PTCH2 (patched 2)

Gene

• Entrez ID: 8643
• Gene name: Patched 2
• Gene symbol: PTCH2
• Synonyms (NCBI Gene): PTC2, SLC65B2
• Chromosome: 1
• Chromosome location: 1p34.1
• Summary: This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56126236	GA>-	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Stop gained, coding sequence variant
rs121434397	C>T	Pathogenic	Missense variant, coding sequence variant
rs587776628	G>A	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT498821	hsa-miR-4484	PAR-CLIP	20371350
MIRT508529	hsa-miR-6074	PAR-CLIP	20371350
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	20371350
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	20371350
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	20371350
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT498817	hsa-miR-491-3p	PAR-CLIP	20371350
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT498821	hsa-miR-4484	PAR-CLIP	20371350
MIRT508529	hsa-miR-6074	PAR-CLIP	20371350
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	20371350
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	20371350
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	20371350
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT498817	hsa-miR-491-3p	PAR-CLIP	20371350
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT498821	hsa-miR-4484	PAR-CLIP	20371350
MIRT508529	hsa-miR-6074	PAR-CLIP	20371350
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	20371350
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	20371350
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	20371350
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT498817	hsa-miR-491-3p	PAR-CLIP	20371350
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT498821	hsa-miR-4484	PAR-CLIP	20371350
MIRT508529	hsa-miR-6074	PAR-CLIP	20371350
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	20371350
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT498817	hsa-miR-491-3p	PAR-CLIP	20371350
MIRT498821	hsa-miR-4484	PAR-CLIP	21572407
MIRT508529	hsa-miR-6074	PAR-CLIP	21572407
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	21572407
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	21572407
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	21572407
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	21572407
MIRT498817	hsa-miR-491-3p	PAR-CLIP	21572407
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	21572407
MIRT508529	hsa-miR-6074	PAR-CLIP	23446348
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	23446348
MIRT498821	hsa-miR-4484	PAR-CLIP	23446348
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	23446348
MIRT498817	hsa-miR-491-3p	PAR-CLIP	23446348
MIRT498821	hsa-miR-4484	PAR-CLIP	23446348
MIRT508529	hsa-miR-6074	PAR-CLIP	23446348
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	23446348
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	23446348
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	23446348
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	23446348
MIRT498817	hsa-miR-491-3p	PAR-CLIP	23446348
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	23446348
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	23446348
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	23446348
MIRT498821	hsa-miR-4484	PAR-CLIP	24398324
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	24398324
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	24398324
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	24398324
MIRT498817	hsa-miR-491-3p	PAR-CLIP	24398324
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	24398324
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	24398324
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	24398324
MIRT498821	hsa-miR-4484	PAR-CLIP	27292025
MIRT498821	hsa-miR-4484	PAR-CLIP	27292025
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	27292025
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	27292025
MIRT498817	hsa-miR-491-3p	PAR-CLIP	27292025
MIRT498817	hsa-miR-491-3p	PAR-CLIP	27292025
MIRT498821	hsa-miR-4484	PAR-CLIP	20371350
MIRT508529	hsa-miR-6074	PAR-CLIP	20371350
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	20371350
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	20371350
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	20371350
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT498817	hsa-miR-491-3p	PAR-CLIP	20371350
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT498821	hsa-miR-4484	PAR-CLIP	20371350
MIRT508529	hsa-miR-6074	PAR-CLIP	20371350
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	20371350
