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:0025116 | HP:0025116 | Fetal distress | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | . | | | 111 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040282 - Frequent | | | 415 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | AFF2 CL E G H | 2334 | 3776 | OMIM:309548 | Mental retardation, X-linked, associated with fragile site fraxe | | | | 59 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | ALDH7A1 CL E G H | 501 | 877 | OMIM:266100 | Epilepsy, pyridoxine-dependent | . | | | 227 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | ALDH7A1 CL E G H | 501 | 877 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040282 - Frequent | | | 227 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:147480 | Cholestasis, intrahepatic, of pregnancy, 1 | . | | | 144 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | EMC10 CL E G H | 284361 | 27609 | OMIM:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS | | | | | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:208000 | Arterial calcification, generalized, of infancy, 1 | | | | 151 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040282 - Frequent | | | 151 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | KCNQ5 CL E G H | 56479 | 6299 | OMIM:617601 | Mental retardation, autosomal dominant 46 | | | | 5 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:619793 | RESTRICTIVE DERMOPATHY 2; RSDM2 | | | | 645 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 40 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 26 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 31 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 34 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 3 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 9 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 81 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 65 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 22 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 21 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 38 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 42 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | OSTM1 CL E G H | 28962 | 21652 | ORPHA:85179 | Infantile osteopetrosis with neuroaxonal dysplasia | HP:0040283 - Occasional | | | 73 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | PLPBP CL E G H | 11212 | 9457 | OMIM:617290 | Epilepsy, early-onset, vitamin b6-dependent | | | | 6 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | PLPBP CL E G H | 11212 | 9457 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040282 - Frequent | | | 6 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | . | | | 22 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0025116 | HP:0025116 | Fetal distress | 0 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | | | | 2 | | |