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: 2661
Gene Symbol: GDF9
GDF9
growth differentiation factor 9 0.644 0.385 5.5E-06
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14
disease 0.300 None 1.000 7 5 2006 2018
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1
phenotype 0.300 None 1.000 3 2 2012 2013
Entrez Id: 55765
Gene Symbol: INAVA
INAVA
innate immunity activator 0.743 0.346 2.2E-04
CUI: C4748083
Disease: INFLAMMATORY BOWEL DISEASE 29
INFLAMMATORY BOWEL DISEASE 29
disease 0.300 None 1.000 3 1 2011 2018
Entrez Id: 23646
Gene Symbol: PLD3
PLD3
phospholipase D family member 3 0.700 0.462 1.8E-05
CUI: C4540404
Disease: SPINOCEREBELLAR ATAXIA 46
SPINOCEREBELLAR ATAXIA 46
disease 0.300 None 1.000 2 1 2017 2018
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
SET domain containing 2, histone lysine methyltransferase 0.424 0.846 1.00
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease 0.300 None 1.000 2 5 2014 2014
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1
phenotype 0.300 None 1.000 2 2 2009 2015
Entrez Id: 402381
Gene Symbol: SOHLH1
SOHLH1
spermatogenesis and oogenesis specific basic helix-loop-helix 1 0.705 0.269 2.3E-03
CUI: C4748253
Disease: SPERMATOGENIC FAILURE 32
SPERMATOGENIC FAILURE 32
disease 0.300 None 1.000 2 2 2010 2017
Entrez Id: 50489
Gene Symbol: CD207
CD207
CD207 molecule 0.631 0.692 2.8E-06
CUI: C3150657
Disease: BIRBECK GRANULE DEFICIENCY
BIRBECK GRANULE DEFICIENCY
disease 0.300 None 1.000 2 1 2005 2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C4551959
Disease: ATRIAL STANDSTILL 1
ATRIAL STANDSTILL 1
disease 0.300 None 1.000 2 1 2003 2013
Entrez Id: 9918
Gene Symbol: NCAPD2
NCAPD2
non-SMC condensin I complex subunit D2 0.760 0.346 1.1E-12
MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE
disease 0.300 None 1.000 2 0 2016 2017
Entrez Id: 10525
Gene Symbol: HYOU1
HYOU1
hypoxia up-regulated 1 0.633 0.731 0.86
Granulocytopenia with Immunoglobulin Abnormality
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 144811
Gene Symbol: LACC1
LACC1
laccase domain containing 1 0.700 0.423 1.2E-05
Rheumatoid Arthritis, Systemic Juvenile
disease 0.300 None 1.000 1 1 2015 2015
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
cytochrome P450 family 1 subfamily B member 1 0.457 0.769 2.2E-05
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A
disease 0.300 None 1.000 1 1 2002 2002
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
DNA methyltransferase 3 beta 0.453 0.846 0.20
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
disease 0.300 None 1.000 1 1 2016 2016
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
estrogen receptor 2 0.400 0.923 4.5E-08
CUI: C4748626
Disease: OVARIAN DYSGENESIS 8
OVARIAN DYSGENESIS 8
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 2196
Gene Symbol: FAT2
FAT2
FAT atypical cadherin 2 0.792 0.346 6.0E-18
CUI: C4540400
Disease: SPINOCEREBELLAR ATAXIA 45
SPINOCEREBELLAR ATAXIA 45
disease 0.300 None 1.000 1 2 2017 2017
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
Dmx like 2 0.695 0.538 1.00
CUI: C4539881
Disease: DEAFNESS, AUTOSOMAL DOMINANT 71
DEAFNESS, AUTOSOMAL DOMINANT 71
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 23397
Gene Symbol: NCAPH
NCAPH
non-SMC condensin I complex subunit H 0.760 0.385 8.0E-05
MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE
disease 0.300 None 1.000 1 1 2016 2016
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
zinc finger protein, FOG family member 2 0.565 0.731 1.00
CONOTRUNCAL HEART MALFORMATIONS (disorder)
disease 0.300 None 1.000 1 2 2011 2011
Entrez Id: 23513
Gene Symbol: SCRIB
SCRIB
scribble planar cell polarity protein 0.691 0.423 0.93
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
disease 0.300 None 1.000 1 2 2012 2012
Entrez Id: 254528
Gene Symbol: MEIOB
MEIOB
meiosis specific with OB-fold 0.769 0.192 3.0E-14
CUI: C4540179
Disease: SPERMATOGENIC FAILURE 22
SPERMATOGENIC FAILURE 22
disease 0.300 None 1.000 1 1 2017 2017
Entrez Id: 25878
Gene Symbol: MXRA5
MXRA5
matrix remodeling associated 5 0.839 0.192 4.3E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease 0.300 None 1.000 1 5 2012 2012
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
protein tyrosine phosphatase non-receptor type 22 0.438 0.846 3.5E-21
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
disease 0.300 None 1.000 1 1 2005 2005
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
gap junction protein alpha 5 0.575 0.577 1.8E-02
CUI: C4551959
Disease: ATRIAL STANDSTILL 1
ATRIAL STANDSTILL 1
disease 0.300 None 1.000 1 2 2006 2006
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
ankyrin repeat domain 1 0.628 0.692 2.6E-10
Total Anomalous Pulmonary Venous Return 1
disease 0.300 None 1.000 1 1 2008 2008