Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55765
Gene Symbol: INAVA
INAVA
CUI: C4748083
Disease: INFLAMMATORY BOWEL DISEASE 29
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
CUI: C4748253
Disease: SPERMATOGENIC FAILURE 32
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
CUI: C4748536
Disease: RETINITIS PIGMENTOSA 83
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
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
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
CUI: C4748084
Disease: OVARIAN DYSGENESIS 6
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
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
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
CUI: C4551959
Disease: ATRIAL STANDSTILL 1
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
CUI: C0684249
Disease: Carcinoma of lung
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
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
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
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
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
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
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
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder)
0.300 GeneticVariation UNIPROT KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 21552264

2011