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:0000151 | HP:0000151 | Aplasia of the uterus | 0 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040283 - Occasional | | | 53 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:273250 | 46, XY sex reversal 11 | | | | 2 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | GATA3 CL E G H | 2625 | 4172 | OMIM:146255 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | | | | 83 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | HP:0040284 - Very rare | | | 83 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 3 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | . | | | 2 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040283 - Occasional | | | 6 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040284 - Very rare | | | 140 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:3109 | Mayer-Rokitansky-Küster-Hauser syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | WNT4 CL E G H | 54361 | 12783 | OMIM:158330 | Mullerian aplasia and hyperandrogenism | HP:0040281 - Very frequent | | | 4 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | HP:0040282 - Frequent | | | 13 | | |
HP:0000151 | HP:0000151 | Aplasia of the uterus | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | HP:0040283 - Occasional | | | 13 | | |