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: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.100 None 0 0
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 1
Entrez Id: 196
Gene Symbol: AHR
AHR 		aryl hydrocarbon receptor 0.410 0.923 1.00
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.100 None 0 0
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C0234144
Disease: Dysgraphia
Dysgraphia 		disease 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		phenotype 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C4017262
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO
FAMILIAL ADENOMATOUS POLYPOSIS 1, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C4021146
Disease: Hyperpigmentation of the fundus
Hyperpigmentation of the fundus 		phenotype 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		disease 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		phenotype 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		phenotype 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		disease 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C0234410
Disease: Physiologic disinhibition
Physiologic disinhibition 		phenotype 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C0234509
Disease: Finger Agnosia
Finger Agnosia 		phenotype 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		disease 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		phenotype 0.100 None 0 1