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: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.410 strong 1.000 0 0 2010 2010
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease 0.400 strong 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.400 strong 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C1836926
Disease: Bone spicule pigmentation of the retina
Bone spicule pigmentation of the retina 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		disease 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		disease 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		disease 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		disease 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C3151111
Disease: Abnormal light- and dark-adapted electroretinogram
Abnormal light- and dark-adapted electroretinogram 		phenotype 0.100 None 0 0
Entrez Id: 123016
Gene Symbol: TTC8
TTC8 		tetratricopeptide repeat domain 8 0.631 0.500 1.2E-06
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0