Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368869806
rs368869806
PTCH1
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554691658
rs1554691658
PTCH1
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		GGGTCCACAACATCT 0.700 GeneticVariation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		T 0.700 CausalMutation CLINVAR

dbSNP: rs765371196
rs765371196
PTCH1 ; LOC100507346
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		C 0.700 GeneticVariation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016
dbSNP: rs147067171
rs147067171
PTCH1
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		C 0.700 GeneticVariation CLINVAR Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. 26893459

2016
dbSNP: rs368869806
rs368869806
PTCH1
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587776689
rs587776689
PTCH1
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863225055
rs863225055
PTCH1
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus 		C 0.700 CausalMutation CLINVAR

dbSNP: rs878853856
rs878853856
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		G 0.800 GeneticVariation CLINVAR

dbSNP: rs878853852
rs878853852
PTCH1 ; LOC100507346
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853852
rs878853852
PTCH1 ; LOC100507346
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs878853852
rs878853852
PTCH1 ; LOC100507346
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		C 0.700 CausalMutation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs878853849
rs878853849
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		C 0.700 GeneticVariation CLINVAR Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. 16301862

2006
dbSNP: rs878853849
rs878853849
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		C 0.700 GeneticVariation CLINVAR PTCH mutations: distribution and analyses. 16419085

2006
dbSNP: rs878853847
rs878853847
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs864622583
rs864622583
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		A 0.700 CausalMutation CLINVAR