rs1554691658, PTCH1

N. diseases: 11
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of skin adnexa morphology
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
2 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
Hair whorls
CUI: C1185616
Disease: Hair whorls
5 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
HOLOPROSENCEPHALY 7
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
7 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
MEGALENCEPHALY, AUTOSOMAL DOMINANT
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
5 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
Partial or complete agenesis of corpus callosum
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
6 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
Persistent cavum septum pellucidum
CUI: C1840380
Disease: Persistent cavum septum pellucidum
2 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
20 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0