Source: ORPHANET

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: 28444
Gene Symbol: IGHV3-21
IGHV3-21 		immunoglobulin heavy variable 3-21 0.780 0.192
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		disease 0.300 None 1.000 4 0 2011 2013
Entrez Id: 28444
Gene Symbol: IGHV3-21
IGHV3-21 		immunoglobulin heavy variable 3-21 0.780 0.192
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		disease 0.310 None 1.000 4 0 2007 2013
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease 0.340 None 1.000 4 0 2007 2015
Entrez Id: 3586
Gene Symbol: IL10
IL10 		interleukin 10 0.281 0.923 5.9E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.700 None 0.945 4 0 1994 2019
Entrez Id: 3663
Gene Symbol: IRF5
IRF5 		interferon regulatory factor 5 0.489 0.731 9.0E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.700 None 0.949 4 0 2005 2020
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease 0.400 None 1.000 4 0 2007 2019
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C1519086
Disease: Pilomyxoid astrocytoma
Pilomyxoid astrocytoma 		disease 0.300 None 1.000 4 0 2007 2012
Entrez Id: 3857
Gene Symbol: KRT9
KRT9 		keratin 9 0.678 0.346 1.1E-06
CUI: C0343110
Disease: Epidermolytic palmoplantar keratoderma of Vorner
Epidermolytic palmoplantar keratoderma of Vorner 		disease 0.300 None 1.000 4 0 2002 2014
Entrez Id: 3857
Gene Symbol: KRT9
KRT9 		keratin 9 0.678 0.346 1.1E-06
CUI: C2931735
Disease: Epidermolytic palmoplantar keratoderma Vorner type
Epidermolytic palmoplantar keratoderma Vorner type 		disease 0.500 None 1.000 4 0 2002 2014
Entrez Id: 3860
Gene Symbol: KRT13
KRT13 		keratin 13 0.631 0.692 6.4E-04
CUI: C1721005
Disease: Leukokeratosis, Hereditary Mucosal
Leukokeratosis, Hereditary Mucosal 		disease 0.540 None 1.000 4 0 1995 2018
Entrez Id: 412
Gene Symbol: STS
STS 		steroid sulfatase 0.431 0.846 0.81
CUI: C4274085
Disease: Syndromic recessive X-linked ichthyosis
Syndromic recessive X-linked ichthyosis 		disease 0.300 None 1.000 4 0 1988 2008
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C1836723
Disease: Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 		disease 0.300 None 1.000 4 0 1976 2015
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C4085248
Disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO 		phenotype 0.300 None 1.000 4 0 1976 2015
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		NADH:ubiquinone oxidoreductase subunit A1 0.636 0.423 0.55
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.700 None 1.000 4 0 2007 2018
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease 0.400 None 1.000 4 0 1994 2019
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		paired box 2 0.495 0.731 0.67
CUI: C0431692
Disease: Bilateral renal hypoplasia
Bilateral renal hypoplasia 		disease 0.510 None 1.000 4 0 1995 2018
Entrez Id: 5079
Gene Symbol: PAX5
PAX5 		paired box 5 0.487 0.654 1.00
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		disease 0.350 None 1.000 4 0 2003 2019
Entrez Id: 5079
Gene Symbol: PAX5
PAX5 		paired box 5 0.487 0.654 1.00
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		disease 0.400 None 1.000 4 0 2006 2019
Entrez Id: 51067
Gene Symbol: YARS2
YARS2 		tyrosyl-tRNA synthetase 2 0.663 0.462 3.0E-11
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		disease 0.560 None 1.000 4 0 2010 2017
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA 		platelet derived growth factor receptor alpha 0.415 0.808 1.00
CUI: C0346421
Disease: Chronic eosinophilic leukemia
Chronic eosinophilic leukemia 		disease 0.400 None 1.000 4 0 2004 2018
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		SUFU negative regulator of hedgehog signaling 0.493 0.769 1.00
CUI: C1334970
Disease: Medulloblastoma with extensive nodularity
Medulloblastoma with extensive nodularity 		disease 0.400 None 1.000 4 0 2002 2012
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		disease 0.400 None 1.000 4 0 2000 2015
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1 		HtrA serine peptidase 1 0.532 0.692 4.9E-04
CUI: C1838577
Disease: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 		disease 0.800 None 0.962 4 0 2002 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 None 0.983 4 0 2000 2020
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3 		arachidonate lipoxygenase 3 0.644 0.538 5.1E-20
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 0.650 None 1.000 4 0 2003 2016