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:0001520 | HP:0001520 | Large for gestational age | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency | HP:0040282 - Frequent | | | 245 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:256450 | Hyperinsulinemic hypoglycemia, familial, 1 | . | | | 245 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 245 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | AKT2 CL E G H | 208 | 392 | ORPHA:293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy | HP:0040281 - Very frequent | | | 12 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | AKT2 CL E G H | 208 | 392 | OMIM:240900 | Hypoinsulinemic hypoglycemia with hemihypertrophy | . | | | 12 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | ANK3 CL E G H | 288 | 494 | ORPHA:356996 | ANK3-related intellectual disability-sleep disturbance syndrome | HP:0040283 - Occasional | | | 176 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 2 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 75 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 25 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040282 - Frequent | | | 1 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:600501 | Abcd syndrome | . | | | 55 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 223 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 237 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | | | | 16 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:324575 | Hyperinsulinism due to HNF1A deficiency | HP:0040282 - Frequent | | | 161 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 161 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | . | HP:0003623 - Neonatal onset | | 138 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040281 - Very frequent | | | 138 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 138 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 62 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:601820 | Hyperinsulinemic hypoglycemia, familial, 2 | . | | | 127 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 127 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 78 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 99 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040282 - Frequent | | | 1 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | | | | 27 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 32 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 55 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 30 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | | | | 37 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040282 - Frequent | | | | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:617757 | Joubert syndrome 32 | . | | | 124 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0001520 | HP:0001520 | Large for gestational age | 0 | UCP2 CL E G H | 7351 | 12518 | ORPHA:276556 | Hyperinsulinism due to UCP2 deficiency | HP:0040282 - Frequent | | | 15 | | |