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: 112752
Gene Symbol: IFT43
IFT43 		intraflagellar transport 43 0.617 0.577 1.8E-11
CUI: C3279807
Disease: CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 3 		disease 0.300 None 1.000 4 0 2011 2018
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12 		protocadherin 12 0.722 0.346 2.9E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 None 1.000 4 0 2008 2019
Entrez Id: 7381
Gene Symbol: UQCRB
UQCRB 		ubiquinol-cytochrome c reductase binding protein 0.736 0.308 1.6E-02
CUI: C3554606
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 		disease 0.300 None 1.000 4 0 2003 2017
Entrez Id: 10848
Gene Symbol: PPP1R13L
PPP1R13L 		protein phosphatase 1 regulatory subunit 13 like 0.539 0.692 3.2E-02
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		phenotype 0.300 strong 1.000 3 0 2005 2015
Entrez Id: 10848
Gene Symbol: PPP1R13L
PPP1R13L 		protein phosphatase 1 regulatory subunit 13 like 0.539 0.692 3.2E-02
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.300 strong 1.000 3 0 2005 2015
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		ER lipid raft associated 2 0.647 0.500 6.7E-04
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype 0.300 None 1.000 3 0 2012 2017
Entrez Id: 1130
Gene Symbol: LYST
LYST 		lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0001916
Disease: Albinism
Albinism 		disease 0.300 strong 1.000 3 0 2002 2014
Entrez Id: 1130
Gene Symbol: LYST
LYST 		lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group 0.300 strong 1.000 3 0 2002 2014
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB 		chloride voltage-gated channel Kb 0.593 0.692 1.4E-22
CUI: C4310805
Disease: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS 		disease 0.300 None 1.000 3 0 2006 2013
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		FA complementation group C 0.507 0.808 2.8E-13
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype 0.300 strong 1.000 3 0 1992 2016
Entrez Id: 2189
Gene Symbol: FANCG
FANCG 		FA complementation group G 0.556 0.769 2.5E-14
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype 0.300 strong 1.000 3 0 1998 2017
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA 		aldolase, fructose-bisphosphate A 0.631 0.615 1.3E-03
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.300 strong 1.000 3 0 1981 2016
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1 		glutamate receptor interacting protein 1 0.581 0.769 0.51
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1 		disease 0.300 None 1.000 3 0 2006 2014
Entrez Id: 255758
Gene Symbol: TCTEX1D2
TCTEX1D2 		Tctex1 domain containing 2 0.751 0.346 3.2E-04
CUI: C4479416
Disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY 		disease 0.300 strong 1.000 3 0 2015 2017
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3 		C2 domain containing 3 centriole elongation regulator 0.636 0.538 4.4E-19
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		disease 0.300 None 1.000 3 0 2014 2016
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5 		glutaredoxin 5 0.659 0.538 0.75
CUI: C4225425
Disease: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY 		disease 0.300 strong 1.000 3 0 2007 2016
Entrez Id: 51339
Gene Symbol: DACT1
DACT1 		dishevelled binding antagonist of beta catenin 1 0.547 0.692 0.40
CUI: C4479534
Disease: TOWNES-BROCKS SYNDROME 2
TOWNES-BROCKS SYNDROME 2 		disease 0.300 limited 1.000 3 0 2009 2017
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		disease 0.300 strong 1.000 3 0 1999 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0267537
Disease: Typhlitis
Typhlitis 		disease 0.300 strong 1.000 3 0 1999 2009
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0400823
Disease: Neutropenic colitis
Neutropenic colitis 		disease 0.300 strong 1.000 3 0 1999 2009
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		disease 0.300 None 1.000 3 0 2014 2014
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		ADP ribosylation factor like GTPase 6 0.636 0.462 1.0E-02
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		disease 0.300 None 1.000 3 0 2004 2009
Entrez Id: 10000
Gene Symbol: AKT3
AKT3 		AKT serine/threonine kinase 3 0.512 0.808 1.00
CUI: C4012727
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		disease 0.300 None 1.000 2 0 2012 2012
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		NIPA magnesium transporter 1 0.682 0.462 5.9E-03
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 None 1.000 2 0 2003 2005
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		collagen type V alpha 2 chain 0.568 0.731 1.00
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		disease 0.300 strong 1.000 2 0 2017 2018