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: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		disease 0.700 None 1.000 4 0 1982 2020
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		disease 0.700 None 1.000 4 0 2001 2019
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C4551974
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 		disease 0.400 None 1.000 4 0 2001 2012
Entrez Id: 406960
Gene Symbol: MIR184
MIR184 		microRNA 184 0.542 0.769
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		disease 0.670 None 1.000 3 0 2011 2017
Entrez Id: 407975
Gene Symbol: MIR17HG
MIR17HG 		miR-17-92a-1 cluster host gene 0.483 0.808
CUI: C3280489
Disease: FEINGOLD SYNDROME 2
FEINGOLD SYNDROME 2 		disease 0.520 None 1.000 3 0 2009 2017
Entrez Id: 7012
Gene Symbol: TERC
TERC 		telomerase RNA component 0.471 0.846
CUI: C3553622
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 		disease 0.600 strong 1.000 3 0 2002 2018
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		disease 0.700 None 1.000 2 0 2011 2019
Entrez Id: 407975
Gene Symbol: MIR17HG
MIR17HG 		miR-17-92a-1 cluster host gene 0.483 0.808
CUI: C0796068
Disease: Oculodigitoesophagoduodenal syndrome
Oculodigitoesophagoduodenal syndrome 		disease 0.520 moderate 1.000 2 0 2009 2018
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		disease 0.700 None 1.000 2 0 2000 2013
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		disease 0.950 None 1.000 2 0 2000 2019
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		disease 0.600 strong 1.000 2 0 2000 2016
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		disease 0.300 strong 1.000 2 0 2001 2006
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		disease 0.700 strong 1.000 2 0 1990 2017
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C3281200
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS 		disease 0.710 None 1.000 2 0 2016 2019
Entrez Id: 100134444
Gene Symbol: KCNJ18
KCNJ18 		potassium inwardly rectifying channel subfamily J member 18 0.722 0.346
CUI: C2750473
Disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 		disease 0.700 limited 1.000 1 0 2010 2016
Entrez Id: 100134444
Gene Symbol: KCNJ18
KCNJ18 		potassium inwardly rectifying channel subfamily J member 18 0.722 0.346
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		disease 0.310 limited 1.000 1 0 2010 2016
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 100288687
Gene Symbol: DUX4
DUX4 		double homeobox 4 0.604 0.500
CUI: C1834673
Disease: Facioscapulohumeral muscular dystrophy 1a
Facioscapulohumeral muscular dystrophy 1a 		disease 0.330 limited 1.000 1 0 2015 2019
Entrez Id: 100507012
Gene Symbol: BMPR1B-DT
BMPR1B-DT 		BMPR1B divergent transcript 1.000 0.038
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease 0.300 None 1.000 1 0 2005 2005
Entrez Id: 100886964
Gene Symbol: PTCSC3
PTCSC3 		papillary thyroid carcinoma susceptibility candidate 3 0.722 0.385
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease 0.340 None 1.000 1 0 2012 2017
Entrez Id: 101926885
Gene Symbol: OCA5
OCA5 		oculocutaneous albinism 5 (autosomal recessive) 0.931 0.154
CUI: C3888401
Disease: ALBINISM, OCULOCUTANEOUS, TYPE V
ALBINISM, OCULOCUTANEOUS, TYPE V 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		KCNQ1 opposite strand/antisense transcript 1 0.534 0.731
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		disease 0.600 None 0.981 1 0 1999 2018
Entrez Id: 148022
Gene Symbol: TICAM1
TICAM1 		toll like receptor adaptor molecule 1 0.593 0.846
CUI: C3553869
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 		disease 0.600 strong 1.000 1 0 2011 2015
Entrez Id: 149647
Gene Symbol: FAM71A
FAM71A 		family with sequence similarity 71 member A 1.000 0.077
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 2357
Gene Symbol: FPR1
FPR1 		formyl peptide receptor 1 0.576 0.769
CUI: C0031099
Disease: Periodontitis
Periodontitis 		disease 0.310 moderate 1.000 1 0 2011 2018