Source: CLINVAR

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: 5831
Gene Symbol: PYCR1
PYCR1 		pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease 0.660 limited 1.000 4 3 2009 2019
Entrez Id: 10599
Gene Symbol: SLCO1B1
SLCO1B1 		solute carrier organic anion transporter family member 1B1 0.538 0.731 1.1E-21
CUI: C0220991
Disease: Rotor Syndrome
Rotor Syndrome 		disease 0.730 limited 1.000 3 2 2007 2015
Entrez Id: 4353
Gene Symbol: MPO
MPO 		myeloperoxidase 0.377 0.923 7.1E-15
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		disease 0.800 limited 0.824 3 9 1979 2019
Entrez Id: 5213
Gene Symbol: PFKM
PFKM 		phosphofructokinase, muscle 0.666 0.500 3.8E-18
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.400 limited 1.000 3 1 1994 1997
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.640 limited 1.000 3 2 2007 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0023418
Disease: leukemia
leukemia 		disease 0.490 limited 1.000 3 1 1995 2018
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.500 limited 1.000 3 1 1998 2020
Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3 		potassium voltage-gated channel subfamily E regulatory subunit 3 0.666 0.423 0.47
CUI: C2751089
Disease: Brugada Syndrome 6
Brugada Syndrome 6 		disease 0.600 limited 1.000 2 2 2005 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		disease 0.900 limited 1.000 2 1 1996 2018
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		mediator complex subunit 13L 0.617 0.538 1.00
CUI: C1837341
Disease: Transposition of the Great Arteries, Dextro-Looped 1
Transposition of the Great Arteries, Dextro-Looped 1 		disease 0.700 limited 1.000 2 10 2003 2016
Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1 		dynein axonemal heavy chain 1 0.656 0.615 1.5E-26
CUI: C4539783
Disease: SPERMATOGENIC FAILURE 18
SPERMATOGENIC FAILURE 18 		disease 0.600 limited 1.000 2 14 2001 2018
Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1 		dynein axonemal heavy chain 1 0.656 0.615 1.5E-26
CUI: C4539798
Disease: CILIARY DYSKINESIA, PRIMARY, 37
CILIARY DYSKINESIA, PRIMARY, 37 		disease 0.600 limited 1.000 2 7 2001 2017
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2 		G protein subunit alpha transducin 2 0.674 0.231 7.0E-06
CUI: C1841721
Disease: ACHROMATOPSIA 4
ACHROMATOPSIA 4 		disease 0.810 limited 1.000 2 13 2002 2013
Entrez Id: 667
Gene Symbol: DST
DST 		dystonin 0.552 0.846 1.00
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		disease 0.710 limited 1.000 2 11 2010 2017
Entrez Id: 9364
Gene Symbol: RAB28
RAB28 		RAB28, member RAS oncogene family 0.792 0.077 2.5E-02
CUI: C3809299
Disease: CONE-ROD DYSTROPHY 18
CONE-ROD DYSTROPHY 18 		disease 0.900 limited 1.000 2 5 2013 2018
Entrez Id: 10464
Gene Symbol: PIBF1
PIBF1 		progesterone immunomodulatory binding factor 1 0.670 0.462 1.9E-11
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.620 limited 0.667 1 2 2015 2019
Entrez Id: 112
Gene Symbol: ADCY6
ADCY6 		adenylate cyclase 6 0.729 0.500 5.8E-03
CUI: C4225385
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8
LETHAL CONGENITAL CONTRACTURE SYNDROME 8 		disease 0.710 limited 1.000 1 2 2014 2020
Entrez Id: 1536
Gene Symbol: CYBB
CYBB 		cytochrome b-245 beta chain 0.452 0.885 1.00
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group 0.900 limited 0.986 1 2 1987 2020
Entrez Id: 23438
Gene Symbol: HARS2
HARS2 		histidyl-tRNA synthetase 2, mitochondrial 0.705 0.462 2.8E-05
CUI: C3554105
Disease: PERRAULT SYNDROME 2
PERRAULT SYNDROME 2 		disease 0.700 limited 1.000 1 7 2011 2020
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B 		TNF receptor superfamily member 13B 0.558 0.769 2.1E-15
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2 		disease 0.700 limited 1.000 1 3 2005 2017
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1 		adenosine monophosphate deaminase 1 0.573 0.692 1.9E-21
CUI: C3714933
Disease: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 		disease 0.700 limited 1.000 1 4 2000 2016
Entrez Id: 3762
Gene Symbol: KCNJ5
KCNJ5 		potassium inwardly rectifying channel subfamily J member 5 0.560 0.577 3.4E-04
CUI: C3150733
Disease: LONG QT SYNDROME 13
LONG QT SYNDROME 13 		disease 0.700 limited 1.000 1 1 2005 2010
Entrez Id: 51293
Gene Symbol: CD320
CD320 		CD320 molecule 0.729 0.462 3.5E-03
CUI: C3150900
Disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT 		disease 0.900 limited 1.000 1 1 2010 2013
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2 		doublecortin domain containing 2 0.546 0.769 5.7E-10
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.410 limited 1.000 1 1 2012 2015
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		disease 0.900 limited 1.000 1 16 1993 2016