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: 4867
Gene Symbol: NPHP1
NPHP1 		nephrocystin 1 0.572 0.731 1.2E-17
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 strong 0 0
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 4547
Gene Symbol: MTTP
MTTP 		microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 440435
Gene Symbol: GPR179
GPR179 		G protein-coupled receptor 179 0.716 0.115 3.2E-27
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1 		transient receptor potential cation channel subfamily M member 1 0.626 0.462 1.6E-42
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 388939
Gene Symbol: PCARE
PCARE 		photoreceptor cilium actin regulator 0.674 0.346 3.0E-18
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 388531
Gene Symbol: RGS9BP
RGS9BP 		regulator of G protein signaling 9 binding protein 0.931 2.3E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		OPA1 mitochondrial dynamin like GTPase 0.510 0.846 0.99
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2 		interphotoreceptor matrix proteoglycan 2 0.659 0.308 2.8E-13
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		paired like homeodomain 2 0.489 0.808 0.98
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 5264
Gene Symbol: PHYH
PHYH 		phytanoyl-CoA 2-hydroxylase 0.659 0.577 2.4E-06
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 5148
Gene Symbol: PDE6G
PDE6G 		phosphodiesterase 6G 0.695 0.308 1.3E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C 		phosphodiesterase 6C 0.700 0.269 2.3E-16
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		phosphodiesterase 6A 0.691 0.269 6.6E-25
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2 		solute carrier family 45 member 2 0.626 0.538 1.7E-06
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP 		WD repeat containing planar cell polarity effector 0.576 0.769 1.1E-10
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		potassium inwardly rectifying channel subfamily J member 13 0.659 0.308 1.4E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A 		transmembrane protein 126A 0.805 0.269 2.2E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A 		FAM161 centrosomal protein A 0.691 0.308 5.1E-13
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 0 0
Entrez Id: 83938
Gene Symbol: LRMDA
LRMDA 		leucine rich melanocyte differentiation associated 0.659 0.577 2.6E-04
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 83394
Gene Symbol: PITPNM3
PITPNM3 		PITPNM family member 3 0.705 0.385 1.00
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0