Entrez Id: |
340419 |
Gene Symbol: |
RSPO2 |
RSPO2
|
R-spondin 2
|
0.558 |
0.577 |
2.5E-02 |
HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
|
disease |
0.300 |
None
|
1.000 |
1 |
0 |
2018 |
2018 |
Entrez Id: |
341208 |
Gene Symbol: |
HEPHL1 |
HEPHL1
|
hephaestin like 1
|
0.792 |
0.231 |
1.1E-34 |
Pili torti developmental delay neurological abnormalities
|
phenotype |
0.300 |
None
|
1.000 |
1 |
0 |
2019 |
2019 |
Entrez Id: |
359948 |
Gene Symbol: |
IRF2BP2 |
IRF2BP2
|
interferon regulatory factor 2 binding protein 2
|
0.641 |
0.500 |
0.85 |
IMMUNODEFICIENCY, COMMON VARIABLE, 14
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2016 |
2016 |
Entrez Id: |
3739 |
Gene Symbol: |
KCNA4 |
KCNA4
|
potassium voltage-gated channel subfamily A member 4
|
0.716 |
0.423 |
0.98 |
MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2016 |
2016 |
Entrez Id: |
374654 |
Gene Symbol: |
KIF7 |
KIF7
|
kinesin family member 7
|
0.528 |
0.731 |
2.3E-22 |
Bardet-Biedl syndrome 1 (disorder)
|
disease |
0.300 |
None
|
1.000 |
1 |
3 |
2011 |
2011 |
Entrez Id: |
403 |
Gene Symbol: |
ARL3 |
ARL3
|
ADP ribosylation factor like GTPase 3
|
0.603 |
0.615 |
1.4E-03 |
RETINITIS PIGMENTOSA 83
|
disease |
0.300 |
None
|
1.000 |
1 |
0 |
2016 |
2016 |
Entrez Id: |
4140 |
Gene Symbol: |
MARK3 |
MARK3
|
microtubule affinity regulating kinase 3
|
0.729 |
0.423 |
1.4E-06 |
VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2018 |
2018 |
Entrez Id: |
4535 |
Gene Symbol: |
ND1 |
ND1
|
NADH dehydrogenase, subunit 1 (complex I)
|
0.522 |
0.769 |
|
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
1993 |
1993 |
Entrez Id: |
4536 |
Gene Symbol: |
ND2 |
ND2
|
MTND2
|
0.601 |
0.615 |
|
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
1992 |
1992 |
Entrez Id: |
4538 |
Gene Symbol: |
ND4 |
ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
0.546 |
0.769 |
|
LEBER OPTIC ATROPHY AND DYSTONIA
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
1996 |
1996 |
Entrez Id: |
51339 |
Gene Symbol: |
DACT1 |
DACT1
|
dishevelled binding antagonist of beta catenin 1
|
0.547 |
0.692 |
0.40 |
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2012 |
2012 |
Entrez Id: |
5137 |
Gene Symbol: |
PDE1C |
PDE1C
|
phosphodiesterase 1C
|
0.700 |
0.423 |
5.4E-09 |
DEAFNESS, AUTOSOMAL DOMINANT 74
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2018 |
2018 |
Entrez Id: |
56893 |
Gene Symbol: |
UBQLN4 |
UBQLN4
|
ubiquilin 4
|
0.805 |
0.308 |
0.98 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2017 |
2017 |
Entrez Id: |
5698 |
Gene Symbol: |
PSMB9 |
PSMB9
|
proteasome 20S subunit beta 9
|
0.514 |
0.808 |
2.7E-03 |
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2015 |
2015 |
Entrez Id: |
57122 |
Gene Symbol: |
NUP107 |
NUP107
|
nucleoporin 107
|
0.595 |
0.500 |
2.6E-09 |
OVARIAN DYSGENESIS 6
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2015 |
2015 |
Entrez Id: |
6301 |
Gene Symbol: |
SARS1 |
SARS1
|
seryl-tRNA synthetase 1
|
0.558 |
0.769 |
1.00 |
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2017 |
2017 |
Entrez Id: |
676 |
Gene Symbol: |
BRDT |
BRDT
|
bromodomain testis associated
|
0.751 |
0.231 |
5.8E-09 |
SPERMATOGENIC FAILURE 21
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2017 |
2017 |
Entrez Id: |
6793 |
Gene Symbol: |
STK10 |
STK10
|
serine/threonine kinase 10
|
0.792 |
0.346 |
1.3E-14 |
Testicular Germ Cell Tumor
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2006 |
2006 |
Entrez Id: |
80736 |
Gene Symbol: |
SLC44A4 |
SLC44A4
|
solute carrier family 44 member 4
|
0.678 |
0.615 |
1.0E-14 |
DEAFNESS, AUTOSOMAL DOMINANT 72
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2017 |
2017 |
Entrez Id: |
815 |
Gene Symbol: |
CAMK2A |
CAMK2A
|
calcium/calmodulin dependent protein kinase II alpha
|
0.612 |
0.538 |
1.00 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2018 |
2018 |
Entrez Id: |
8216 |
Gene Symbol: |
LZTR1 |
LZTR1
|
leucine zipper like transcription regulator 1
|
0.547 |
0.808 |
1.0E-92 |
GLIOMA SUSCEPTIBILITY 1
|
phenotype |
0.300 |
None
|
1.000 |
1 |
2 |
2018 |
2018 |
Entrez Id: |
8350 |
Gene Symbol: |
H3C1 |
H3C1
|
H3 clustered histone 1
|
0.670 |
0.308 |
6.3E-07 |
GLIOMA SUSCEPTIBILITY 1
|
phenotype |
0.300 |
None
|
1.000 |
1 |
0 |
2012 |
2012 |
Entrez Id: |
844 |
Gene Symbol: |
CASQ1 |
CASQ1
|
calsequestrin 1
|
0.722 |
0.423 |
3.9E-18 |
MYOPATHY, TUBULAR AGGREGATE, 1
|
disease |
0.300 |
None
|
1.000 |
1 |
2 |
2017 |
2017 |
Entrez Id: |
846 |
Gene Symbol: |
CASR |
CASR
|
calcium sensing receptor
|
0.410 |
0.846 |
4.7E-02 |
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8
|
disease |
0.300 |
None
|
1.000 |
1 |
3 |
2008 |
2008 |
Entrez Id: |
84617 |
Gene Symbol: |
TUBB6 |
TUBB6
|
tubulin beta 6 class V
|
0.686 |
0.462 |
1.7E-04 |
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION
|
disease |
0.300 |
None
|
1.000 |
1 |
1 |
2017 |
2017 |