Source: UNIPROT

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: 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
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
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
CUI: C4748536
Disease: RETINITIS PIGMENTOSA 83
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
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
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
CUI: C4748334
Disease: DEAFNESS, AUTOSOMAL DOMINANT 74
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
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
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
CUI: C4748084
Disease: OVARIAN DYSGENESIS 6
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
CUI: C4539991
Disease: SPERMATOGENIC FAILURE 21
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
CUI: C1336708
Disease: Testicular Germ Cell Tumor
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
CUI: C4539886
Disease: DEAFNESS, AUTOSOMAL DOMINANT 72
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
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
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
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
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
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
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