Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name NTRK1 gene NTRK1 Expert Review Red;Radboud University Medical Center, Nijmegen Multiple endocrine tumours Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Insensitivity to pain, congenital, with anhidrosis, 256800; Medullary thyroid carcinoma, familial, 155240 PMID: 10443680 False 1 0;0;100 1.14 True ENSG00000198400 ENSG00000198400 HGNC:8031 PTEN gene PTEN Emory Genetics Laboratory;Expert Review Red Multiple endocrine tumours Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Endocrine Cancer False 1 0;0;100 1.14 True ENSG00000171862 ENSG00000171862 HGNC:9588