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:0002871 | HP:0002871 | Central apnea | 0 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | . | | | 175 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | . | | | 145 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 63 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 121 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611722 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | | | | 81 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | . | | | 167 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | HP:0040283 - Occasional | | | 255 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 135 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 37 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TECPR2 CL E G H | 9895 | 19957 | ORPHA:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | HP:0040283 - Occasional | | | 39 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | . | | | 39 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:166063 | Pontocerebellar hypoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0002871 | HP:0002871 | Central apnea | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |