Source: GENOMICS_ENGLAND

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: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		disease 0.960 None 1.000 1 0 2001 2019
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		disease 0.700 None 1.000 2 0 2003 2016
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		disease 0.700 None 1.000 1 0 2003 2008
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C2673883
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA
RENAL-HEPATIC-PANCREATIC DYSPLASIA 		disease 0.540 None 1.000 0 0 2008 2013
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.510 None 1.000 0 0 2010 2012
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease 0.500 None 1.000 0 0 2001 2017
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease 0.330 None 1.000 0 0 2013 2017
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		disease 0.300 limited 0 0
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group 0.300 strong 0 0
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.300 None 0 0
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0