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 AMOTL1 gene AMOTL1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000166025 ENSG00000166025 HGNC:17811 CDH18 gene CDH18 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000145526 ENSG00000145526 HGNC:1757 CTNND2 gene CTNND2 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000169862 ENSG00000169862 HGNC:2516 DESI2 gene DESI2 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000121644 ENSG00000121644 HGNC:24264 DKK1 gene DKK1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation and hypospadias 25319845 False 1 0;0;0 1.14 False ENSG00000107984 ENSG00000107984 HGNC:2891 DKK4 gene DKK4 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318;23108157 False 1 0;0;0 1.14 False ENSG00000104371 ENSG00000104371 HGNC:2894 EAF1 gene EAF1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000144597 ENSG00000144597 HGNC:20907 EBF2 gene EBF2 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown imperforate anus 29704291 False 1 0;0;100 1.14 False ENSG00000221818 ENSG00000221818 HGNC:19090 ECSIT gene ECSIT Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000130159 ENSG00000130159 HGNC:29548 EDNRB gene EDNRB Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 17618893 False 1 0;0;0 1.14 False ENSG00000136160 ENSG00000136160 HGNC:3180 FAM110B gene FAM110B Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000169122 ENSG00000169122 HGNC:28587 FNBP1 gene FNBP1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000187239 ENSG00000187239 HGNC:17069 HHIP gene HHIP Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 27082974 False 1 0;0;0 1.14 False ENSG00000164161 ENSG00000164161 HGNC:14866 HOXD13 gene HOXD13 Other Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VACTERL ASSOCIATION 19006232 False 1 0;0;0 1.14 False ENSG00000128714 ENSG00000128714 HGNC:5136 INTU gene INTU Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318;23108157 False 1 0;0;0 1.14 False ENSG00000164066 ENSG00000164066 HGNC:29239 JAK2 gene JAK2 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000096968 ENSG00000096968 HGNC:6192 LCA5 gene LCA5 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000135338 ENSG00000135338 HGNC:31923 LINC01081 gene LINC01081 Expert Review Red;NHS GMS Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alveolar capillary dysplasia with misalignment of pulmonary veins 27071622 False 1 50;0;50 1.14 False ENSG00000268754 ENSG00000268754 HGNC:49124 LINC01082 gene LINC01082 Expert Review Red;NHS GMS Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alveolar capillary dysplasia with misalignment of pulmonary veins 27071622 False 1 50;0;50 1.14 False ENSG00000269186 ENSG00000269186 HGNC:49125 MPRIP gene MPRIP Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000133030 ENSG00000133030 HGNC:30321 NLGN1 gene NLGN1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000169760 ENSG00000169760 HGNC:14291 PROK1 gene PROK1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000143125 ENSG00000143125 HGNC:18454 PTEN gene PTEN Other Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950 False 1 0;0;0 1.14 False ENSG00000171862 ENSG00000171862 HGNC:9588 RCSD1 gene RCSD1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000198771 ENSG00000198771 HGNC:28310 RFX6 gene RFX6 Expert list;Expert Review Red Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal anorectal malformation;Mitchell-Riley syndrome 615710;MARTINEZ-FRIAS SYNDROME 20148032;26264437 False 1 0;0;0 1.14 False ENSG00000185002 ENSG00000185002 HGNC:21478 SGCD gene SGCD Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000170624 ENSG00000170624 HGNC:10807 SIL1 gene SIL1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000120725 ENSG00000120725 HGNC:24624 SOX4 gene SOX4 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000124766 ENSG00000124766 HGNC:11200 SOX6 gene SOX6 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000110693 ENSG00000110693 HGNC:16421 STIM1 gene STIM1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000167323 ENSG00000167323 HGNC:11386 T gene T Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders sacral agenesis;anorectal atresia 10204846 False 1 0;0;0 1.14 False ENSG00000164458 ENSG00000164458 HGNC:11515 TBC1D4 gene TBC1D4 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000136111 ENSG00000136111 HGNC:19165 TLR1 gene TLR1 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000174125 ENSG00000174125 HGNC:11847 TNNI3K gene TNNI3K Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000116783 ENSG00000116783 HGNC:19661 TP63 gene TP63 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders 23736768 False 1 0;0;0 1.14 False ENSG00000073282 ENSG00000073282 HGNC:15979 TTC7A gene TTC7A Expert list;Expert Review Red Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal anorectal malformation;Gastrointestinal defects and immunodeficiency syndrome 243150;INTESTINAL ATRESIA, MULTIPLE 23423984;24292712;23830146;25174867;25174867 False 1 100;0;0 1.14 False ENSG00000068724 ENSG00000068724 HGNC:19750 TTLL9 gene TTLL9 Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000131044 ENSG00000131044 HGNC:16118 WDPCP gene WDPCP Literature Non-syndromic familial congenital anorectal malformations Gastrointestinal disorders Gastroenterological disorders anorectal malformation 23936318 False 1 0;0;0 1.14 False ENSG00000143951 ENSG00000143951 HGNC:28027