|
collagen type XI alpha 2 chain
|
0.435 |
0.846 |
0.70 |
Pierre Robin syndrome with fetal chondrodysplasia
|
disease |
0.820 |
definitive
|
1.000 |
15 |
0 |
1964 |
2015 |
Entrez Id: |
1302 |
Gene Symbol: |
COL11A2 |
COL11A2
|
collagen type XI alpha 2 chain
|
0.435 |
0.846 |
0.70 |
Otospondylomegaepiphyseal dysplasia
|
disease |
1.000 |
definitive
|
1.000 |
15 |
0 |
1964 |
2015 |
Entrez Id: |
4595 |
Gene Symbol: |
MUTYH |
MUTYH
|
mutY DNA glycosylase
|
0.521 |
0.769 |
1.3E-18 |
Colorectal Adenomatous Polyposis, Autosomal Recessive
|
disease |
0.710 |
definitive
|
1.000 |
15 |
0 |
1987 |
2018 |
Entrez Id: |
51422 |
Gene Symbol: |
PRKAG2 |
PRKAG2
|
protein kinase AMP-activated non-catalytic subunit gamma 2
|
0.582 |
0.654 |
1.00 |
Hypertrophic Cardiomyopathy
|
disease |
0.500 |
definitive
|
1.000 |
15 |
0 |
1995 |
2019 |
Entrez Id: |
5459 |
Gene Symbol: |
POU4F3 |
POU4F3
|
POU class 4 homeobox 3
|
0.700 |
0.538 |
0.92 |
Nonsyndromic Deafness
|
disease |
0.360 |
definitive
|
1.000 |
15 |
0 |
1996 |
2018 |
Entrez Id: |
2593 |
Gene Symbol: |
GAMT |
GAMT
|
guanidinoacetate N-methyltransferase
|
0.691 |
0.269 |
9.5E-03 |
Guanidinoacetate methyltransferase deficiency
|
disease |
0.940 |
definitive
|
1.000 |
14 |
0 |
1940 |
2017 |
Entrez Id: |
6928 |
Gene Symbol: |
HNF1B |
HNF1B
|
HNF1 homeobox B
|
0.473 |
0.808 |
1.00 |
Renal cysts and diabetes syndrome
|
disease |
0.800 |
definitive
|
1.000 |
14 |
0 |
1997 |
2019 |
Entrez Id: |
7048 |
Gene Symbol: |
TGFBR2 |
TGFBR2
|
transforming growth factor beta receptor 2
|
0.413 |
0.846 |
0.13 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
0.600 |
definitive
|
1.000 |
14 |
0 |
2003 |
2019 |
Entrez Id: |
2110 |
Gene Symbol: |
ETFDH |
ETFDH
|
electron transfer flavoprotein dehydrogenase
|
0.678 |
0.462 |
2.8E-13 |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
|
disease |
0.800 |
definitive
|
1.000 |
13 |
0 |
1985 |
2019 |
Entrez Id: |
2628 |
Gene Symbol: |
GATM |
GATM
|
glycine amidinotransferase
|
0.666 |
0.615 |
5.1E-02 |
Arginine:Glycine Amidinotransferase Deficiency
|
disease |
0.760 |
definitive
|
1.000 |
13 |
0 |
1940 |
2018 |
Entrez Id: |
2775 |
Gene Symbol: |
GNAO1 |
GNAO1
|
G protein subunit alpha o1
|
0.523 |
0.808 |
0.99 |
Early infantile epileptic encephalopathy with suppression bursts
|
disease |
0.510 |
definitive
|
1.000 |
13 |
0 |
1997 |
2019 |
Entrez Id: |
2775 |
Gene Symbol: |
GNAO1 |
GNAO1
|
G protein subunit alpha o1
|
0.523 |
0.808 |
0.99 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
|
disease |
0.400 |
definitive
|
1.000 |
13 |
0 |
1997 |
2019 |