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:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040281 - Very frequent | | | 415 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 56 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | CBL CL E G H | 867 | 1541 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 317 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 42 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 42 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040282 - Frequent | | | 27 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040281 - Very frequent | | | 151 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | . | | | 29 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 126 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 126 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | . | | | 8 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | LZTR1 CL E G H | 8216 | 6742 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 140 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 140 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | MRAS CL E G H | 22808 | 7227 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 102 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 75 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 66 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 106 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 99 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 27 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 241 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 241 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 291 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 212 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | RASA2 CL E G H | 5922 | 9872 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | RIT1 CL E G H | 6016 | 10023 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040282 - Frequent | | | 15 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | RRAS CL E G H | 6237 | 10447 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | RRAS2 CL E G H | 22800 | 17271 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | HP:0040281 - Very frequent | | | 166 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 315 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | SOS2 CL E G H | 6655 | 11188 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | SPRED2 CL E G H | 200734 | 17722 | ORPHA:648 | Noonan syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 62 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 31 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 31 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | HP:0040281 - Very frequent | | | 133 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 63 | | |
HP:0000474 | HP:0000474 | Thickened nuchal skin fold | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 63 | | |