Names of Genes

Gene Chromosome Location Syndrome Category
P3H23q28Severe myopia with cataract and vitreoretinal degeneration (MCVD)Cataracts
P4HB17q25.3Thyroid disordersHypothyroidism
PABPN114q11.2Oculopharyngeal muscular dystrophyMuscular dystrophies
PACRG6q26Cerebral palsy - unassignedCerebral palsy
PACS111q13.1PACS1 syndromeAutism spectrum
PADI41p36.13Rheumatoid arthritisArthritis
PAFAH1B117p13.3Microcephaly - otherMicrocephaly
PAH12q23.2Microcephaly - otherMicrocephaly
PAK23q293q29 microdeletion syndromeAutism spectrum
PAK33q293q29 microdeletion syndromeAutism spectrum
PALB216P12.2Microcephaly - otherMicrocephaly
PARK101p32Parkinson disease age at onsetParkinsonism
PARK1223/td>q21-25Parkinson disease x-linkedParkinsonism
PARK26q26Autism 18 (AUTS18)Autism spectrum
PARK32p13Parkinson disease autosomal dominantParkinsonism
PARK71p36.23Parkinson disease - otherParkinsonism
PAX59p13.2Autism 18 (AUTS18)Autism spectrum
PAX611p13aniridiaPhotophobia - sensitivity to light
PAX611p13Gillespie syndromeAtaxia spectrum
PAX611p13WAGR SyndromeAutism spectrum
PAX82q14.1Congenital hypothyroidismHypothyroidism
PBD9B6q23.3PEROXISOME BIOGENESIS DISORDER 9BAutism spectrum
PCDH104q28.3PROTOCADHERIN 10Autism spectrum
PCDH11X23q21.31Autism 18 (AUTS18)Autism spectrum
PCDH1923q22.1Epileptic encephalopathy early infantile 9 (EIEE9)Autism spectrum
PCH113q12.1-2PONTOCEREBELLAR HYPOPLASIA TYPE 11Autism spectrum
PCM18p22Thyroid disordersHypothyroidism
PCNT21q22.3Osteodysplastic primordial dwarfism type IIMicrocephaly
PDE6C10q23.33AchromatopsiaPhotophobia - sensitivity to light
PDE6H12p12.3AchromatopsiaPhotophobia - sensitivity to light
PDHA123p22.12Pyruvate dehydrogenase deficiencyAtaxia spectrum
PDHB3p14.3Pyruvate dehydrogenase deficiencyAtaxia spectrum
PDHX11p13Pyruvate dehydrogenase deficiencyAtaxia spectrum
PDP18q22.1Pyruvate dehydrogenase deficiencyAtaxia spectrum
PDSS110p12.1Primary coenzyme Q10 deficiencyAtaxia spectrum
PDSS26q21Primary coenzyme Q10 deficiencyAtaxia spectrum
PDX113q12.2Permanent neonatal diabetes mellitusDiabetes
PER22q37.3Autism 18 (AUTS18)Autism spectrum
PER22q37.3Seasonal affective disorderSleep disorders
PER31p36.23Advanced sleep phase syndrome familial 3 (FASPS3)Sleep disorders
PEX76q23.3Rhizomelic chondrodysplasia punctata type 1Rhizomelic chondrodysplasia punctata
PEX76q23.3Refsum diseaseAtaxia spectrum
PFN117p13.2Huntington`s diseaseHuntington`s disease spectrum
PGAP211p15.4Mabry syndromeAutism spectrum
PGK123q13.3Phosphoglycerate kinase deficiencyTachycardia (>100 beats/minute)
PHC112q13Microcephaly 11 primary autosomal recessive (MCPH11)Microcephaly
PHF29q22.31Autism 18 (AUTS18)Autism spectrum
PHF21A11p11Potocki-Shaffer syndromeAutism spectrum
PHF36q12Autism 18 (AUTS18)Autism spectrum
PHF623q26.2Boerjeson-Forssman-Lehmann syndromeEpilepsy and seizures
PHF823p11.22Siderius-Hamel syndromeCleft lip / cleft palate
PHGDH1p12Phosphoglycerate dehydrogenase deficiencyMicrocephaly
PHIP6q14.1Developmental delay intellectual disability obesity and dysmorphic featuresAutism spectrum
PHMDS22q13.33Phelan-McDermid SyndromeAutism spectrum
PHYH10p13Refsum diseaseAtaxia spectrum
PI3K17p13.1Ataxia with oculomotor apraxiaAtaxia spectrum
PICALM11q14Alzheimer - late onsetAlzheimer Syndrome
PIEZO218p11.22Distal arthrogryposis type 3Arthrogryposis spectrum
PIGA23p22.1Paroxysmal nocturnal hemoglobinuriaTachycardia (>100 beats/minute)
PIGH14q24.1PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS H PROTEINAutism spectrum
