Gene |
Chromosome |
Location |
Syndrome |
Category |
P3H2 | 3 | q28 | Severe myopia with cataract and vitreoretinal degeneration (MCVD) | Cataracts | |
P4HB | 17 | q25.3 | Thyroid disorders | Hypothyroidism | |
PABPN1 | 14 | q11.2 | Oculopharyngeal muscular dystrophy | Muscular dystrophies | |
PACRG | 6 | q26 | Cerebral palsy - unassigned | Cerebral palsy | |
PACS1 | 11 | q13.1 | PACS1 syndrome | Autism spectrum | |
PADI4 | 1 | p36.13 | Rheumatoid arthritis | Arthritis | |
PAFAH1B1 | 17 | p13.3 | Microcephaly - other | Microcephaly | |
PAH | 12 | q23.2 | Microcephaly - other | Microcephaly | |
PAK2 | 3 | q29 | 3q29 microdeletion syndrome | Autism spectrum | |
PAK3 | 3 | q29 | 3q29 microdeletion syndrome | Autism spectrum | |
PALB2 | 16 | P12.2 | Microcephaly - other | Microcephaly | |
PARK10 | 1 | p32 | Parkinson disease age at onset | Parkinsonism |
PARK12 | 23/td> | q21-25 | Parkinson disease x-linked | Parkinsonism |
PARK2 | 6 | q26 | Autism 18 (AUTS18) | Autism spectrum | |
PARK3 | 2 | p13 | Parkinson disease autosomal dominant | Parkinsonism |
PARK7 | 1 | p36.23 | Parkinson disease - other | Parkinsonism | |
PAX5 | 9 | p13.2 | Autism 18 (AUTS18) | Autism spectrum | |
PAX6 | 11 | p13 | aniridia | Photophobia - sensitivity to light | |
PAX6 | 11 | p13 | Gillespie syndrome | Ataxia spectrum | |
PAX6 | 11 | p13 | WAGR Syndrome | Autism spectrum | |
PAX8 | 2 | q14.1 | Congenital hypothyroidism | Hypothyroidism | |
PBD9B | 6 | q23.3 | PEROXISOME BIOGENESIS DISORDER 9B | Autism spectrum | |
PCDH10 | 4 | q28.3 | PROTOCADHERIN 10 | Autism spectrum | |
PCDH11X | 23 | q21.31 | Autism 18 (AUTS18) | Autism spectrum | |
PCDH19 | 23 | q22.1 | Epileptic encephalopathy early infantile 9 (EIEE9) | Autism spectrum | |
PCH11 | 3 | q12.1-2 | PONTOCEREBELLAR HYPOPLASIA TYPE 11 | Autism spectrum | |
PCM1 | 8 | p22 | Thyroid disorders | Hypothyroidism | |
PCNT | 21 | q22.3 | Osteodysplastic primordial dwarfism type II | Microcephaly | |
PDE6C | 10 | q23.33 | Achromatopsia | Photophobia - sensitivity to light | |
PDE6H | 12 | p12.3 | Achromatopsia | Photophobia - sensitivity to light | |
PDHA1 | 23 | p22.12 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
PDHB | 3 | p14.3 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
PDHX | 11 | p13 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
PDP1 | 8 | q22.1 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
PDSS1 | 10 | p12.1 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
PDSS2 | 6 | q21 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
PDX1 | 13 | q12.2 | Permanent neonatal diabetes mellitus | Diabetes | |
PER2 | 2 | q37.3 | Autism 18 (AUTS18) | Autism spectrum | |
PER2 | 2 | q37.3 | Seasonal affective disorder | Sleep disorders | |
PER3 | 1 | p36.23 | Advanced sleep phase syndrome familial 3 (FASPS3) | Sleep disorders | |
PEX7 | 6 | q23.3 | Rhizomelic chondrodysplasia punctata type 1 | Rhizomelic chondrodysplasia punctata | |
PEX7 | 6 | q23.3 | Refsum disease | Ataxia spectrum | |
PFN1 | 17 | p13.2 | Huntington`s disease | Huntington`s disease spectrum | |
PGAP2 | 11 | p15.4 | Mabry syndrome | Autism spectrum | |
PGK1 | 23 | q13.3 | Phosphoglycerate kinase deficiency | Tachycardia (>100 beats/minute) | |
PHC1 | 12 | q13 | Microcephaly 11 primary autosomal recessive (MCPH11) | Microcephaly | |
