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 ABCC6 gene ABCC6 Expert list;Expert Review Green Facial papules Dermatological disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925 Papule HP:0200034 20301292 False 3 100;0;0 1.0 True ENSG00000091262 ENSG00000091262 HGNC:57 ANTXR2 gene ANTXR2 Expert Review Green;Literature Facial papules Dermatological disorders BIALLELIC, autosomal or pseudoautosomal hyaline fibromatosis syndrome MONDO:0009229 Papule HP:0200034 20301698 False 3 100;0;0 1.0 True ENSG00000163297 ENSG00000163297 HGNC:21732 APC gene APC Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Classic or attenuated familial adenomatous polyposis MONDO:0021057" Papule HP:0200034 20301519 False 3 100;0;0 1.0 True ENSG00000134982 ENSG00000134982 HGNC:583 ATP2A2 gene ATP2A2 Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Darier disease MONDO:0007417 Papule HP:0200034 10080178;31911771 False 3 100;0;0 1.0 True ENSG00000174437 ENSG00000174437 HGNC:812 CYLD gene CYLD Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial cylindromatosis MONDO:0007565 Papule HP:0200034 32298062 False 3 100;0;0 1.0 True ENSG00000083799 ENSG00000083799 HGNC:2584 ECM1 gene ECM1 Expert list;Expert Review Green Facial papules Dermatological disorders BIALLELIC, autosomal or pseudoautosomal lipoid proteinosis MONDO:0009530 Papule HP:0200034 26803878 False 3 100;0;0 1.0 True ENSG00000143369 ENSG00000143369 HGNC:3153 FH gene FH Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary leiomyomatosis and renal cell cancer MONDO:0007888 Papule HP:0200034 20301430 False 3 100;0;0 1.0 True ENSG00000091483 ENSG00000091483 HGNC:3700 FLCN gene FLCN Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Birt-Hogg-Dube syndrome MONDO:0007607 Papule HP:0200034 20301695 False 3 100;0;0 1.0 True ENSG00000154803 ENSG00000154803 HGNC:27310 HR gene HR Expert Review Green;Literature Facial papules Dermatological disorders BIALLELIC, autosomal or pseudoautosomal atrichia with papular lesions MONDO:0008847 Papule HP:0200034 12271294;9856480;10205263;17869066 False 3 100;0;0 1.0 True ENSG00000168453 ENSG00000168453 HGNC:5172 IDS gene IDS Expert list;Expert Review Green Facial papules Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis type 2 MONDO:0010674 Papule HP:0200034 20301451 False 3 100;0;0 1.0 True ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert list;Expert Review Green Facial papules Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type 1 MONDO:0001586 Papule HP:0200034 20301341 False 3 100;0;0 1.0 True ENSG00000127415 ENSG00000127415 HGNC:5391 MEN1 gene MEN1 Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted multiple endocrine neoplasia type 1 MONDO:0007540 Papule HP:0200034 20301710 False 3 100;0;0 1.0 True ENSG00000133895 ENSG00000133895 HGNC:7010 MLH1 gene MLH1 Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lynch syndrome MONDO:0005835;Muir-Torre syndrome MONDO:0008018 Papule HP:0200034 20301390;11231323;14994245;15235030;8931714;8751876;9634524 False 3 100;0;0 1.0 True ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lynch syndrome MONDO:0005835;Muir-Torre syndrome MONDO:0008018 Papule HP:0200034 20301390;11231323;14994245;15235030;8931714;8751876;9634524 False 3 100;0;0 1.0 True ENSG00000095002 ENSG00000095002 HGNC:7325 NF1 gene NF1 Expert Review Green;Literature Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurofibromatosis type 1 MONDO:0018975 Papule HP:0200034 23984232;32298062;34164111 False 3 100;0;0 1.0 True ENSG00000196712 ENSG00000196712 HGNC:7765 PTCH1 gene PTCH1 Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted nevoid basal cell carcinoma syndrome MONDO:0007187 Papule HP:0200034 20301330 False 3 100;0;0 1.0 True ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PTEN hamartoma tumor syndrome MONDO:0017623 Papule HP:0200034 20301661 False 3 100;0;0 1.0 True ENSG00000171862 ENSG00000171862 HGNC:9588 RET gene RET Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted multiple endocrine neoplasia type 2B MONDO:0008082 Papule HP:0200034 20301434 False 3 100;0;0 1.0 True Other ENSG00000165731 ENSG00000165731 HGNC:9967 SUFU gene SUFU Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted nevoid basal cell carcinoma syndrome MONDO:0007187 Papule HP:0200034 20301330 False 3 100;0;0 1.0 True ENSG00000107882 ENSG00000107882 HGNC:16466 TSC1 gene TSC1 Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tuberous sclerosis MONDO:0001734 Papule HP:0200034 20301399 False 3 100;0;0 1.0 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert list;Expert Review Green Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tuberous sclerosis MONDO:0001734 Papule HP:0200034 20301399 False 3 100;0;0 1.0 True ENSG00000103197 ENSG00000103197 HGNC:12363 CDKN1B gene CDKN1B Expert list;Expert Review Amber Facial papules Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted multiple endocrine neoplasia type 4 MONDO:0012552 Papule HP:0200034 20301710 False 2 0;100;0 1.0 True ENSG00000111276 ENSG00000111276 HGNC:1785