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: 4010
Gene Symbol: LMX1B
LMX1B 		LIM homeobox transcription factor 1 beta 0.565 0.731 0.75
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.400 limited 0 0
Entrez Id: 7490
Gene Symbol: WT1
WT1 		WT1 transcription factor 0.422 0.808 1.00
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.400 limited 0 0
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.400 limited 0 0
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		paired box 2 0.495 0.731 0.67
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0
Entrez Id: 51196
Gene Symbol: PLCE1
PLCE1 		phospholipase C epsilon 1 0.572 0.654 5.7E-11
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 limited 0 0
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		spalt like transcription factor 1 0.539 0.808 1.00
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 limited 0 0
Entrez Id: 64423
Gene Symbol: INF2
INF2 		inverted formin, FH2 and WH2 domain containing 0.644 0.423 0.97
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3 		solute carrier family 12 member 3 0.493 0.808 3.0E-32
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0
Entrez Id: 7225
Gene Symbol: TRPC6
TRPC6 		transient receptor potential cation channel subfamily C member 6 0.514 0.692 3.0E-07
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		uromodulin 0.520 0.846 3.1E-17
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1 		NPHS1 adhesion molecule, nephrin 0.597 0.615 2.5E-14
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 moderate 0 0
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C 		cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 limited 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 limited 0 0
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5 		chloride voltage-gated channel 5 0.593 0.577 0.99
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3 		collagen type IV alpha 3 chain 0.552 0.692 1.1E-12
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		collagen type IV alpha 4 chain 0.644 0.500 6.7E-16
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 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
Entrez Id: 286204
Gene Symbol: CRB2
CRB2 		crumbs cell polarity complex component 2 0.678 0.269 1.5E-14
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 moderate 0 0
Entrez Id: 335
Gene Symbol: APOA1
APOA1 		apolipoprotein A1 0.429 0.885 5.5E-04
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 limited 0 0
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1 		anosmin 1 0.537 0.769 1.00
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 limited 0 0
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		NPHS2 stomatin family member, podocin 0.576 0.538 7.2E-09
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.300 strong 0 0