PHF2 | 9 | q22.31 | Autism 18 (AUTS18) | Autism spectrum | |
PHF21A | 11 | p11 | Potocki-Shaffer syndrome | Autism spectrum | |
PHF3 | 6 | q12 | Autism 18 (AUTS18) | Autism spectrum | |
PHF6 | 23 | q26.2 | Boerjeson-Forssman-Lehmann syndrome | Epilepsy and seizures | |
PHF8 | 23 | p11.22 | Siderius-Hamel syndrome | Cleft lip / cleft palate | |
PHGDH | 1 | p12 | Phosphoglycerate dehydrogenase deficiency | Microcephaly | |
PHIP | 6 | q14.1 | Developmental delay intellectual disability obesity and dysmorphic features | Autism spectrum | |
PHMDS | 22 | q13.33 | Phelan-McDermid Syndrome | Autism spectrum | |
PHYH | 10 | p13 | Refsum disease | Ataxia spectrum | |
PI3K | 17 | p13.1 | Ataxia with oculomotor apraxia | Ataxia spectrum | |
PICALM | 11 | q14 | Alzheimer - late onset | Alzheimer Syndrome | |
PIEZO2 | 18 | p11.22 | Distal arthrogryposis type 3 | Arthrogryposis spectrum | |
PIGA | 23 | p22.1 | Paroxysmal nocturnal hemoglobinuria | Tachycardia (>100 beats/minute) | |
PIGH | 14 | q24.1 | PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS H PROTEIN | Autism spectrum | |
PIGO | 9 | p13.3 | Mabry syndrome | Autism spectrum | |
PIGV | 1 | p36.11 | Mabry syndrome | Autism spectrum | |
PIK3R1 | 5 | q13.1 | Type 2 Diabetes | Diabetes | |
PIK3R2 | 19 | p13.11 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Autism spectrum | |
PILBOS | 5 | q15-q21 | Pilarowski-Bjornsson syndrome | Autism spectrum | |
PINK1 | 1 | p36.12 | Parkinson disease - other | Parkinsonism | |
PIP4K2C | 12 | q13.3 | Rheumatoid arthritis | Arthritis | |
PIP5K1C | 19 | p13.3 | Lethal arthrogryposis with anterior horn cell disease | Arthrogryposis spectrum | |
PITX3 | 10 | q24.32 | Cataract 11 multiple types (CTRCT11) | Cataracts | |
PITX3 | 10 | q24.32 | Anterior segment dysgenesis 1 (ASGD1) | Cataracts | |
PKLR | 1 | q21 | Pyruvate kinase deficiency | Tachycardia (>100 beats/minute) | |
PKP2 | 12 | p11 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
PKS | 12 | p | PALLISTER-KILLIAN SYNDROME | Autism spectrum | |
PKU | 12 | q23.2 | PHENYLKETONURIA | Autism spectrum | |
PLA2G6 | 22 | q13.1 | Parkinson disease autosomal recessive | Parkinsonism |
PLA2G7 | 6 | p12-21.2 | Asthma-related traits (ASRT) | Asthma | |
PLAGL1 | 6 | q24.2 | 6q24-related transient neonatal diabetes mellitus | Diabetes | |
PLAU | 10 | q22.2 | Alzheimer - late onset | Alzheimer Syndrome | |
PLCB4 | 20 | p12 | Auriculo-condylar syndrome | Cleft lip / cleft palate | |
PLD3 | 19 | q13.2 | Alzheimer - late onset | Alzheimer Syndrome | |
PLEC | 8 | q24.3 | EB-PA Epidermolysis bullosa with pyloric atresia | Alopecia | |
PLIN1 | 15 | q26.1 | Familial partial lipodystrophy | Diabetes | |
PLK4 | 4 | q28 | Microcephaly and chorioretinopathy autosomal recessive 2 (MCCRP2) | Microcephaly | |
PLP1 | 23 | q22.2 | Pelizaeus-Merzbacher disease | Ataxia spectrum | |
PLPBP | 8 | p11.23 | Epilepsy early-onset vitamin B6-dependent | Epilepsy and seizures | |
PML | 15 | q24.1 | Acute lymphoblastic leukemia | Leukemia | |
PMM2 | 6 | p13.2 | PMM2-congenital disorder of glycosylation | Ataxia spectrum | |
PMP22 | 17 | p12 | Hereditary neuropathy with liability to pressure palsies | Cerebral palsy | |
PMPCA | 9 | q34.3 | Spinocerebellar ataxia autosomal recessive type 02 | Ataxia spectrum | |