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	20371350
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	20371350
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT498817	hsa-miR-491-3p	PAR-CLIP	20371350
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT498821	hsa-miR-4484	PAR-CLIP	20371350
MIRT508529	hsa-miR-6074	PAR-CLIP	20371350
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	20371350
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	20371350
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	20371350
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT498817	hsa-miR-491-3p	PAR-CLIP	20371350
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	20371350
MIRT498821	hsa-miR-4484	PAR-CLIP	20371350
MIRT508529	hsa-miR-6074	PAR-CLIP	20371350
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	20371350
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT498817	hsa-miR-491-3p	PAR-CLIP	20371350
MIRT498821	hsa-miR-4484	PAR-CLIP	21572407
MIRT508529	hsa-miR-6074	PAR-CLIP	21572407
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	21572407
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	21572407
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	21572407
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	21572407
MIRT498817	hsa-miR-491-3p	PAR-CLIP	21572407
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	21572407
MIRT508529	hsa-miR-6074	PAR-CLIP	23446348
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	23446348
MIRT498821	hsa-miR-4484	PAR-CLIP	23446348
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	23446348
MIRT498817	hsa-miR-491-3p	PAR-CLIP	23446348
MIRT498821	hsa-miR-4484	PAR-CLIP	23446348
MIRT508529	hsa-miR-6074	PAR-CLIP	23446348
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	23446348
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	23446348
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	23446348
MIRT508528	hsa-miR-4709-3p	PAR-CLIP	23446348
MIRT498817	hsa-miR-491-3p	PAR-CLIP	23446348
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	23446348
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	23446348
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	23446348
MIRT498821	hsa-miR-4484	PAR-CLIP	24398324
MIRT498820	hsa-miR-4787-3p	PAR-CLIP	24398324
MIRT498819	hsa-miR-6845-3p	PAR-CLIP	24398324
MIRT498818	hsa-miR-6873-3p	PAR-CLIP	24398324
MIRT498817	hsa-miR-491-3p	PAR-CLIP	24398324
MIRT191170	hsa-miR-4768-5p	PAR-CLIP	24398324
MIRT191173	hsa-miR-6833-3p	PAR-CLIP	24398324
MIRT191172	hsa-miR-6809-3p	PAR-CLIP	24398324
MIRT1272129	hsa-miR-1266	CLIP-seq
MIRT1272130	hsa-miR-141	CLIP-seq
MIRT1272131	hsa-miR-146a	CLIP-seq
MIRT1272132	hsa-miR-146b-5p	CLIP-seq
MIRT1272133	hsa-miR-200a	CLIP-seq
MIRT1272134	hsa-miR-3150a-5p	CLIP-seq
MIRT1272135	hsa-miR-3150b-5p	CLIP-seq
MIRT1272136	hsa-miR-3612	CLIP-seq
MIRT1272137	hsa-miR-3622a-5p	CLIP-seq
MIRT1272138	hsa-miR-3649	CLIP-seq
MIRT1272139	hsa-miR-4270	CLIP-seq
MIRT1272140	hsa-miR-4441	CLIP-seq
MIRT1272141	hsa-miR-4459	CLIP-seq
MIRT1272142	hsa-miR-4518	CLIP-seq
MIRT1272143	hsa-miR-4688	CLIP-seq
MIRT1272144	hsa-miR-4695-5p	CLIP-seq
MIRT1272145	hsa-miR-510	CLIP-seq
MIRT1272146	hsa-miR-513a-5p	CLIP-seq
MIRT1272147	hsa-miR-650	CLIP-seq
MIRT2306271	hsa-miR-3613-3p	CLIP-seq
MIRT2306272	hsa-miR-371b-5p	CLIP-seq
MIRT2306273	hsa-miR-873	CLIP-seq
MIRT2306271	hsa-miR-3613-3p	CLIP-seq
MIRT2393167	hsa-miR-3664-3p	CLIP-seq
MIRT2306272	hsa-miR-371b-5p	CLIP-seq
MIRT2306273	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	IMP	18285427
GO:0001709	Process	Cell fate determination	IEA
GO:0005119	Function	Smoothened binding	IBA
GO:0005119	Function	Smoothened binding	IEA
GO:0005119	Function	Smoothened binding	IPI	9811851
GO:0005886	Component	Plasma membrane	IBA
GO:0008158	Function	Hedgehog receptor activity	IBA
GO:0008158	Function	Hedgehog receptor activity	IEA
GO:0008158	Function	Hedgehog receptor activity	TAS	11001584
GO:0008544	Process	Epidermis development	IEA
GO:0009957	Process	Epidermal cell fate specification	IEA
GO:0016020	Component	Membrane	IEA
GO:0042633	Process	Hair cycle	IEA
GO:0043588	Process	Skin development	IEA
GO:0045606	Process	Positive regulation of epidermal cell differentiation	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IBA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	TAS	11001584
GO:0097108	Function	Hedgehog family protein binding	IBA
GO:0097108	Function	Hedgehog family protein binding	IEA
GO:0097108	Function	Hedgehog family protein binding	IPI	9811851
GO:0097108	Function	Hedgehog family protein binding	TAS	11001584