PIGO9p13.3Mabry syndromeAutism spectrum
PIGV1p36.11Mabry syndromeAutism spectrum
PIK3R15q13.1Type 2 DiabetesDiabetes
PIK3R219p13.11Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeAutism spectrum
PILBOS5q15-q21Pilarowski-Bjornsson syndromeAutism spectrum
PINK11p36.12Parkinson disease - otherParkinsonism
PIP4K2C12q13.3Rheumatoid arthritisArthritis
PIP5K1C19p13.3Lethal arthrogryposis with anterior horn cell diseaseArthrogryposis spectrum
PITX310q24.32Cataract 11 multiple types (CTRCT11)Cataracts
PITX310q24.32Anterior segment dysgenesis 1 (ASGD1)Cataracts
PKLR1q21Pyruvate kinase deficiencyTachycardia (>100 beats/minute)
PKP212p11Arrhythmogenic right ventricular cardiomyopathyTachycardia (>100 beats/minute)
PKS12pPALLISTER-KILLIAN SYNDROMEAutism spectrum
PKU12q23.2PHENYLKETONURIAAutism spectrum
PLA2G622q13.1Parkinson disease autosomal recessiveParkinsonism
PLA2G76p12-21.2Asthma-related traits (ASRT)Asthma
PLAGL16q24.26q24-related transient neonatal diabetes mellitusDiabetes
PLAU10q22.2Alzheimer - late onsetAlzheimer Syndrome
PLCB420p12Auriculo-condylar syndromeCleft lip / cleft palate
PLD319q13.2Alzheimer - late onsetAlzheimer Syndrome
PLEC8q24.3EB-PA Epidermolysis bullosa with pyloric atresiaAlopecia
PLIN115q26.1Familial partial lipodystrophyDiabetes
PLK44q28Microcephaly and chorioretinopathy autosomal recessive 2 (MCCRP2)Microcephaly
PLP123q22.2Pelizaeus-Merzbacher diseaseAtaxia spectrum
PLPBP8p11.23Epilepsy early-onset vitamin B6-dependentEpilepsy and seizures
PML15q24.1Acute lymphoblastic leukemiaLeukemia
PMM26p13.2PMM2-congenital disorder of glycosylationAtaxia spectrum
PMP2217p12Hereditary neuropathy with liability to pressure palsiesCerebral palsy
PMPCA9q34.3Spinocerebellar ataxia autosomal recessive type 02Ataxia spectrum
PNKP19q13.33Ataxia with oculomotor apraxiaAtaxia spectrum
PNKP19q13.3-13.4Microcephaly seizures and developmental delay (MCSZ)Microcephaly
PNP14q11.2Purine nucleoside phosphorylase deficiencyAtaxia spectrum
PNP017q21.32Pyridoxal 5`-phosphate-dependent epilepsyBradycardia (<60 beats/minute)
PNPLA16p21.31NBCIE Nonbullous congenital ichthyosiform erythrodermaAlopecia
PNPLA211p15.5Neutral lipid storage disease with myopathyHypothyroidism
PNPLA211p15.5Type 2 DiabetesDiabetes
PNPLA322q13.31Non-alcoholic fatty liver diseaseDiabetes
PNPLA619p13.2Gordon Holmes syndromeAtaxia spectrum
PNPOD17q21.32PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCYAutism spectrum
POGZ1q21.3Mental retardation autosomal dominant 37 (MRD37)Autism spectrum
POLG15q26.1Ataxia neuropathy spectrumAtaxia spectrum
POLG15q26.1Myoclonic epilepsy myopathy sensory ataxiaEpilepsy and seizures
POLG217q23.3Progressive external ophthalmoplegiaAtaxia spectrum
POLR3A10q22.3Pol III-related leukodystrophyAtaxia spectrum
POLR3B12q23.3Pol III-related leukodystrophyAtaxia spectrum
POMGNT11p34.1Walker-Warburg syndromeMicrophthalmia
POMGNT23p22.1Walker-Warburg syndromeMicrophthalmia
POMK8p11.21Walker-Warburg syndromeMicrophthalmia
POMT19q34.13Walker-Warburg syndromeMicrophthalmia
POMT214q24.3Walker-Warburg syndromeMicrophthalmia
PON17q21.3Microvascular complications of diabetes 5Diabetes
POPCHAS8q22.3POPOV-CHANG SYNDROMEAutism spectrum
PORCN23p11.23Focal dermal hypoplasiaCleft lip / cleft palate
POU3F11p34.3Rheumatoid arthritisArthritis
PPARG3p25.2Familial partial lipodystrophyDiabetes
PPARG3p25.2Type 2 DiabetesDiabetes
PPARGC1B5q32Type 2 DiabetesDiabetes
PPP1CB2p23.2Noonan syndrome-like disorder with loose anagen hair 2Autism spectrum
