Source: INFERRED

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: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C4015038
Disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC 		disease 0.600 None 1.000 0 2 2014 2018
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C0423791
Disease: Maculopapular Lesion
Maculopapular Lesion 		phenotype 0.100 None 1.000 1 1 2015 2015
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.100 None 1.000 1 14 2017 2017
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C0566620
Disease: Nasal voice
Nasal voice 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		disease 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C0947912
Disease: Myasthenias
Myasthenias 		disease 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1527344
Disease: Dysphonia
Dysphonia 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		phenotype 0.100 None 0 0