Other IDs

• MIM: 603673
• HGNC: 9586
• e!Ensembl: ENSG00000117425

Protein

• UniProt ID: Q9Y6C5
• Protein name: Protein patched homolog 2 (PTC2)
• Protein function: Plays a role in the control of cellular growth (PubMed:18285427). May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12349	Sterol-sensing	418 → 570	Sterol-sensing domain of SREBP cleavage-activation	Family
  PF02460	Patched	903 → 1116	Patched family	Family

• Sequence:

  MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLLFSLGCGIQRHCGKVLF
  LGLLAFGALALGLRMAIIETNLEQLWVEVGSRVSQELHYTKEKLGEEAAYTSQMLIQTAR
  QEGENILTPEALGLHLQAALTASKVQVSLYGKSWDLNKICYKSGVPLIENGMIERMIEKL
  FPCVILTPLDCFWEGAKLQGGSAYLPGRPDIQWTNLDPEQLLEELGPFASLEGFRELLDK
  AQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVAHELSGGCHGFSHKFMHWQEELLLG
  GMARDPQGELLRAEALQSTFLLMSPRQLYEHFRGDYQTHDIGWSEEQASTVLQAWQRRFV
  QLAQEALPENASQQIHAFSSTTLDDILHAFSEVSAARVVGGYLLMLAYACVTMLRWDCAQ
  SQGSVGLAGVLLVALAVASGLGLCALLGITFNAATTQVLPFLALGIGVDDVFLLAHAFTE
  ALPGTPLQERMGECLQRTGTSVVLTSINNMAAFLMAALVPIPALRAFSLQAAIVVGCTFV
  AVMLVFPAILSLDLRRRHCQRLDVLCCFSSPCSAQVIQILPQELGDGTVPVGIAHLTATV
  QAFTHCEASSQHVVTILPPQAHLVPPPSDPLGSELFSPGGSTRDLLGQEEETRQKAACKS
  LPCARWNLAHFARYQFAPLLLQSHAKAIVLVLFGALLGLSLYGATLVQDGLALTDVVPRG
  TKEHAFLSAQLRYFSLYEVALVTQGGFDYAHSQRALFDLHQRFSSLKAVLPPPATQAPRT
  WLHYYRNWLQGIQAAFDQDWASGRITRHSYRNGSEDGALAYKLLIQTGDAQEPLDFSQLT
  TRKLVDREGLIPPELFYMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIP
  PAQPLEFAQFPFLLRGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGL
  RRCFLLAVCILLVCTFLVCALLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVV
  ILVASVGIGVEFTVHVALGFLTTQGSRNLRAAHALEHTFAPVTDGAISTLLGLLMLAGSH
  FDFIVRYFFAALTVLTLLGLLHGLVLLPVLLSILGPPPEVIQMYKESPEILSPPAPQGGG
  LRWGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSSGNLSSRGPGP
  ATG

• Sequence length: 1203

Pathways

KEGG:

Hedgehog signaling pathway
Pathways in cancer
Basal cell carcinoma

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Basal cell carcinoma, somatic	Pathogenic	rs587776628	RCV000006521	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basal cell carcinoma, susceptibility to, 1	Pathogenic	rs2521979430	RCV003992761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic	rs771498368	RCV003315494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gorlin syndrome	Pathogenic	rs2521979430	RCV003322681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal cell nevus syndrome 1	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMISSURAL FACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPLICATION OF PITUITARY GLAND	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar CTD, ClinVar, HPO CTD, ClinVar, HPO CTD, ClinVar, HPO CTD, ClinVar, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oromandibular-limb hypogenesis spectrum	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTCH2-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESSIER NUMBER 7 FACIAL CLEFT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory rib	Accessory Rib	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	9931336		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	12457448		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37019382	Associate	★☆☆☆☆ Found in Text Mining only
BASAL CELL CARCINOMA, SOMATIC	Carcinoma, Somatic	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BASAL CELL CARCINOMA, SOMATIC	Carcinoma, Somatic	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	CLINGEN_DG	16914743, 18285427, 19533801, 23479190, 8681379		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	18285427, 23479190, 23951062, 28525403, 28915250, 29081410, 9931336		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	UNIPROT_DG	18285427, 23479190		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	ORPHANET_DG	18285427, 23479190		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	CLINVAR_DG	23479190		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	23951062, 28915250, 33441926, 34170463	Associate	★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	GENOMICS_ENGLAND_DG	3986729		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcification of falx cerebri	Calcification of falx cerebri	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	11982765, 32319607, 33441926	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	10029063, 11966727, 11982765, 21699520, 28010757, 29869097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiac fibroma	Cardiac fibroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiac rhabdomyoma	Cardiac rhabdomyoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	9931336		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	26834157		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34573430	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	26059197	Stimulate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gorlin syndrome	Gorlin Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	29703892		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	16610948		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	ORPHANET_DG	19208383		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31233836		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	29869097		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	16843637		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26059197		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	9931336		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Medulloblastoma	Medulloblastoma	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Medulloblastoma	Medulloblastoma	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Medulloblastoma	Medulloblastoma	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Medulloblastoma	Medulloblastoma	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	26834157		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10029063, 10762630, 15711769, 21666490, 22457234, 29869097, 9931336		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10762630, 1437145		★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	ORPHANET_DG	18285427, 23479190		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	15711769		★☆☆☆☆ Found in Text Mining only
Orbital cyst	Orbital cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Fibromata	Ovarian fibromata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26059197	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31233836		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	10720057, 15785245, 22105775, 22457234, 7519046		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34873972	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
PULMONARY HYPERTENSION, PRIMARY, 3	Pulmonary Hypertension	BEFREE	31644792		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	29230040		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	29230040	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	29230040	Associate	★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	Pubtator	32281771	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	9528832	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	16843637, 8290261		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	9916927		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22028038	Associate	★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	15711769		★☆☆☆☆ Found in Text Mining only