PNKP | 19 | q13.33 | Ataxia with oculomotor apraxia | Ataxia spectrum | |
PNKP | 19 | q13.3-13.4 | Microcephaly seizures and developmental delay (MCSZ) | Microcephaly | |
PNP | 14 | q11.2 | Purine nucleoside phosphorylase deficiency | Ataxia spectrum | |
PNP0 | 17 | q21.32 | Pyridoxal 5`-phosphate-dependent epilepsy | Bradycardia (<60 beats/minute) | |
PNPLA1 | 6 | p21.31 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
PNPLA2 | 11 | p15.5 | Neutral lipid storage disease with myopathy | Hypothyroidism | |
PNPLA2 | 11 | p15.5 | Type 2 Diabetes | Diabetes | |
PNPLA3 | 22 | q13.31 | Non-alcoholic fatty liver disease | Diabetes | |
PNPLA6 | 19 | p13.2 | Gordon Holmes syndrome | Ataxia spectrum | |
PNPOD | 17 | q21.32 | PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | Autism spectrum | |
POGZ | 1 | q21.3 | Mental retardation autosomal dominant 37 (MRD37) | Autism spectrum | |
POLG | 15 | q26.1 | Ataxia neuropathy spectrum | Ataxia spectrum | |
POLG | 15 | q26.1 | Myoclonic epilepsy myopathy sensory ataxia | Epilepsy and seizures | |
POLG2 | 17 | q23.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |
POLR3A | 10 | q22.3 | Pol III-related leukodystrophy | Ataxia spectrum | |
POLR3B | 12 | q23.3 | Pol III-related leukodystrophy | Ataxia spectrum | |
POMGNT1 | 1 | p34.1 | Walker-Warburg syndrome | Microphthalmia | |
POMGNT2 | 3 | p22.1 | Walker-Warburg syndrome | Microphthalmia | |
POMK | 8 | p11.21 | Walker-Warburg syndrome | Microphthalmia | |
POMT1 | 9 | q34.13 | Walker-Warburg syndrome | Microphthalmia | |
POMT2 | 14 | q24.3 | Walker-Warburg syndrome | Microphthalmia | |
PON1 | 7 | q21.3 | Microvascular complications of diabetes 5 | Diabetes | |
POPCHAS | 8 | q22.3 | POPOV-CHANG SYNDROME | Autism spectrum | |
PORCN | 23 | p11.23 | Focal dermal hypoplasia | Cleft lip / cleft palate | |
POU3F1 | 1 | p34.3 | Rheumatoid arthritis | Arthritis | |
PPARG | 3 | p25.2 | Familial partial lipodystrophy | Diabetes | |
PPARG | 3 | p25.2 | Type 2 Diabetes | Diabetes | |
PPARGC1B | 5 | q32 | Type 2 Diabetes | Diabetes | |
PPP1CB | 2 | p23.2 | Noonan syndrome-like disorder with loose anagen hair 2 | Autism spectrum | |
PPP1R15B | 1 | q32.1 | Microcephaly - other | Microcephaly | |
PPP2R2B | 5 | q32 | Spinocerebellar ataxia type 12 | Ataxia spectrum | |
PPP2R2C | 4 | p16.1 | PROTEIN PHOSPHATASE 2 REGULATORY SUBUNIT B GAMMA ISOFORM | Autism spectrum | |
PPP2R5D | 6 | p21.1 | PPP2R5D-related intellectual disability | Autism spectrum | |
PPT1 | 1 | p32 | Infantile neuronal ceroid lipofuscinosis | Microcephaly | |
PPT1 | 1 | p34.2 | CLN1 disease | Epilepsy and seizures | |
PQBP1 | 23 | p11.23 | Renpenning syndrome | Microcephaly | |
PRAMEF13 | 1 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
PRAMEF16 | 1 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
PRAMEF19 | 1 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
PRAMEF20 | 1 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
PRAMEF8 | 1 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
PRAMEF9 | 1 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
PRDM1 | 6 | q21 | Rheumatoid arthritis | Arthritis | |
PRDM5 | 4 | q27 | Autism 18 (AUTS18) | Autism spectrum | |
PRICKLE1 | 12 | q12 | PRICKLE1-related progressive myoclonus epilepsy with ataxia | Ataxia spectrum | |
