Gene Role Disease OMIM Descriptions Sources
PABPN1 causing OPMD 164300 The disease is caused by mutations affecting the gene represented in this entry. A form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. [read more] 9462747
12673802
PACS1 causing MRD17 615009 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD17 patients have intellectual disability in combination with distinct craniofacial features and genital abnormalities. [read more] 23159249
PAH causing Non-PKU HPA 261600 The disease is caused by mutations affecting the gene represented in this entry. Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. [read more]
PAH causing PKU 261600 The disease is caused by mutations affecting the gene represented in this entry. Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. [read more] 8594560
2840952
2564729
2615649
1975559
1671810
2014802
1672294
1672290
1679030
1709636
1355066
1363837
1363838
8406445
8068076
7833954
8889583
8889590
9048935
9101291
9521426
9600453
10200057
9452061
9452062
9792407
9792411
9950317
10679941
11326337
11180595
11385716
11461196
12501224
18538294
23792259
22526846
22513348
PAK3 causing MRX30 300558 The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. [read more] 9731525
10946356
12884430
PANK2 causing NBIA1 234200 The disease is caused by mutations affecting the gene represented in this entry. Autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in first decade with slow progression or onset in second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI. [read more] 11479594
12510040
15834858
PAPSS2 causing SEMD-PA 612847 The disease is caused by mutations affecting the gene represented in this entry. A bone disease characterized by epiphyseal dysplasia with mild metaphyseal abnormalities. Clinical features include short stature evidenced at birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints. Some patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature. [read more] 19474428
9714015
PARK7 causing PARK7 606324 The disease is caused by mutations affecting the gene represented in this entry. A neurodegenerative disorder characterized by resting tremor, postural tremor, bradykinesia, muscular rigidity, anxiety and psychotic episodes. PARK7 has onset before 40 years, slow progression and initial good response to levodopa. Some patients may show traits reminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease). [read more] 12851414
12446870
14713311
12953260
15365989
14607841
15254937
17846173
PARP9 Overexpressed at significantly higher levels in fatal high-risk diffuse large B-cell lymphomas (DLB-CL) compared to cured low-risk tumors. Overexpression in B-cell lymphoma transfectants may promote malignant B-cell migration. May therefore be involved in promoting B-cell migration and dissemination of high-risk DLB-CL tumors. [read more]
PAX6 causing AN 106210 The disease is caused by mutations affecting the gene represented in this entry. A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. [read more] 10346815
8364574
8640214
9147640
9281415
9792406
9856761
10234503
9931324
10737978
11553050
11309364
11826019
12721955
12634864
12552561
16493447
21850189