Source: HPO

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: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.150 None 1.000 0 0 2012 2015
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype 0.110 None 1.000 0 0 2014 2014
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		phenotype 0.110 None 1.000 0 0 2013 2013
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C4024946
Disease: Focal white matter lesions
Focal white matter lesions 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C4024612
Disease: Tibialis muscle weakness
Tibialis muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1849148
Disease: Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity 		phenotype 0.100 None 0 0