Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | AP1S1 CL E G H | 1174 | 559 | OMIM:609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | | | | 1 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | AR CL E G H | 367 | 644 | ORPHA:95706 | Non-syndromic posterior hypospadias | | | | 125 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 5 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 76 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 17 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | CFAP45 CL E G H | 25790 | 17229 | OMIM:619608 | HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11 | | | | | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | | | | 4 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | CLMP CL E G H | 79827 | 24039 | OMIM:615237 | Congenital short bowel syndrome | | | | 7 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | | | | 164 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | | | | 48 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:615272 | Fanconi anemia, complementation group Q | | | | 158 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | | | | 58 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | | | | 58 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FBN2 CL E G H | 2201 | 3604 | ORPHA:115 | Congenital contractural arachnodactyly | | | | 655 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 172 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | | | | 175 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | | | | 34 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 21 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | ITGA6 CL E G H | 3655 | 6142 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | | | | 79 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 124 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | | | | 124 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:95706 | Non-syndromic posterior hypospadias | | | | 5 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | MIR17HG CL E G H | 407975 | 23564 | ORPHA:391646 | Feingold syndrome type 2 | | | | 1 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040281 - Very frequent | | | 35 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 41 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | | | | 641 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040281 - Very frequent | | | 11 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 759 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 34 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | | | | 391 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | | | | 28 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | | | | 9 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 20 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | | | | 33 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 33 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 33 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 24 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 2 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040281 - Very frequent | | | 26 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:2300 | Multiple intestinal atresia | HP:0040281 - Very frequent | | | 26 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | | | | 39 | | |
HP:0002589 | HP:0002589 | Gastrointestinal atresia | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | AP1S1 CL E G H | 1174 | 559 | OMIM:609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | | | | 1 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | AR CL E G H | 367 | 644 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 125 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 5 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 76 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 17 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | CFAP45 CL E G H | 25790 | 17229 | OMIM:619608 | HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11 | | | | | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | CLMP CL E G H | 79827 | 24039 | OMIM:615237 | Congenital short bowel syndrome | | | | 7 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | | | | 164 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 304 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | EFTUD2 CL E G H | 9343 | 30858 | OMIM:610536 | Mandibulofacial dysostosis, Guion-Almeida type | HP:0040283 - Occasional | | | 48 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | ERCC4 CL E G H | 2072 | 3436 | OMIM:615272 | Fanconi anemia, complementation group Q | . | | | 158 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | | | | 58 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040281 - Very frequent | | | 58 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | FANCD2 CL E G H | 2177 | 3585 | OMIM:227646 | Fanconi anemia, complementation group D2 | | | | 147 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | HP:0040283 - Occasional | | | 53 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | FBN2 CL E G H | 2201 | 3604 | ORPHA:115 | Congenital contractural arachnodactyly | | | | 655 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 172 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | | | | 34 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 21 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 65 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | ITGA6 CL E G H | 3655 | 6142 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040281 - Very frequent | | | 79 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 124 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79403 | Junctional epidermolysis bullosa with pyloric atresia | HP:0040281 - Very frequent | | | 124 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 5 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | MIR17HG CL E G H | 407975 | 23564 | ORPHA:391646 | Feingold syndrome type 2 | | | | 1 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | . | | | 35 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040282 - Frequent | | | 35 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | | | | 35 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 41 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040284 - Very rare | | | 641 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040281 - Very frequent | | | 11 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 759 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 34 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | | | | 391 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | | | | 28 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 33 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 24 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | HP:0040284 - Very rare | | | 100 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 2 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040281 - Very frequent | | | 26 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | . | | | 26 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 136 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0002589 | HP:0002032 | Esophageal atresia | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | | | | 39 | | |
HP:0002589 | HP:0011100 | Intestinal atresia | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0002589 | HP:0004403 | Proximal esophageal atresia | 2 | CL E G H | | | | | | | | | | |
HP:0002589 | HP:0004797 | Multiple small bowel atresias | 2 | CL E G H | | | | | | | | | | |
HP:0002589 | HP:0005235 | Jejunal atresia | 2 | AP1S1 CL E G H | 1174 | 559 | OMIM:609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | | | | 1 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0002589 | HP:0005235 | Jejunal atresia | 2 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | CFAP45 CL E G H | 25790 | 17229 | OMIM:619608 | HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11 | | | | | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0002589 | HP:0010448 | Colonic atresia | 2 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0002589 | HP:0011102 | Ileal atresia | 2 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | | | | 164 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040284 - Very rare | | | 134 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | FBN2 CL E G H | 2201 | 3604 | ORPHA:115 | Congenital contractural arachnodactyly | HP:0040283 - Occasional | | | 655 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0002589 | HP:0011102 | Ileal atresia | 2 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | | | | 34 | | |
HP:0002589 | HP:0010448 | Colonic atresia | 2 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0002589 | HP:0005235 | Jejunal atresia | 2 | MIR17HG CL E G H | 407975 | 23564 | ORPHA:391646 | Feingold syndrome type 2 | HP:0040282 - Frequent | | | 1 | | |
HP:0002589 | HP:0005235 | Jejunal atresia | 2 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | . | | | 35 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040283 - Occasional | | | 35 | | |
HP:0002589 | HP:0005235 | Jejunal atresia | 2 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040284 - Very rare | | | 35 | | |
HP:0002589 | HP:0011102 | Ileal atresia | 2 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0002589 | HP:0010448 | Colonic atresia | 2 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0002589 | HP:0011102 | Ileal atresia | 2 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0002589 | HP:0005235 | Jejunal atresia | 2 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0002589 | HP:0025023 | Rectal atresia | 2 | RAD51C CL E G H | 5889 | 9820 | OMIM:613390 | Fanconi anemia, complementation group O | . | | | 391 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0002589 | HP:0005235 | Jejunal atresia | 2 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | . | | | 28 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | RFX6 CL E G H | 222546 | 21478 | OMIM:615710 | Mitchell-Riley syndrome | . | | | 28 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0002589 | HP:0005235 | Jejunal atresia | 2 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0002589 | HP:0025023 | Rectal atresia | 2 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040283 - Occasional | | | 31 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002589 | HP:0011102 | Ileal atresia | 2 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0002589 | HP:0010448 | Colonic atresia | 2 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0002589 | HP:0005235 | Jejunal atresia | 2 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0002589 | HP:0025023 | Rectal atresia | 2 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0002589 | HP:0002247 | Duodenal atresia | 2 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0002589 | HP:0005235 | Jejunal atresia | 2 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0002589 | HP:0200116 | Distal ileal atresia | 3 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |