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Disorder Names

  • Pachyonychia congenita (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • Pallister-Hall syndrome (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • Palmoplantar hyperkeratosis and true hermaphroditism (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Palmoplantar keratoderma (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Papillon-Lefevre syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Papillon-Lefevre syndrome (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Paramyotonia congenital (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Parkes Weber syndrome (ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTP....)
  • Parkinsonism associated dystonia (ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BC....)
  • Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity (ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BC....)
  • Paroxysmal kinesigenic dyskinesia (ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BC....)
  • Paroxysmal nonkinesigenic dyskinesia (ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BC....)
  • PCWH syndrome (AARS2, ABCD1, ACOX1, ADAR, AIMP1, APP, ARSA, ASPA, CLCN2, COX10, COX15, CSF1R, C....)
  • Peeling skin syndrome (AQP5, ATP2A2, ATP2C1, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSC3, DSG1, DSP, DST, ....)
  • Pelizaeus-Merzbacher disease (AARS2, ABCD1, ACOX1, ADAR, AIMP1, APP, ARSA, ASPA, CLCN2, COX10, COX15, CSF1R, C....)
  • Pentosuria (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • PEPCK deficiency, cytosolic and mitochondrial (ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ARSA, CLCN5, ETFA, ETFB, ETFDH, OCRL....)
  • PEPCK deficiency, cytosolic and mitochondrial (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • PEPCK deficiency, mitochondrial (AARS, ABCB6, ACO2, AFG3L2, AK2, BTD, C19orf12, CISD2, COX4I2, CPS1, CYCS, CYP11A....)
  • Periventricular heterotopia (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Peroxisomal acyl-CoA oxidase deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Perrault syndrome (AARS, ABCB6, ACO2, AFG3L2, AK2, BTD, C19orf12, CISD2, COX4I2, CPS1, CYCS, CYP11A....)
  • Peters-plus syndrome (ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B3GLCT, B3GNT....)
  • Pettigrew syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Peutz-Jeghers syndrome (ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143....)
  • Phenylketonuria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • Phosphoglycerate dehydrogenase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Phosphoribosylpyrophosphate synthetase superactivity (AGL, ALDOB, ATP7B, COX10, COX6B1, CTNS, EYA1, FAH, FASTKD2, G6PC, GALT, GLA, HPR....)
  • Phosphoribosylpyrophosphate synthetase superactivity (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Phosphoserine aminotransferase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Phosphoserine phosphatase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Piebaldism (ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143....)
  • Pierson syndrome (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • Pigmentation disorders (ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143....)
  • Pitt Hopkins syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Pitt Hopkins syndrome (AARS, ACTB, ACY1, ADGRV1, ADRA2B, ADSL, AFG3L2, AGTR2, AKT3, ALDH7A1, ALG13, AMT....)
  • Pityriasis rubra pilaris (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • PLACK (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Poikiloderma of Rothmund-Thomson (BLM, CTC1, DKC1, FERMT1, NHP2, NOP10, RECQL4, TERC, TERT, TINF2, USB1, WRAP53....)
  • Poikiloderma syndromes (BLM, CTC1, DKC1, FERMT1, NHP2, NOP10, RECQL4, TERC, TERT, TINF2, USB1, WRAP53....)
  • Poikiloderma with neutropenia (BLM, CTC1, DKC1, FERMT1, NHP2, NOP10, RECQL4, TERC, TERT, TINF2, USB1, WRAP53....)
  • Polycystic kidney disease (ALG9, HNF1B, OFD1, PKD1, PKD2, PKHD1, TSC2....)
  • Polymicrogyria (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Pontocerebellar hypoplasia (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Popliteal pterygium syndrome (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • Porencephaly (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Poretti-Boltshauser syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Porokeratosis (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Porphyria (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Premature ageing syndromes (ALDH18A1, ATP6V0A2, ATP7A, BLM, EFEMP2, ELN, FBLN5, GGCX, GORAB, GSN, HRAS, LMNA....)
  • Primary bile acid malabsorption (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Progressive familial intrahepatic cholestasis (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Prohormone convertase 1 deficiency (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Prolidase deficiency (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Prolidase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Pro-opiomelanocortin deficiency (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Propionic acidaemia (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Pseudohypoaldosteronism (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4....)
  • Pseudopseudohypoparathyroidism (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Pseudoxanthoma elasticum (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Pycnodysostosis (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Pycnodysostosis (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Pyridoxamine 5'-phosphate oxidase deficiency (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Pyridoxine-dependent epilepsy (ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, M....)
  • Pyruvate carboxylase deficiency (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • Pyruvate dehydrogenase E1-alpha deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Pyruvate dehydrogenase E1-beta deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Pyruvate dehydrogenase E2 deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Pyruvate dehydrogenase phosphatase deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Pyruvate kinase deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Pallister-Hall syndrome (CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, ....)
  • Pancreatic cancer (ATM, AIP, BRCA1, BRCA2, CDC73, CDKN2A, MEN1, PALB2, PTEN, RET, SDHAF2, SDHB, SDH....)
  • Parastremmatic dwarfism (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Parietal foramina (with cleidocranial dysplasia) (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Parkes Weber syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Peritoneal carcer (BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, STK11, TP53....)
  • Perlman syndrome (FH, FLCN, MET, TSC1, TSC2, VHL, WT1....)
  • Perlman syndrome (DIS3L2....)
  • Peutz-Jeghers syndrome (APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK....)
  • Pfeiffer syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Pheochromocytoma (ATM, AIP, BRCA1, BRCA2, CDC73, CDKN2A, MEN1, PALB2, PTEN, RET, SDHAF2, SDHB, SDH....)
  • Philadelphia type craniosynostosis (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Pierpont syndrome (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Platyspondylic skeletal dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Polydactyly-syndactyly-triphalangism (CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, ....)
  • Popliteal pterygium syndrome lethal type (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Progressive osseous heteroplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Proximal symphalangism (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Pseudoachondroplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • PTEN hamartoma tumor syndrome (PHTS) (APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK....)
  • Pycnodysostosis (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Patau's Syndrome (Trisomy 13) (NA....)
  • P2RX1 (P2RX1....)
  • P2RX4 (P2RX4....)
  • P2RX5 (P2RX5....)
  • P2RX7 (P2RX7....)
  • P2RY11 (P2RY11....)
  • P2RY12 (P2RY12....)
  • P2RY4 (P2RY4....)
  • PABPC4L (PABPC4L....)
  • PABPN1 (PABPN1....)
  • PACRG (PACRG....)
  • PAFAH1B1 (PAFAH1B1....)
  • PAFAH1B3 (PAFAH1B3....)
  • PAH (PAH....)
  • PAK3 (PAK3....)
  • PAK7 (PAK7....)
  • PALB2 (PALB2....)
  • PALLD (PALLD....)
  • PANK2 (PANK2....)
  • PAPD7 (PAPD7....)
  • PAPSS2 (PAPSS2....)
  • PARD3B (PARD3B....)
  • PARD6A (PARD6A....)
  • PARK2 (PARK2....)
  • PARK7 (PARK7....)
  • PARL (PARL....)
  • PARP1 (PARP1....)
  • PARP2 (PARP2....)
  • PASK (PASK....)
  • PAWR (PAWR....)
  • PAX1 (PAX1....)
  • PAX2 (PAX2....)
  • PAX3 (PAX3....)
  • PAX4 (PAX4....)
  • PAX5 (PAX5....)
  • PAX6 (PAX6....)
  • PAX7 (PAX7....)
  • PAX8 (PAX8....)
  • PAX9 (PAX9....)
  • PC (PC....)
  • PCBD1 (PCBD1....)
  • PCCA (PCCA....)
  • PCCB (PCCB....)
  • PCDH11X (PCDH11X....)
  • PCDH15 (PCDH15....)
  • PCDH18 (PCDH18....)
  • PCDH19 (PCDH19....)
  • PCDH9 (PCDH9....)
  • PCDHA10 (PCDHA10....)
  • PCDHA13 (PCDHA13....)
  • PCDHB4 (PCDHB4....)
  • PCK1 (PCK1....)
  • PCK2 (PCK2....)
  • PCM1 (PCM1....)
  • PCMT1 (PCMT1....)
  • PCNT (PCNT....)
  • PCOLCE (PCOLCE....)
  • PCSK1 (PCSK1....)
  • PCSK2 (PCSK2....)
  • PCSK9 (PCSK9....)
  • PDCD1 (PDCD1....)
  • PDCD10 (PDCD10....)
  • PDCD5 (PDCD5....)
  • PDE10A (PDE10A....)
  • PDE11A (PDE11A....)
  • PDE4B (PDE4B....)
  • PDE4D (PDE4D....)
  • PDE6A (PDE6A....)
  • PDE6B (PDE6B....)
  • PDE6C (PDE6C....)
  • PDE6G (PDE6G....)
  • PDE6H (PDE6H....)
  • PDE7B (PDE7B....)
  • PDE8B (PDE8B....)
  • PDGFB (PDGFB....)
  • PDGFC (PDGFC....)
  • PDGFRA (PDGFRA....)
  • PDHA1 (PDHA1....)
  • PDHB (PDHB....)
  • PDHX (PDHX....)
  • PDLIM3 (PDLIM3....)
  • PDLIM5 (PDLIM5....)
  • PDP1 (PDP1....)
  • PDPK1 (PDPK1....)
  • PDSS1 (PDSS1....)
  • PDSS2 (PDSS2....)
  • PDX1 (PDX1....)
  • PDXK (PDXK....)
  • PDYN (PDYN....)
  • PDZD7 (PDZD7....)
  • PEAR1 (PEAR1....)
  • PECAM1 (PECAM1....)
  • PECR (PECR....)
  • PEMT (PEMT....)
  • PENK (PENK....)
  • PEPD (PEPD....)
  • PER1 (PER1....)
  • PER2 (PER2....)
  • PER3 (PER3....)
  • PEX1 (PEX1....)
  • PEX10 (PEX10....)
  • PEX11B (PEX11B....)
  • PEX12 (PEX12....)
  • PEX13 (PEX13....)
  • PEX14 (PEX14....)
  • PEX16 (PEX16....)
  • PEX19 (PEX19....)
  • PEX2 (PEX2....)
  • PEX26 (PEX26....)
  • PEX3 (PEX3....)
  • PEX5 (PEX5....)
  • PEX6 (PEX6....)
  • PEX7 (PEX7....)
  • PFAS (PFAS....)
  • PFKM (PFKM....)
  • PFN1 (PFN1....)
  • PGAM1 (PGAM1....)
  • PGAM2 (PGAM2....)
  • PGAM5 (PGAM5....)
  • PGBD1 (PGBD1....)
  • PGC (PGC....)
  • PGD (PGD....)
  • PGK1 (PGK1....)
  • PGM1 (PGM1....)
  • PGR (PGR....)
  • PGRMC1 (PGRMC1....)
  • PHB (PHB....)
  • PHEX (PHEX....)
  • PHF11 (PHF11....)
  • PHF2 (PHF2....)
  • PHF3 (PHF3....)
  • PHF6 (PHF6....)
  • PHF8 (PHF8....)
  • PHGDH (PHGDH....)
  • PHIP (PHIP....)
  • PHKA1 (PHKA1....)
  • PHKA2 (PHKA2....)
  • PHKB (PHKB....)
  • PHKG2 (PHKG2....)
  • PHLDA2 (PHLDA2....)
  • PHLPP2 (PHLPP2....)
  • PHOX2A (PHOX2A....)
  • PHOX2B (PHOX2B....)
  • PHYH (PHYH....)
  • PI3 (PI3....)
  • PICALM (PICALM....)
  • PICK1 (PICK1....)
  • PIEZO2 (PIEZO2....)
  • PIF1 (PIF1....)
  • PIGA (PIGA....)
  • PIGL (PIGL....)
  • PIGM (PIGM....)
  • PIGN (PIGN....)
  • PIGO (PIGO....)
  • PIGR (PIGR....)
  • PIGV (PIGV....)
  • PIK3C2G (PIK3C2G....)
  • PIK3C3 (PIK3C3....)
  • PIK3CA (PIK3CA....)
  • PIK3CB (PIK3CB....)
  • PIK3CD (PIK3CD....)
  • PIK3CG (PIK3CG....)
  • PIK3R1 (PIK3R1....)
  • PIK3R2 (PIK3R2....)
  • PIK3R4 (PIK3R4....)
  • PIK3R5 (PIK3R5....)
  • PIKFYVE (PIKFYVE....)
  • PIN1 (PIN1....)
  • PINK1 (PINK1....)
  • PIP4K2A (PIP4K2A....)
  • PIP5K1B (PIP5K1B....)
  • PIP5K1C (PIP5K1C....)
  • PITPNM3 (PITPNM3....)
  • PITX1 (PITX1....)
  • PITX2 (PITX2....)
  • PITX3 (PITX3....)
  • PIWIL3 (PIWIL3....)
  • PKD1 (PKD1....)
  • PKD1L1 (PKD1L1....)
  • PKD2 (PKD2....)
  • PKHD1 (PKHD1....)
  • PKLR (PKLR....)
  • PKM (PKM....)
  • PKN3 (PKN3....)
  • PKP1 (PKP1....)
  • PKP2 (PKP2....)
  • PLA2G10 (PLA2G10....)
  • PLA2G2A (PLA2G2A....)
  • PLA2G2D (PLA2G2D....)
  • PLA2G4A (PLA2G4A....)
  • PLA2G4C (PLA2G4C....)
  • PLA2G5 (PLA2G5....)
  • PLA2G6 (PLA2G6....)
  • PLA2G7 (PLA2G7....)
  • PLAGL1 (PLAGL1....)
  • PLAT (PLAT....)
  • PLAU (PLAU....)
  • PLAUR (PLAUR....)
  • PLCB1 (PLCB1....)
  • PLCB4 (PLCB4....)
  • PLCD1 (PLCD1....)
  • PLCE1 (PLCE1....)
  • PLCG2 (PLCG2....)
  • PLCZ1 (PLCZ1....)
  • PLD2 (PLD2....)
  • PLEC (PLEC....)
  • PLEKHG4 (PLEKHG4....)
  • PLEKHG5 (PLEKHG5....)
  • PLEKHM1 (PLEKHM1....)
  • PLG (PLG....)
  • PLIN1 (PLIN1....)
  • PLIN4 (PLIN4....)
  • PLN (PLN....)
  • PLOD1 (PLOD1....)
  • PLOD2 (PLOD2....)
  • PLOD3 (PLOD3....)
  • PLP1 (PLP1....)
  • PLP2 (PLP2....)
  • PLTP (PLTP....)
  • PLXND1 (PLXND1....)
  • PMAIP1 (PMAIP1....)
  • PML (PML....)
  • PMM2 (PMM2....)
  • PMP22 (PMP22....)
  • PMS1 (PMS1....)
  • PMS2 (PMS2....)
  • PNKD (PNKD....)
  • PNKP (PNKP....)
  • PNMT (PNMT....)
  • PNP (PNP....)
  • PNPLA1 (PNPLA1....)
  • PNPLA2 (PNPLA2....)
  • PNPLA3 (PNPLA3....)
  • PNPLA6 (PNPLA6....)
  • PNPO (PNPO....)
  • POF1B (POF1B....)
  • POGZ (POGZ....)
  • POLB (POLB....)
  • POLD1 (POLD1....)
  • POLE2 (POLE2....)
  • POLG (POLG....)
  • POLG2 (POLG2....)
  • POLH (POLH....)
  • POLL (POLL....)
  • POLR1C (POLR1C....)
  • POLR1D (POLR1D....)
  • POLR2E (POLR2E....)
  • POLR2M (POLR2M....)
  • POLR3A (POLR3A....)
  • POLR3B (POLR3B....)
  • POLRMT (POLRMT....)
  • POMC (POMC....)
  • POMGNT1 (POMGNT1....)
  • POMGNT2 (POMGNT2....)
  • POMP (POMP....)
  • POMT1 (POMT1....)
  • POMT2 (POMT2....)
  • PON1 (PON1....)
  • PON2 (PON2....)
  • PON3 (PON3....)
  • POP1 (POP1....)
  • POR (POR....)
  • PORCN (PORCN....)
  • POU1F1 (POU1F1....)
  • POU3F4 (POU3F4....)
  • POU4F3 (POU4F3....)
  • POU5F1 (POU5F1....)
  • POU5F1B (POU5F1B....)
  • POU6F2 (POU6F2....)
  • PPARA (PPARA....)
  • PPARD (PPARD....)
  • PPARG (PPARG....)
  • PPARGC1A (PPARGC1A....)
  • PPARGC1B (PPARGC1B....)
  • PPAT (PPAT....)
  • PPIA (PPIA....)
  • PPIB (PPIB....)
  • PPIG (PPIG....)
  • PPM1D (PPM1D....)
  • PPOX (PPOX....)
  • PPP1R1A (PPP1R1A....)
  • PPP1R3A (PPP1R3A....)
  • PPP1R3C (PPP1R3C....)
  • PPP2R1A (PPP2R1A....)
  • PPP2R1B (PPP2R1B....)
  • PPP2R2B (PPP2R2B....)
  • PPP2R2C (PPP2R2C....)
  • PPT1 (PPT1....)
  • PQBP1 (PQBP1....)
  • PRB1 (PRB1....)
  • PRB3 (PRB3....)
  • PRB4 (PRB4....)
  • PRCD (PRCD....)
  • PRCP (PRCP....)
  • PRDM2 (PRDM2....)
  • PRDM5 (PRDM5....)
  • PRDM9 (PRDM9....)
  • PREPL (PREPL....)
  • PRF1 (PRF1....)
  • PRG4 (PRG4....)
  • PRICKLE1 (PRICKLE1....)
  • PRICKLE2 (PRICKLE2....)
  • PRKAA2 (PRKAA2....)
  • PRKACA (PRKACA....)
  • PRKAG2 (PRKAG2....)
  • PRKAG3 (PRKAG3....)
  • PRKAR1A (PRKAR1A....)
  • PRKCB (PRKCB....)
  • PRKCG (PRKCG....)
  • PRKCH (PRKCH....)
  • PRKCSH (PRKCSH....)
  • PRKD3 (PRKD3....)
  • PRKDC (PRKDC....)
  • PRKRA (PRKRA....)
  • PRL (PRL....)
  • PRLHR (PRLHR....)
  • PRLR (PRLR....)
  • PRM1 (PRM1....)
  • PRM2 (PRM2....)
  • PRMT10 (PRMT10....)
  • PRMT3 (PRMT3....)
  • PRMT7 (PRMT7....)
  • PRND (PRND....)
  • PRNP (PRNP....)
  • PROC (PROC....)
  • PROCR (PROCR....)
  • PRODH (PRODH....)
  • PROK1 (PROK1....)
  • PROK2 (PROK2....)
  • PROKR1 (PROKR1....)
  • PROKR2 (PROKR2....)
  • PROM1 (PROM1....)
  • PROP1 (PROP1....)
  • PROS1 (PROS1....)
  • PROZ (PROZ....)
  • PRPF3 (PRPF3....)
  • PRPF31 (PRPF31....)
  • PRPF6 (PRPF6....)
  • PRPF8 (PRPF8....)
  • PRPH (PRPH....)
  • PRPH2 (PRPH2....)
  • PRPS1 (PRPS1....)
  • PRRC2A (PRRC2A....)
  • PRRT2 (PRRT2....)
  • PRRX1 (PRRX1....)
  • PRSS1 (PRSS1....)
  • PRSS12 (PRSS12....)
  • PRSS2 (PRSS2....)
  • PRSS56 (PRSS56....)
  • PRSS8 (PRSS8....)
  • PRX (PRX....)
  • PRY2 (PRY2....)
  • PSAP (PSAP....)
  • PSAT1 (PSAT1....)
  • PSCA (PSCA....)
  • PSEN1 (PSEN1....)
  • PSEN2 (PSEN2....)
  • PSENEN (PSENEN....)
  • PSMA6 (PSMA6....)
  • PSMB8 (PSMB8....)
  • PSMB9 (PSMB9....)
  • PSMC3IP (PSMC3IP....)
  • PSMD7 (PSMD7....)
  • PSMG4 (PSMG4....)
  • PSPH (PSPH....)
  • PSPN (PSPN....)
  • PSTPIP1 (PSTPIP1....)
  • PTAFR (PTAFR....)
  • PTCD1 (PTCD1....)
  • PTCH1 (PTCH1....)
  • PTCH2 (PTCH2....)
  • PTCHD1 (PTCHD1....)
  • PTCHD3 (PTCHD3....)
  • PTCSC3 (PTCSC3....)
  • PTEN (PTEN....)
  • PTF1A (PTF1A....)
  • PTGDR (PTGDR....)
  • PTGDR2 (PTGDR2....)
  • PTGDS (PTGDS....)
  • PTGER2 (PTGER2....)
  • PTGER4 (PTGER4....)
  • PTGES2 (PTGES2....)
  • PTGIR (PTGIR....)
  • PTGIS (PTGIS....)
  • PTGS1 (PTGS1....)
  • PTGS2 (PTGS2....)
  • PTH (PTH....)
  • PTH1R (PTH1R....)
  • PTHLH (PTHLH....)
  • PTK7 (PTK7....)
  • PTPN1 (PTPN1....)
  • PTPN11 (PTPN11....)
  • PTPN13 (PTPN13....)
  • PTPN14 (PTPN14....)
  • PTPN2 (PTPN2....)
  • PTPN21 (PTPN21....)
  • PTPN22 (PTPN22....)
  • PTPN6 (PTPN6....)
  • PTPRB (PTPRB....)
  • PTPRC (PTPRC....)
  • PTPRCAP (PTPRCAP....)
  • PTPRD (PTPRD....)
  • PTPRF (PTPRF....)
  • PTPRJ (PTPRJ....)
  • PTPRK (PTPRK....)
  • PTPRO (PTPRO....)
  • PTPRQ (PTPRQ....)
  • PTPRT (PTPRT....)
  • PTRF (PTRF....)
  • PTS (PTS....)
  • PUS1 (PUS1....)
  • PVR (PVR....)
  • PVRL1 (PVRL1....)
  • PVRL3 (PVRL3....)
  • PVRL4 (PVRL4....)
  • PVT1 (PVT1....)
  • PWRN1 (PWRN1....)
  • PXDN (PXDN....)
  • PYCR1 (PYCR1....)
  • PYCRL (PYCRL....)
  • PYGL (PYGL....)
  • PYGM (PYGM....)
  • PYY (PYY....)
  • PZP (PZP....)
  • Periodic fever, familial (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Psoriasis 14, pustular (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Psoriasis 2 (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Properdin deficiency, X-linked (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • Poikiloderma with neutropenia (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Pyogenic bacterial infections, recurrent, due to MYD88 deficiency (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Predominantly antibody deficiency (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Primary ciliary dyskinesia (CCDC103, CCDC39, CCDC40, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DN....)
  • Progesterone resistance (....)
  • Pseudohermaphroditism, male, with gynecomastia (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Pseudovaginal perineoscrotal hypospadias (AR, MAMLD1, MID1, SPECC1L, SRD5A2....)
  • Perrault syndrome (BMP15, C10orf2, FSHR, HARS2, HSD17B4, LARS2, PSMC3IP....)
  • Precocious puberty (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)
  • Precocious puberty, central (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)
  • Precocious puberty, male (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)
  • Premature ovarian failure (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)
  • Premature ovarian failure (AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1....)