PPP1R15B1q32.1Microcephaly - otherMicrocephaly
PPP2R2B5q32Spinocerebellar ataxia type 12Ataxia spectrum
PPP2R2C4p16.1PROTEIN PHOSPHATASE 2 REGULATORY SUBUNIT B GAMMA ISOFORMAutism spectrum
PPP2R5D6p21.1PPP2R5D-related intellectual disabilityAutism spectrum
PPT11p32Infantile neuronal ceroid lipofuscinosisMicrocephaly
PPT11p34.2CLN1 diseaseEpilepsy and seizures
PQBP123p11.23Renpenning syndromeMicrocephaly
PRAMEF131p36.21Autism 18 (AUTS18)Autism spectrum
PRAMEF161p36.21Autism 18 (AUTS18)Autism spectrum
PRAMEF191p36.21Autism 18 (AUTS18)Autism spectrum
PRAMEF201p36.21Autism 18 (AUTS18)Autism spectrum
PRAMEF81p36.21Autism 18 (AUTS18)Autism spectrum
PRAMEF91p36.21Autism 18 (AUTS18)Autism spectrum
PRDM16q21Rheumatoid arthritisArthritis
PRDM54q27 Autism 18 (AUTS18)Autism spectrum
PRICKLE112q12PRICKLE1-related progressive myoclonus epilepsy with ataxiaAtaxia spectrum
PRICKLE23p14.1progressive myoclonic epilepsy 5Epilepsy and seizures
PRIMS3q13.31Primrose syndromeAutism spectrum
PRKAG27q36.1Wolff-Parkinson-White syndromeTachycardia (>100 beats/minute)
PRKCG19q13.42Spinocerebellar ataxia type 14Ataxia spectrum
PRKCQ10p15.1Rheumatoid arthritisArthritis
PRKN6q26Parkinson disease - otherParkinsonism
PRNP20p13Wilson Disease - copperCopper metabolism defects
PRNP20p13Huntington disease-like syndrome type 1Huntington`s disease spectrum
PRNP20p13Wilson diseasePanic phobia anxiety
PROK23p13Kallmann syndrome types 1 and 2Cleft lip / cleft palate
PROKR220p12.3Kallmann syndrome types 1 and 2Cleft lip / cleft palate
PRPH12q13.12ALSALS - amyotrophic lateral sclerosis
PRPS123q22.3Arts syndromeAtaxia spectrum
PRSS17q34hereditary pancreatitisDiabetes
PRSS562q37.1Microphthalmia syndromic 6 (MCOPS6)Microphthalmia
PSEN114q24.3Alzheimer - early onsetAlzheimer Syndrome
PSEN21q42.13Alzheimer - early onsetAlzheimer Syndrome
PSMC3IP17q21.2Thyroid disordersHypothyroidism
PSMD1217q24.2Stankiewicz-Isidor syndromeAutism spectrum
PTBHS18p11.31PORETTI-BOLTSHAUSER SYNDROMEAutism spectrum
PTCH19q22.32Microcephaly - otherMicrocephaly
PTCHD123p22.11Autism X-linked 4 (AUTSX4)Autism spectrum
PTEN10q23.31Thyroid disordersHypothyroidism
PTEN10q23.31Cowder SyndromeAutism spectrum
PTF1A10p12.2Zaki-Gleeson syndromeAutism spectrum
PTGDR14q22.1Asthma-related traits 1 (ASRT1)Asthma
PTGER214q22.1aspirin-induced susceptibility to asthmaReye`s Syndrome-like diseases
PTGER214q22Asthma with nasal polyps and aspirin intolerance (ANPAI)Asthma
PTHSL17q35-q36PITT-HOPKINS-LIKE SYNDROME 1Autism spectrum
PTHSL22p16.3Pitt-Hopkins-like syndrome 2Autism spectrum
PTLS17p11.2Potocki-Lupski syndromeAutism spectrum
PTPN1112q24.13Noonan syndromeAutism spectrum
PTPN1112q24.13Thyroid disordersHypothyroidism
PTPN218p11.21Ulcerative colitisIrritable Bowel Disorders
PTPN221p13.2Rheumatoid arthritisArthritis
PTPN221p13.2Thyroid disordersHypothyroidism
PTPN221p13.2Graves disease - overactive thyroidHyperthyroidism
PTPN221p13.2Type 1 DiabetesDiabetes
PTPRC1q31.3Rheumatoid arthritisArthritis
PTPRD9p24.1Restless legs syndromeSleep disorders
PTPRN2q35insulin-dependent diabetes mellitusDiabetes
PTPRN27q36.3Type 2 DiabetesDiabetes
PTRH217q23.1Microcephaly - otherMicrocephaly
PUF608q24.3POLY-U-BINDING SPLICING FACTOR 60-KDAutism spectrum
PURA5q31.3PURA syndromeEpilepsy and seizures
PURA5q31.3PURA syndromeEpilepsy and seizures
PVRL111q23.3Non-syndromic orofacial cleft 7Cleft lip / cleft palate
PXK3p14.3Rheumatoid arthritisArthritis


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