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: 2010
Gene Symbol: EMD
EMD 		emerin 0.542 0.731 0.93
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		disease 0.800 None 1.000 4 2 1994 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		disease 0.700 strong 1.000 1 1 1999 2017
Entrez Id: 1736
Gene Symbol: DKC1
DKC1 		dyskerin pseudouridine synthase 1 0.547 0.769 1.00
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		disease 0.800 None 1.000 12 22 1998 2019
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG 		interleukin 2 receptor subunit gamma 0.535 0.769 0.99
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		group 0.800 strong 0.965 13 7 1989 2019
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		disease 0.800 definitive 1.000 14 26 1995 2019
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		disease 1.000 None 0.964 26 26 1975 2020
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		nuclear receptor subfamily 0 group B member 1 0.494 0.808 0.97
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease 1.000 strong 1.000 16 8 1994 2019
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0432273
Disease: Worth disease
Worth disease 		disease 0.700 strong 1.000 1 3 2001 2003
Entrez Id: 147183
Gene Symbol: KRT25
KRT25 		keratin 25 0.736 0.269 4.6E-09
CUI: C4225214
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 		disease 0.600 strong 1.000 3 2 2015 2018
Entrez Id: 121391
Gene Symbol: KRT74
KRT74 		keratin 74 0.736 0.192 2.1E-14
CUI: C1860238
Disease: WOOLLY HAIR, AUTOSOMAL DOMINANT
WOOLLY HAIR, AUTOSOMAL DOMINANT 		disease 0.600 None 1.000 1 1 2010 2010
Entrez Id: 3988
Gene Symbol: LIPA
LIPA 		lipase A, lysosomal acid type 0.564 0.654 5.5E-07
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		disease 1.000 strong 0.989 2 2 1976 2020
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		disease 0.710 definitive 1.000 3 4 1998 2018
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		disease 0.980 None 1.000 8 14 1998 2018
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2 		protein kinase AMP-activated non-catalytic subunit gamma 2 0.582 0.654 1.00
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		disease 0.800 None 1.000 3 2 1977 2016
Entrez Id: 9451
Gene Symbol: EIF2AK3
EIF2AK3 		eukaryotic translation initiation factor 2 alpha kinase 3 0.501 0.808 2.8E-03
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		disease 1.000 None 0.964 1 1 1995 2019
Entrez Id: 7454
Gene Symbol: WAS
WAS 		WASP actin nucleation promoting factor 0.529 0.808 1.00
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease 1.000 definitive 0.987 12 4 1994 2020
Entrez Id: 6608
Gene Symbol: SMO
SMO 		smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		disease 0.710 None 1.000 2 1 2014 2020
Entrez Id: 4323
Gene Symbol: MMP14
MMP14 		matrix metallopeptidase 14 0.447 0.769 1.00
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		disease 0.710 limited 1.000 1 1 2012 2018
Entrez Id: 81887
Gene Symbol: LAS1L
LAS1L 		LAS1 like ribosome biogenesis factor 0.682 0.654 1.00
CUI: C1839736
Disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME 		disease 0.600 limited 1.000 1 1 2016 2016
Entrez Id: 5978
Gene Symbol: REST
REST 		RE1 silencing transcription factor 0.535 0.808 0.99
CUI: C3891301
Disease: WILMS TUMOR, SUSCEPTIBILITY TO
WILMS TUMOR, SUSCEPTIBILITY TO 		phenotype 0.700 None 1.000 1 1 2015 2015
Entrez Id: 11281
Gene Symbol: POU6F2
POU6F2 		POU class 6 homeobox 2 0.769 0.385 1.5E-03
CUI: C1832099
Disease: Wilms tumor and radial bilateral aplasia
Wilms tumor and radial bilateral aplasia 		disease 0.600 None 1.000 1 0 2001 2001
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome 		disease 0.720 strong 1.000 4 5 2016 2018
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2 		zinc finger C4H2-type containing 0.561 0.731 0.91
CUI: C0796200
Disease: Wieacker-Wolff syndrome
Wieacker-Wolff syndrome 		disease 0.710 None 1.000 2 6 2013 2017
Entrez Id: 3860
Gene Symbol: KRT13
KRT13 		keratin 13 0.631 0.692 6.4E-04
CUI: C4014321
Disease: WHITE SPONGE NEVUS 2
WHITE SPONGE NEVUS 2 		disease 0.400 None 1.000 4 5 1995 2003
Entrez Id: 3851
Gene Symbol: KRT4
KRT4 		keratin 4 0.736 0.423 5.5E-10
CUI: C4011926
Disease: WHITE SPONGE NEVUS 1
WHITE SPONGE NEVUS 1 		disease 0.400 None 1.000 2 0 2000 2003