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: 197135
Gene Symbol: PATL2
PATL2
PAT1 homolog 2 1.000 7.5E-12
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4
disease 0.400 2 0 2015 2017
Entrez Id: 342618
Gene Symbol: SLFN14
SLFN14
schlafen family member 14 1.000 3.6E-09
BLEEDING DISORDER, PLATELET-TYPE, 20
disease 0.700 2 4 2015 2016
Entrez Id: 347688
Gene Symbol: TUBB8
TUBB8
tubulin beta 8 class VIII 1.000 2.0E-02
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
disease 0.600 2 10 2016 2016
Entrez Id: 8749
Gene Symbol: ADAM18
ADAM18
ADAM metallopeptidase domain 18 1.000 2.5E-34
CUI: C1321872
Disease: Stage IV Skin Melanoma
Stage IV Skin Melanoma
disease 0.300 1 2 2011 2011
Entrez Id: 27010
Gene Symbol: TPK1
TPK1
thiamin pyrophosphokinase 1 0.928 8.8E-02
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
disease 0.700 1 3 2012 2012
Entrez Id: 81034
Gene Symbol: SLC25A32
SLC25A32
solute carrier family 25 member 32 1.000 6.0E-09
EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE
disease 0.400 1 1 2016 2016
Entrez Id: 100128927
Gene Symbol: ZBTB42
ZBTB42
zinc finger and BTB domain containing 42 1.000 0.35
LETHAL CONGENITAL CONTRACTURE SYNDROME 6
disease 0.610 1.000 1 1 2015 2015
Entrez Id: 123879
Gene Symbol: DCUN1D3
DCUN1D3
defective in cullin neddylation 1 domain containing 3 0.88
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group 0.300 0 0
Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
RAS guanyl releasing protein 2 0.886 0.034 0.17
BLEEDING DISORDER, PLATELET-TYPE, 18
disease 0.700 4 2 2014 2018
Entrez Id: 631
Gene Symbol: BFSP1
BFSP1
beaded filament structural protein 1 0.799 0.034 1.6E-07
CUI: C3808107
Disease: CATARACT 33, MULTIPLE TYPES
CATARACT 33, MULTIPLE TYPES
disease 0.400 3 0 2007 2017
Entrez Id: 124404
Gene Symbol: SEPT12
SEPT12
septin 12 0.886 0.034 4.4E-19
CUI: C3553793
Disease: SPERMATOGENIC FAILURE 10
SPERMATOGENIC FAILURE 10
disease 0.600 3 2 2012 2016
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A
DENN domain containing 5A 0.886 0.034 3.6E-02
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49
disease 0.600 2 1 2015 2017
Entrez Id: 55217
Gene Symbol: TMLHE
TMLHE
trimethyllysine hydroxylase, epsilon 0.928 0.034 8.6E-05
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
disease 0.400 2 2 2012 2016
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23
TBC1 domain family member 23 0.886 0.034 8.0E-05
CUI: C4540164
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
PONTOCEREBELLAR HYPOPLASIA, TYPE 11
disease 0.300 2 0 2017 2017
Entrez Id: 283375
Gene Symbol: SLC39A5
SLC39A5
solute carrier family 39 member 5 0.886 0.034 1.1E-10
CUI: C4014762
Disease: MYOPIA 24, AUTOSOMAL DOMINANT
MYOPIA 24, AUTOSOMAL DOMINANT
disease 0.600 2 1 2015 2015
Entrez Id: 2036
Gene Symbol: EPB41L1
EPB41L1
erythrocyte membrane protein band 4.1 like 1 0.928 0.034 0.92
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
disease 0.500 1 0 2011 2011
Entrez Id: 7784
Gene Symbol: ZP3
ZP3
zona pellucida glycoprotein 3 0.886 0.034 1.2E-03
CUI: C4540205
Disease: OOCYTE MATURATION DEFECT 3
OOCYTE MATURATION DEFECT 3
disease 0.500 1 0 2017 2017
Entrez Id: 10613
Gene Symbol: ERLIN1
ERLIN1
ER lipid raft associated 1 0.857 0.034 0.18
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE
disease 0.700 1 0 2014 2014
Entrez Id: 29058
Gene Symbol: TMEM230
TMEM230
transmembrane protein 230 0.834 0.034 1.3E-03
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
disease 0.310 1.000 1 2 2016 2018
Entrez Id: 56159
Gene Symbol: TEX11
TEX11
testis expressed 11 0.834 0.034 1.00
CUI: C1839841
Disease: SPERMATOGENIC FAILURE, X-LINKED, 2
SPERMATOGENIC FAILURE, X-LINKED, 2
disease 0.600 1 2 2015 2015
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
iron-sulfur cluster assembly 1 0.928 0.034 0.18
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
disease 0.400 1 1 2018 2018
Entrez Id: 83893
Gene Symbol: SPATA16
SPATA16
spermatogenesis associated 16 0.928 0.034 1.7E-10
CUI: C0403825
Disease: Globozoospermia
Globozoospermia
phenotype 0.600 1 1 2007 2007
Entrez Id: 254528
Gene Symbol: MEIOB
MEIOB
meiosis specific with OB domains 0.886 0.034 1.3E-13
CUI: C4540179
Disease: SPERMATOGENIC FAILURE 22
SPERMATOGENIC FAILURE 22
disease 0.300 1 0 2018 2018
Entrez Id: 317719
Gene Symbol: KLHL10
KLHL10
kelch like family member 10 0.857 0.034 0.98
CUI: C3554453
Disease: SPERMATOGENIC FAILURE 11
SPERMATOGENIC FAILURE 11
disease 0.600 1 2 2007 2007
Entrez Id: 387787
Gene Symbol: LIPT2
LIPT2
lipoyl(octanoyl) transferase 2 0.886 0.034 0.61
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
disease 0.400 1 2 2015 2017