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: 6125
Gene Symbol: RPL5
RPL5 		ribosomal protein L5 0.617 0.615 1.00
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		disease 0.700 strong 1.000 2 1 2008 2009
Entrez Id: 9149
Gene Symbol: DYRK1B
DYRK1B 		dual specificity tyrosine phosphorylation regulated kinase 1B 0.647 0.462 0.97
CUI: C4014361
Disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3
ABDOMINAL OBESITY-METABOLIC SYNDROME 3 		disease 0.700 strong 1.000 1 2 2014 2014
Entrez Id: 4547
Gene Symbol: MTTP
MTTP 		microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		disease 0.800 None 0.982 7 7 1985 2019
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2 		twist family bHLH transcription factor 2 0.518 0.731 0.56
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		disease 0.730 strong 1.000 1 0 1963 2019
Entrez Id: 57724
Gene Symbol: EPG5
EPG5 		ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C1855772
Disease: Absent corpus callosum cataract immunodeficiency
Absent corpus callosum cataract immunodeficiency 		disease 0.800 strong 1.000 6 4 1988 2020
Entrez Id: 338
Gene Symbol: APOB
APOB 		apolipoprotein B 0.453 0.808 1.9E-16
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		disease 0.710 strong 1.000 3 1 1989 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		disease 1.000 None 1.000 8 4 1988 2012
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2 		solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		disease 0.790 None 1.000 1 2 1996 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 1.000 definitive 0.974 6 3 1994 2020
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		disease 0.800 None 1.000 1 1 1996 2018
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		cyclic nucleotide gated channel subunit alpha 3 0.650 0.154 8.0E-20
CUI: C1857618
Disease: Achromatopsia 2
Achromatopsia 2 		disease 0.940 None 1.000 8 38 1998 2019
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		disease 0.930 None 1.000 6 10 2000 2018
Entrez Id: 22926
Gene Symbol: ATF6
ATF6 		activating transcription factor 6 0.516 0.846 3.2E-07
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		disease 0.700 strong 1.000 2 1 2015 2015
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS 		insulin like growth factor binding protein acid labile subunit 0.511 0.846 5.4E-11
CUI: C3900122
Disease: Acid-Labile Subunit Deficiency
Acid-Labile Subunit Deficiency 		disease 0.700 None 1.000 8 5 2004 2016
Entrez Id: 23385
Gene Symbol: NCSTN
NCSTN 		nicastrin 0.666 0.462 1.00
CUI: C4551962
Disease: ACNE INVERSA, FAMILIAL, 1
ACNE INVERSA, FAMILIAL, 1 		disease 0.600 None 1.000 3 0 2010 2012
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		disease 0.980 None 1.000 4 3 2009 2019
Entrez Id: 3549
Gene Symbol: IHH
IHH 		Indian hedgehog signaling molecule 0.573 0.538 0.31
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		disease 0.710 None 1.000 1 2 2003 2015
Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4 		solute carrier family 39 member 4 0.628 0.692 3.1E-04
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		disease 1.000 None 0.957 4 9 2002 2019
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C3276228
Disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE 		disease 0.700 strong 1.000 7 4 2011 2016
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D 		phosphodiesterase 4D 0.519 0.846 1.00
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		disease 0.710 None 1.000 4 8 2012 2017
Entrez Id: 25885
Gene Symbol: POLR1A
POLR1A 		RNA polymerase I subunit A 0.682 0.538 1.00
CUI: C4225317
Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE 		disease 0.710 None 1.000 1 1 2014 2018
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0265971
Disease: Acrokeratosis Verruciformis of Hopf
Acrokeratosis Verruciformis of Hopf 		disease 0.740 None 1.000 1 1 2003 2017
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6 		zinc finger SWIM-type containing 6 0.626 0.577 1.00
CUI: C1863616
Disease: ACROMELIC FRONTONASAL DYSOSTOSIS
ACROMELIC FRONTONASAL DYSOSTOSIS 		disease 0.740 None 1.000 1 1 2014 2017
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		bone morphogenetic protein receptor type 1B 0.573 0.615 1.00
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		disease 0.600 None 1.000 3 2 2005 2015
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		disease 0.950 None 1.000 3 8 2004 2019