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:0001746 | HP:0001746 | Asplenia | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 247 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 36 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 126 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 182 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 23 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CFC1 CL E G H | 55997 | 18292 | OMIM:605376 | Heterotaxy, visceral, 2, autosomal | | | | 13 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 116 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 78 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 63 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 27 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 62 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 542 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 527 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 18 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | . | | | 73 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 73 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 104 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 2 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 167 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 44 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | HP:0040283 - Occasional | | | 8 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | FOXF1 CL E G H | 2294 | 3809 | ORPHA:210122 | Congenital alveolar capillary dysplasia | HP:0040283 - Occasional | | | 61 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 1 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 9 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | GDF1 CL E G H | 2657 | 4214 | OMIM:208530 | Right atrial isomerism (Ivemark) | | | | 28 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 21 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 13 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | MNS1 CL E G H | 55329 | 29636 | OMIM:618948 | HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9 | | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | . | HP:0003577 - Congenital onset | | 35 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 50 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | . | | | 157 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 201 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 200 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 109 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 167 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | RPSA CL E G H | 3921 | 6502 | OMIM:271400 | Asplenia, isolated congenital | . | | | 9 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 31 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 5 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 58 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 45 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 15 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 3 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | . | | | 18 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | WNT3 CL E G H | 7473 | 12782 | OMIM:273395 | Tetraamelia, autosomal recessive | . | | | 12 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | | | | 39 | | |
HP:0001746 | HP:0001746 | Asplenia | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040284 - Very rare | | | 20 | | |