Source: ALL

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: 4810
Gene Symbol: NHS
NHS 		NHS actin remodeling regulator 0.466 0.846 1.00
CUI: C2930878
Disease: Cataract, congenital, with microcornea or slight microphthalmia
Cataract, congenital, with microcornea or slight microphthalmia 		disease 0.500 strong 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		disease 0.500 strong 0 0
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		mitofusin 2 0.471 0.846 0.99
CUI: C1836485
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder) 		disease 0.500 None 0 0
Entrez Id: 6094
Gene Symbol: ROM1
ROM1 		retinal outer segment membrane protein 1 0.579 0.654 4.1E-04
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		disease 0.500 limited 0 0
Entrez Id: 6049
Gene Symbol: RNF6
RNF6 		ring finger protein 6 0.656 0.615 1.4E-02
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease 0.500 None 0 0
Entrez Id: 845
Gene Symbol: CASQ2
CASQ2 		calsequestrin 2 0.691 0.385 1.4E-12
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.500 0 0
Entrez Id: 1630
Gene Symbol: DCC
DCC 		DCC netrin 1 receptor 0.471 0.808 0.99
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		disease 0.500 None 0 1
Entrez Id: 23224
Gene Symbol: SYNE2
SYNE2 		spectrin repeat containing nuclear envelope protein 2 0.623 0.692 1.7E-25
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		disease 0.500 None 0 0
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN 		interleukin 1 receptor antagonist 0.373 0.923 3.1E-02
CUI: C2675112
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 (finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 (finding) 		disease 0.500 None 0 0
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1 		crystallin beta B1 0.686 0.231 7.0E-04
CUI: C1969062
Disease: Cataract, Congenital Nuclear, Autosomal Recessive 3
Cataract, Congenital Nuclear, Autosomal Recessive 3 		disease 0.500 strong 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		disease 0.500 strong 0 0
Entrez Id: 1636
Gene Symbol: ACE
ACE 		angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C2675470
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (finding) 		disease 0.500 None 0 0
Entrez Id: 6794
Gene Symbol: STK11
STK11 		serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		disease 0.500 None 0 1
Entrez Id: 3868
Gene Symbol: KRT16
KRT16 		keratin 16 0.565 0.769 1.5E-14
CUI: C1721007
Disease: Pachyonychia Congenita, Type 2 (disorder)
Pachyonychia Congenita, Type 2 (disorder) 		disease 0.500 None 0 0
Entrez Id: 1630
Gene Symbol: DCC
DCC 		DCC netrin 1 receptor 0.471 0.808 0.99
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease 0.500 None 0 0
Entrez Id: 6416
Gene Symbol: MAP2K4
MAP2K4 		mitogen-activated protein kinase kinase 4 0.559 0.692 1.00
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease 0.500 None 0 1
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN 		interleukin 1 receptor antagonist 0.373 0.923 3.1E-02
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease 0.500 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C3714043
Disease: Trisomy Xq28
Trisomy Xq28 		disease 0.500 None 0 0
Entrez Id: 6908
Gene Symbol: TBP
TBP 		TATA-box binding protein 0.552 0.846 1.5E-02
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease 0.500 None 0 0
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C1836302
Disease: Carotid Intimal Medial Thickness 1
Carotid Intimal Medial Thickness 1 		disease 0.500 None 0 0
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C4083008
Disease: Guillain-Barre Syndrome, Familial
Guillain-Barre Syndrome, Familial 		disease 0.500 None 0 0
Entrez Id: 22800
Gene Symbol: RRAS2
RRAS2 		RAS related 2 0.656 0.500 0.97
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		disease 0.500 None 0 0
Entrez Id: 2690
Gene Symbol: GHR
GHR 		growth hormone receptor 0.490 0.846 8.4E-05
CUI: C3888131
Disease: INCREASED RESPONSIVENESS TO GROWTH HORMONE
INCREASED RESPONSIVENESS TO GROWTH HORMONE 		phenotype 0.500 None 0 0
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		ataxin 3 0.521 0.808 0.11
CUI: C0751669
Disease: Machado-Joseph Disease Type II
Machado-Joseph Disease Type II 		disease 0.500 None 0 0
Entrez Id: 5327
Gene Symbol: PLAT
PLAT 		plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C2676721
Disease: Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator
Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator 		disease 0.500 None 0 0