PRICKLE2 | 3 | p14.1 | progressive myoclonic epilepsy 5 | Epilepsy and seizures | |
PRIMS | 3 | q13.31 | Primrose syndrome | Autism spectrum | |
PRKAG2 | 7 | q36.1 | Wolff-Parkinson-White syndrome | Tachycardia (>100 beats/minute) | |
PRKCG | 19 | q13.42 | Spinocerebellar ataxia type 14 | Ataxia spectrum | |
PRKCQ | 10 | p15.1 | Rheumatoid arthritis | Arthritis | |
PRKN | 6 | q26 | Parkinson disease - other | Parkinsonism | |
PRNP | 20 | p13 | Wilson Disease - copper | Copper metabolism defects | |
PRNP | 20 | p13 | Huntington disease-like syndrome type 1 | Huntington`s disease spectrum | |
PRNP | 20 | p13 | Wilson disease | Panic phobia anxiety | |
PROK2 | 3 | p13 | Kallmann syndrome types 1 and 2 | Cleft lip / cleft palate | |
PROKR2 | 20 | p12.3 | Kallmann syndrome types 1 and 2 | Cleft lip / cleft palate | |
PRPH | 12 | q13.12 | ALS | ALS - amyotrophic lateral sclerosis | |
PRPS1 | 23 | q22.3 | Arts syndrome | Ataxia spectrum | |
PRSS1 | 7 | q34 | hereditary pancreatitis | Diabetes | |
PRSS56 | 2 | q37.1 | Microphthalmia syndromic 6 (MCOPS6) | Microphthalmia | |
PSEN1 | 14 | q24.3 | Alzheimer - early onset | Alzheimer Syndrome | |
PSEN2 | 1 | q42.13 | Alzheimer - early onset | Alzheimer Syndrome | |
PSMC3IP | 17 | q21.2 | Thyroid disorders | Hypothyroidism | |
PSMD12 | 17 | q24.2 | Stankiewicz-Isidor syndrome | Autism spectrum | |
PTBHS | 18 | p11.31 | PORETTI-BOLTSHAUSER SYNDROME | Autism spectrum | |
PTCH1 | 9 | q22.32 | Microcephaly - other | Microcephaly | |
PTCHD1 | 23 | p22.11 | Autism X-linked 4 (AUTSX4) | Autism spectrum | |
PTEN | 10 | q23.31 | Thyroid disorders | Hypothyroidism | |
PTEN | 10 | q23.31 | Cowder Syndrome | Autism spectrum | |
PTF1A | 10 | p12.2 | Zaki-Gleeson syndrome | Autism spectrum | |
PTGDR | 14 | q22.1 | Asthma-related traits 1 (ASRT1) | Asthma | |
PTGER2 | 14 | q22.1 | aspirin-induced susceptibility to asthma | Reye`s Syndrome-like diseases | |
PTGER2 | 14 | q22 | Asthma with nasal polyps and aspirin intolerance (ANPAI) | Asthma | |
PTHSL1 | 7 | q35-q36 | PITT-HOPKINS-LIKE SYNDROME 1 | Autism spectrum | |
PTHSL2 | 2 | p16.3 | Pitt-Hopkins-like syndrome 2 | Autism spectrum | |
PTLS | 17 | p11.2 | Potocki-Lupski syndrome | Autism spectrum | |
PTPN11 | 12 | q24.13 | Noonan syndrome | Autism spectrum | |
PTPN11 | 12 | q24.13 | Thyroid disorders | Hypothyroidism | |
PTPN2 | 18 | p11.21 | Ulcerative colitis | Irritable Bowel Disorders | |
PTPN22 | 1 | p13.2 | Rheumatoid arthritis | Arthritis | |
PTPN22 | 1 | p13.2 | Thyroid disorders | Hypothyroidism | |
PTPN22 | 1 | p13.2 | Graves disease - overactive thyroid | Hyperthyroidism | |
PTPN22 | 1 | p13.2 | Type 1 Diabetes | Diabetes | |
PTPRC | 1 | q31.3 | Rheumatoid arthritis | Arthritis | |
PTPRD | 9 | p24.1 | Restless legs syndrome | Sleep disorders | |
PTPRN | 2 | q35 | insulin-dependent diabetes mellitus | Diabetes | |
PTPRN2 | 7 | q36.3 | Type 2 Diabetes | Diabetes | |
PTRH2 | 17 | q23.1 | Microcephaly - other | Microcephaly | |
PUF60 | 8 | q24.3 | POLY-U-BINDING SPLICING FACTOR 60-KD | Autism spectrum | |
PURA | 5 | q31.3 | PURA syndrome | Epilepsy and seizures | |
PURA | 5 | q31.3 | PURA syndrome | Epilepsy and seizures | |
PVRL1 | 11 | q23.3 | Non-syndromic orofacial cleft 7 | Cleft lip / cleft palate | |
PXK | 3 | p14.3 | Rheumatoid arthritis | Arthritis | |