Source: ORPHANET

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: 4750
Gene Symbol: NEK1
NEK1 		NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		disease 0.720 None 1.000 3 0 2011 2012
Entrez Id: 4750
Gene Symbol: NEK1
NEK1 		NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.680 None 1.000 1 0 2016 2019
Entrez Id: 4750
Gene Symbol: NEK1
NEK1 		NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C0026363
Disease: Mohr Syndrome
Mohr Syndrome 		disease 0.310 None 1.000 1 0 2016 2017
Entrez Id: 4750
Gene Symbol: NEK1
NEK1 		NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C2931889
Disease: Oral-facial-digital syndrome, type 2
Oral-facial-digital syndrome, type 2 		disease 0.300 None 1.000 1 0 2016 2016