Source: CURATED

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: 5327
Gene Symbol: PLAT
PLAT 		plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		disease 0.300 None 1.000 24 0 1995 2011
Entrez Id: 5914
Gene Symbol: RARA
RARA 		retinoic acid receptor alpha 0.470 0.846 0.96
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease 0.700 None 0.981 24 0 1990 2020
Entrez Id: 3558
Gene Symbol: IL2
IL2 		interleukin 2 0.336 0.885 0.48
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.400 None 1.000 22 0 1990 2019
Entrez Id: 183
Gene Symbol: AGT
AGT 		angiotensinogen 0.367 0.923 5.0E-08
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype 0.500 None 1.000 21 0 2001 2019
Entrez Id: 183
Gene Symbol: AGT
AGT 		angiotensinogen 0.367 0.923 5.0E-08
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		phenotype 0.300 None 1.000 21 0 2001 2019
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group 0.600 None 1.000 21 0 1990 2019
Entrez Id: 5371
Gene Symbol: PML
PML 		promyelocytic leukemia 0.477 0.846 0.21
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease 0.600 None 0.978 21 0 1990 2020
Entrez Id: 5327
Gene Symbol: PLAT
PLAT 		plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		phenotype 0.500 None 1.000 20 0 1991 2011
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease 0.400 None 1.000 20 0 1980 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms 		disease 0.310 None 1.000 20 0 1980 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0393699
Disease: Symptomatic Infantile Spasms
Symptomatic Infantile Spasms 		disease 0.310 None 1.000 20 0 1980 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0546878
Disease: Nodding spasm
Nodding spasm 		disease 0.300 None 1.000 20 0 1980 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0553558
Disease: Jackknife Seizures
Jackknife Seizures 		disease 0.300 None 1.000 20 0 1980 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.300 None 1.000 20 0 1980 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C1527306
Disease: spasmus nutans
spasmus nutans 		disease 0.300 None 1.000 20 0 1980 2010
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease 0.330 None 1.000 20 0 1980 2020
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		disease 0.700 definitive 0.987 20 0 2002 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		disease 0.600 None 0.973 19 0 1994 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		disease 0.400 None 1.000 19 0 1989 2020
Entrez Id: 2395
Gene Symbol: FXN
FXN 		frataxin 0.510 0.654 0.34
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		disease 0.900 definitive 0.997 18 0 1976 2020
Entrez Id: 3440
Gene Symbol: IFNA2
IFNA2 		interferon alpha 2 0.442 0.885
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.400 None 1.000 18 0 1993 2020
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.330 definitive 1.000 18 0 2003 2018
Entrez Id: 2707
Gene Symbol: GJB3
GJB3 		gap junction protein beta 3 0.621 0.462 2.2E-03
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		disease 0.900 strong 0.967 17 0 1998 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease 0.670 definitive 1.000 17 0 1998 2016
Entrez Id: 3827
Gene Symbol: KNG1
KNG1 		kininogen 1 0.481 0.885 3.2E-10
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		phenotype 0.560 None 0.958 17 0 1988 2019