Entrez Id: |
55765 |
Gene Symbol: |
INAVA |
INAVA
|
INFLAMMATORY BOWEL DISEASE 29
|
0.300 |
GeneticVariation |
UNIPROT |
An inflammatory bowel disease-risk variant in INAVA decreases pattern recognition receptor-induced outcomes.
|
28436939 |
2017 |
Entrez Id: |
402381 |
Gene Symbol: |
SOHLH1 |
SOHLH1
|
SPERMATOGENIC FAILURE 32
|
0.300 |
GeneticVariation |
UNIPROT |
Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.
|
28718531 |
2017 |
Entrez Id: |
1789 |
Gene Symbol: |
DNMT3B |
DNMT3B
|
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
|
0.300 |
GeneticVariation |
UNIPROT |
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
|
27153398 |
2016 |
Entrez Id: |
9474 |
Gene Symbol: |
ATG5 |
ATG5
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25
|
0.300 |
GeneticVariation |
UNIPROT |
Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
|
26812546 |
2016 |
Entrez Id: |
359948 |
Gene Symbol: |
IRF2BP2 |
IRF2BP2
|
IMMUNODEFICIENCY, COMMON VARIABLE, 14
|
0.300 |
GeneticVariation |
UNIPROT |
Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.
|
27016798 |
2016 |
Entrez Id: |
9918 |
Gene Symbol: |
NCAPD2 |
NCAPD2
|
MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE
|
0.300 |
GeneticVariation |
UNIPROT |
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
|
27737959 |
2016 |
Entrez Id: |
23397 |
Gene Symbol: |
NCAPH |
NCAPH
|
MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE
|
0.300 |
GeneticVariation |
UNIPROT |
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
|
27737959 |
2016 |
Entrez Id: |
403 |
Gene Symbol: |
ARL3 |
ARL3
|
RETINITIS PIGMENTOSA 83
|
0.300 |
GeneticVariation |
UNIPROT |
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.
|
26964041 |
2016 |
Entrez Id: |
3739 |
Gene Symbol: |
KCNA4 |
KCNA4
|
MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
|
0.300 |
GeneticVariation |
UNIPROT |
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.
|
27582084 |
2016 |
Entrez Id: |
144811 |
Gene Symbol: |
LACC1 |
LACC1
|
Rheumatoid Arthritis, Systemic Juvenile
|
0.300 |
GeneticVariation |
UNIPROT |
Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
|
25220867 |
2015 |
Entrez Id: |
3418 |
Gene Symbol: |
IDH2 |
IDH2
|
GLIOMA SUSCEPTIBILITY 1
|
0.300 |
GeneticVariation |
UNIPROT |
IDH2 mutation in gliomas including novel mutation.
|
25495392 |
2015 |
Entrez Id: |
5698 |
Gene Symbol: |
PSMB9 |
PSMB9
|
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
|
0.300 |
GeneticVariation |
UNIPROT |
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
|
26524591 |
2015 |
Entrez Id: |
57122 |
Gene Symbol: |
NUP107 |
NUP107
|
OVARIAN DYSGENESIS 6
|
0.300 |
GeneticVariation |
UNIPROT |
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
|
26485283 |
2015 |
Entrez Id: |
29072 |
Gene Symbol: |
SETD2 |
SETD2
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
0.300 |
GeneticVariation |
UNIPROT |
Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.
|
24662245 |
2014 |
Entrez Id: |
29072 |
Gene Symbol: |
SETD2 |
SETD2
|
Precursor Cell Lymphoblastic Leukemia Lymphoma
|
0.300 |
GeneticVariation |
UNIPROT |
Identification of functional cooperative mutations of SETD2 in human acute leukemia.
|
24509477 |
2014 |
Entrez Id: |
3020 |
Gene Symbol: |
H3-3A |
H3-3A
|
GLIOMA SUSCEPTIBILITY 1
|
0.300 |
GeneticVariation |
UNIPROT |
Histone H3.3. mutations drive pediatric glioblastoma through upregulation of MYCN.
|
23539269 |
2013 |
Entrez Id: |
6331 |
Gene Symbol: |
SCN5A |
SCN5A
|
ATRIAL STANDSTILL 1
|
0.300 |
GeneticVariation |
UNIPROT |
MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.
|
23420830 |
2013 |
Entrez Id: |
25878 |
Gene Symbol: |
MXRA5 |
MXRA5
|
Carcinoma of lung
|
0.300 |
GeneticVariation |
UNIPROT |
Exome sequencing identifies MXRA5 as a novel cancer gene frequently mutated in non-small cell lung carcinoma from Chinese patients.
|
22696596 |
2012 |
Entrez Id: |
8350 |
Gene Symbol: |
H3C1 |
H3C1
|
GLIOMA SUSCEPTIBILITY 1
|
0.300 |
GeneticVariation |
UNIPROT |
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas.
|
22286216 |
2012 |
Entrez Id: |
3020 |
Gene Symbol: |
H3-3A |
H3-3A
|
GLIOMA SUSCEPTIBILITY 1
|
0.300 |
GeneticVariation |
UNIPROT |
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
|
22286061 |
2012 |
Entrez Id: |
3020 |
Gene Symbol: |
H3-3A |
H3-3A
|
GLIOMA SUSCEPTIBILITY 1
|
0.300 |
GeneticVariation |
UNIPROT |
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas.
|
22286216 |
2012 |
Entrez Id: |
23513 |
Gene Symbol: |
SCRIB |
SCRIB
|
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.300 |
GeneticVariation |
UNIPROT |
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.
|
22095531 |
2012 |
Entrez Id: |
51339 |
Gene Symbol: |
DACT1 |
DACT1
|
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.300 |
GeneticVariation |
UNIPROT |
Identification of novel rare mutations of DACT1 in human neural tube defects.
|
22610794 |
2012 |
Entrez Id: |
23414 |
Gene Symbol: |
ZFPM2 |
ZFPM2
|
CONOTRUNCAL HEART MALFORMATIONS (disorder)
|
0.300 |
GeneticVariation |
UNIPROT |
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
|
20807224 |
2011 |
Entrez Id: |
374654 |
Gene Symbol: |
KIF7 |
KIF7
|
Bardet-Biedl syndrome 1 (disorder)
|
0.300 |
GeneticVariation |
UNIPROT |
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
|
21552264 |
2011 |