PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5925760
rs5925760 		X 23365327 intron variant G/A snv 0.13
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs1555912049
rs1555912049 		X 23379829 frameshift variant TGCACAGCAAAGAC/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2010 2015
dbSNP: rs1555912049
rs1555912049 		X 23379829 frameshift variant TGCACAGCAAAGAC/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 5 2010 2015
dbSNP: rs1060499778
rs1060499778 		X 23379781 missense variant A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1555912102
rs1555912102 		1.000 X 23380132 stop gained G/A snv
CUI: C0795888
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 		0.700 0
dbSNP: rs878854360
rs878854360 		1.000 X 23393645 frameshift variant C/- delins
CUI: C0795888
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 		0.700 0
dbSNP: rs878854361
rs878854361 		1.000 X 23392961 frameshift variant C/- delins
CUI: C0795888
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 		0.700 0
dbSNP: rs879255587
rs879255587 		1.000 X 23393312 frameshift variant -/A delins
CUI: C0795888
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 		0.700 0
dbSNP: rs7052177
rs7052177 		1.000 0.040 X 23356765 intron variant T/A;G snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2015 2015