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: 7450
Gene Symbol: VWF
VWF 		von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.310 None 1.000 0 0 2019 2019
Entrez Id: 79723
Gene Symbol: SUV39H2
SUV39H2 		suppressor of variegation 3-9 homolog 2 0.650 0.500 0.93
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.310 None 1.000 0 0 2019 2019
Entrez Id: 84260
Gene Symbol: TCHP
TCHP 		trichoplein keratin filament binding 0.570 0.692 1.8E-16
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease 0.310 None 1.000 0 1 2019 2019
Entrez Id: 8928
Gene Symbol: FOXH1
FOXH1 		forkhead box H1 0.615 0.654 4.2E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.310 None 1.000 0 2 2019 2019
Entrez Id: 92736
Gene Symbol: OTOP2
OTOP2 		otopetrin 2 0.861 0.269 3.6E-14
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.310 None 1.000 0 1 2019 2019
Entrez Id: 9437
Gene Symbol: NCR1
NCR1 		natural cytotoxicity triggering receptor 1 0.572 0.654 7.3E-11
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.310 None 1.000 0 0 2019 2019
Entrez Id: 10056
Gene Symbol: FARSB
FARSB 		phenylalanyl-tRNA synthetase subunit beta 0.682 0.500 3.3E-03
CUI: C3150910
Disease: Brain calcification Rajab type
Brain calcification Rajab type 		disease 0.700 None 1.000 3 8 2018 2018
Entrez Id: 745
Gene Symbol: MYRF
MYRF 		myelin regulatory factor 0.584 0.731 1.00
CUI: C4748946
Disease: CARDIAC-UROGENITAL SYNDROME
CARDIAC-UROGENITAL SYNDROME 		disease 0.600 None 1.000 3 1 2018 2018
Entrez Id: 1107
Gene Symbol: CHD3
CHD3 		chromodomain helicase DNA binding protein 3 0.670 0.577 1.00
CUI: C4748701
Disease: SNIJDERS BLOK-CAMPEAU SYNDROME
SNIJDERS BLOK-CAMPEAU SYNDROME 		disease 0.600 strong 1.000 2 1 2018 2019
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2 		chloride voltage-gated channel 2 0.626 0.462 5.5E-12
CUI: C1854107
Disease: Hyperaldosteronism, Familial, Type II
Hyperaldosteronism, Familial, Type II 		disease 0.610 None 1.000 2 4 2018 2019
Entrez Id: 1770
Gene Symbol: DNAH9
DNAH9 		dynein axonemal heavy chain 9 0.716 0.500 3.1E-60
CUI: C4749028
Disease: CILIARY DYSKINESIA, PRIMARY, 40
CILIARY DYSKINESIA, PRIMARY, 40 		disease 0.500 strong 1.000 2 3 2018 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: 341640
Gene Symbol: FREM2
FREM2 		FRAS1 related extracellular matrix 2 0.566 0.577 3.6E-11
CUI: C1852453
Disease: Cryptophthalmos, Unilateral or Bilateral, Isolated
Cryptophthalmos, Unilateral or Bilateral, Isolated 		disease 0.600 None 1.000 2 1 2018 2019
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		kinesin family member 5A 0.593 0.731 1.00
CUI: C4693609
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 		phenotype 0.600 None 1.000 2 5 2018 2018
Entrez Id: 5283
Gene Symbol: PIGH
PIGH 		phosphatidylinositol glycan anchor biosynthesis class H 0.760 0.231 0.23
CUI: C4747891
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 		disease 0.600 None 1.000 2 1 2018 2018
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS 		ADP-ribosylserine hydrolase 0.743 0.308 5.8E-04
CUI: C4748527
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		disease 0.600 strong 1.000 2 2 2018 2018
Entrez Id: 55187
Gene Symbol: VPS13D
VPS13D 		vacuolar protein sorting 13 homolog D 0.769 0.346 1.1E-06
CUI: C1846492
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 		disease 0.700 None 1.000 2 5 2018 2018
Entrez Id: 55503
Gene Symbol: TRPV6
TRPV6 		transient receptor potential cation channel subfamily V member 6 0.603 0.615 6.2E-07
CUI: C1300287
Disease: Transient neonatal hyperparathyroidism
Transient neonatal hyperparathyroidism 		phenotype 0.610 None 1.000 2 0 2018 2019
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		disease 0.600 strong 1.000 2 1 2018 2019
Entrez Id: 85016
Gene Symbol: CFAP300
CFAP300 		cilia and flagella associated protein 300 0.682 0.500 2.1E-06
CUI: C4748052
Disease: CILIARY DYSKINESIA, PRIMARY, 38
CILIARY DYSKINESIA, PRIMARY, 38 		disease 0.600 strong 1.000 2 1 2018 2018
Entrez Id: 10695
Gene Symbol: CNPY3
CNPY3 		canopy FGF signaling regulator 3 0.805 0.269 0.40
CUI: C4693663
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 		disease 0.600 strong 1.000 1 1 2018 2018
Entrez Id: 1105
Gene Symbol: CHD1
CHD1 		chromodomain helicase DNA binding protein 1 0.628 0.692 1.00
CUI: C4540131
Disease: PILAROWSKI-BJORNSSON SYNDROME
PILAROWSKI-BJORNSSON SYNDROME 		disease 0.700 None 1.000 1 4 2018 2018
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C1835697
Disease: Keratitis Fugax Hereditaria
Keratitis Fugax Hereditaria 		disease 0.400 None 1.000 1 1 2018 2018
Entrez Id: 115399
Gene Symbol: LRRC56
LRRC56 		leucine rich repeat containing 56 0.670 0.500 7.7E-10
CUI: C4748841
Disease: CILIARY DYSKINESIA, PRIMARY, 39
CILIARY DYSKINESIA, PRIMARY, 39 		disease 0.600 strong 1.000 1 0 2018 2018
Entrez Id: 122481
Gene Symbol: AK7
AK7 		adenylate kinase 7 0.839 0.231 3.1E-13
CUI: C4693784
Disease: SPERMATOGENIC FAILURE 27
SPERMATOGENIC FAILURE 27 		disease 0.400 None 1.000 1 1 2018 2018