Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | 245 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | HP:0040283 - Occasional | | | 284 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | CTRC CL E G H | 11330 | 2523 | ORPHA:103918 | Tropical pancreatitis | | | | 39 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | HP:0040283 - Occasional | | | 5 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 172 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040281 - Very frequent | | | 3 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2248 | Hypoplastic left heart syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 21 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040283 - Occasional | | | 161 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:610582 | Diabetes mellitus, transient neonatal, 3 | . | | | 127 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:616329 | Maturity-onset diabetes of the young, type 13 | . | | | 127 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | 127 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:2248 | Hypoplastic left heart syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 41 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | PPARG CL E G H | 5468 | 9236 | OMIM:604367 | Lipodystrophy, familial partial, type 3 | . | | | 42 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 34 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 33 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 24 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | SPINK1 CL E G H | 6690 | 11244 | ORPHA:103918 | Tropical pancreatitis | | | | 34 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040281 - Very frequent | | | 111 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | 30 | | |
HP:0009800 | HP:0009800 | Maternal diabetes | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |