Source: UNIPROT

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: 2622
Gene Symbol: GAS8
GAS8 		growth arrest specific 8 0.636 0.654 1.1E-12
CUI: C4225230
Disease: CILIARY DYSKINESIA, PRIMARY, 33
CILIARY DYSKINESIA, PRIMARY, 33 		disease 0.900 limited 1.000 3 1 2015 2016
Entrez Id: 3035
Gene Symbol: HARS1
HARS1 		histidyl-tRNA synthetase 1 0.569 0.808 2.4E-06
CUI: C4225265
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W 		disease 0.700 limited 1.000 3 7 2013 2018
Entrez Id: 3300
Gene Symbol: DNAJB2
DNAJB2 		DnaJ heat shock protein family (Hsp40) member B2 0.743 0.192 5.4E-05
CUI: C3553989
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 		disease 0.700 limited 1.000 3 1 2012 2016
Entrez Id: 3791
Gene Symbol: KDR
KDR 		kinase insert domain receptor 0.378 0.885 1.00
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE 		disease 0.700 limited 1.000 3 2 2002 2008
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 0.554 0.769 4.5E-03
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		disease 0.600 limited 1.000 3 2 1998 2006
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2 		interphotoreceptor matrix proteoglycan 2 0.659 0.308 2.8E-13
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		disease 0.600 limited 1.000 3 2 2010 2017
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		sodium voltage-gated channel beta subunit 3 0.686 0.269 5.1E-02
CUI: C2751088
Disease: Brugada Syndrome 7
Brugada Syndrome 7 		disease 0.900 limited 1.000 3 3 2009 2016
Entrez Id: 79695
Gene Symbol: GALNT12
GALNT12 		polypeptide N-acetylgalactosaminyltransferase 12 0.780 0.269 9.4E-07
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		disease 0.700 limited 1.000 3 6 2004 2016
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C2676285
Disease: Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		disease 0.700 limited 1.000 3 1 2008 2019
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C1970163
Disease: RETINITIS PIGMENTOSA 37 (disorder)
RETINITIS PIGMENTOSA 37 (disorder) 		disease 0.700 limited 1.000 2 1 2000 2016
Entrez Id: 10654
Gene Symbol: PMVK
PMVK 		phosphomevalonate kinase 0.769 0.308 2.7E-05
CUI: C0949506
Disease: Porokeratosis of Mibelli
Porokeratosis of Mibelli 		disease 0.710 limited 1.000 2 0 2015 2017
Entrez Id: 10747
Gene Symbol: MASP2
MASP2 		mannan binding lectin serine peptidase 2 0.582 0.692 3.0E-14
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		disease 0.710 limited 0.875 2 2 2003 2020
Entrez Id: 10758
Gene Symbol: TRAF3IP2
TRAF3IP2 		TRAF3 interacting protein 2 0.585 0.692 1.6E-09
CUI: C3279754
Disease: PSORIASIS 13, SUSCEPTIBILITY TO
PSORIASIS 13, SUSCEPTIBILITY TO 		disease 0.500 limited 1.000 2 1 2010 2014
Entrez Id: 134430
Gene Symbol: WDR36
WDR36 		WD repeat domain 36 0.751 0.192 5.7E-04
CUI: C1835933
Disease: Glaucoma 1, Open Angle, G
Glaucoma 1, Open Angle, G 		disease 0.700 limited 1.000 2 5 2005 2008
Entrez Id: 1355
Gene Symbol: COX15
COX15 		cytochrome c oxidase assembly homolog COX15 0.638 0.538 1.1E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.740 limited 1.000 2 2 2002 2016
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		crystallin alpha B 0.515 0.731 2.2E-02
CUI: C3554649
Disease: CARDIOMYOPATHY, DILATED, 1II
CARDIOMYOPATHY, DILATED, 1II 		disease 0.700 limited 1.000 2 2 2006 2017
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		chromosome 8 open reading frame 37 0.628 0.538 2.4E-05
CUI: C4319932
Disease: BARDET-BIEDL SYNDROME 21
BARDET-BIEDL SYNDROME 21 		disease 0.710 limited 1.000 2 1 2016 2016
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2 		cytochrome P450 family 11 subfamily B member 2 0.553 0.615 7.1E-19
CUI: C0268293
Disease: Corticosterone Methyl Oxidase Type I Deficiency
Corticosterone Methyl Oxidase Type I Deficiency 		disease 0.710 limited 1.000 2 1 1997 2014
Entrez Id: 1630
Gene Symbol: DCC
DCC 		DCC netrin 1 receptor 0.471 0.808 0.99
CUI: C1834870
Disease: MIRROR MOVEMENTS 1
MIRROR MOVEMENTS 1 		phenotype 0.700 limited 1.000 2 6 2010 2017
Entrez Id: 1757
Gene Symbol: SARDH
SARDH 		sarcosine dehydrogenase 0.523 0.846 5.3E-16
CUI: C0268563
Disease: Sarcosinemia
Sarcosinemia 		phenotype 0.730 limited 1.000 2 2 1986 2016
Entrez Id: 2056
Gene Symbol: EPO
EPO 		erythropoietin 0.381 0.885 1.1E-02
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		disease 0.600 limited 1.000 2 4 2016 2018
Entrez Id: 23279
Gene Symbol: NUP160
NUP160 		nucleoporin 160 0.751 0.346 6.8E-06
CUI: C4748552
Disease: NEPHROTIC SYNDROME, TYPE 19
NEPHROTIC SYNDROME, TYPE 19 		disease 0.500 limited 1.000 2 1 2018 2019
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2 		zinc finger protein, FOG family member 2 0.565 0.731 1.00
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 1.000 limited 0.929 2 3 2000 2018
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 2 1 2011 2020
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP 		ADP ribosylation factor like GTPase 2 binding protein 0.647 0.654 3.3E-05
CUI: C4747737
Disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS 		disease 0.900 limited 1.000 2 1 2013 2018