PTCH1

patched 1

Identifier: CI-GENE-00022399
Entity page: /gene/PTCH1 ↗
Edges: 6,009

Neighbours: 8 cancers15 variants
Drawn: 23 of 23 neighbours (cap 60); table lists every fetched edge

Accepted: cancer:<slug>, gene:<symbol>, variant:<slug>, drug:<slug>, trial:<NCT id>, or a bare CI id. Find slugs with search.

Most connectedLung Non-Small Cell Carcinoma 3,147 Malignant Colorectal Neoplasm 1,866 ABL1 298 EGFR 276 Imatinib 450 Dasatinib 321

Neighbourhood

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Focus at the centre; neighbours grouped by entity type. Click a node to re-centre the graph on it; ↗ opens the entity page. Hover a spoke for relationship, evidence level, cancer context and source.

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Source-native edges first (aggregated per neighbour, direction, evidence level and source), then derived registry links. Up to 15 per relationship (10 trials); “show all” raises one group to 200.

Relationship	Neighbour	Direction	Evidence level	Cancer context	Support	Claim	Source	Expand
PTCH1 associated with …ASSOCIATED_WITH2 of 2
→ associated with	Medulloblastomasubtype 2 source records aggregated	supports	B	Medulloblastoma	2	Curated	civic	graph →
→ associated with	Malignant Neoplasmcancer_family	supports	B

PTCH1 has variant …HAS_VARIANTderived15 of 6,000show all (up to 200)
→ has variant	Mutationother 2 accepted CIViC evidence items	—	—	Malignant Neoplasm,Medulloblastoma	2	Curated	civic	graph →
→ has variant	LOHloss_of_heterozygosity 1 accepted CIViC evidence items	—	—	Medulloblastoma	1	Curated	civic	graph →
→ has variant	Deletiondeletion_cna no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	GRCh37/hg19 9q22.32(chr9:98207091-98210940)x1deletion_cna no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	Loss-of-function no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	NC_000009.12:g.(?_95101697)_(95508371_?)deldeletion no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	NC_000009.12:g.(?_95442982)_(95508549_?)deldeletion no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	NC_000009.12:g.(?_95446906)_(95508367_?)deldeletion no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	NC_000009.12:g.95449841dupinsertion no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	NC_000009.12:g.(?_95467116)_(95469931_?)deldeletion no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	NC_000009.12:g.95482041_95482042insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATATTCTATTATCinsertion no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	NM_000264.3(PTCH1):c.3168+763_4244deldeletion no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	NM_000264.3(PTCH1):c.3450delGdeletion no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	NM_000264.3(PTCH1):c.586_591delCAGTGGdeletion no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →
→ has variant	NM_000264.5(PTCH1):c.1001_1010del (p.Tyr334fs)deletion no accepted CIViC evidence item (variant record only)	—	—	not mapped	0	Observed	civic	graph →

PTCH1 has variant …HAS_VARIANTderived15 of 6,000show all (up to 200)

→ has variant

Mutationother

2 accepted CIViC evidence items

—

Malignant Neoplasm,Medulloblastoma

Curated

PTCH1 altered in cohorts of …ALTERED_INderived7 of 7
→ altered in cohorts of	Skin Basal Cell Carcinoma 221 / 293 cases (75 %) · ssm · bcc_unige_2016	—	—	Skin Basal Cell Carcinoma	1	Observed	cbioportal	graph →
→ altered in cohorts of	Endometrial Carcinoma 37 / 181 cases (20 %) · ssm · ucec_ccr_msk_2022	—	—	Endometrial Carcinoma	1	Observed	cbioportal	graph →
→ altered in cohorts of	Medulloblastomasubtype 51 / 491 cases (10 %) · ssm · mbl_dkfz_2017	—	—	Medulloblastoma	1	Observed	cbioportal	graph →
→ altered in cohorts of	Cutaneous Melanoma 46 / 696 cases (6.6 %) · ssm · mel_mskimpact_2020	—	—	Cutaneous Melanoma	1	Observed	cbioportal	graph →
→ altered in cohorts of	Rectal Adenocarcinoma 385 / 7,237 cases (5.3 %) · ssm · crc_msk_2026	—	—	Rectal Adenocarcinoma	1	Observed	cbioportal	graph →
→ altered in cohorts of	Invasive Breast Carcinoma 28 / 527 cases (5.3 %) · ssm · brca_msk_2025	—	—	Invasive Breast Carcinoma	1	Observed	cbioportal	graph →
→ altered in cohorts of	Colorectal Adenocarcinoma 60 / 1,134 cases (5.3 %) · ssm · crc_msk_2017	—	—	Colorectal Adenocarcinoma	1	Observed	cbioportal	graph →

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