|
481
|
|
|
Paired like homeodomain 1 |
BFT, CCF, LBNBG, POTX, PTX1 |
Autism, Brachydactyly, Brachydactyly with joint dysplasia, Brachydactyly-elbow wrist dysplasia syndrome, Camptodactyly of fingers, Clubfoot, Congenital clubfoot, Elbow flexion contracture, Laurin-sandrow syndrome, Liver carcinoma, Macrocephaly, Polydactyly, Syndactyly of fingers, Testicular neoplasms, Testicular germ cell tumor |
|
482
|
|
|
Paired like homeodomain 2 |
ARP1, ASGD4, Brx1, IDG2, IGDS, IGDS2, IHG2, IRID2, Otlx2, PTX2, RGS, RIEG, RIEG1, RS |
Aniridia, Anterior pituitary dysgenesis, Anterior segment dysgenesis, Atrial fibrillation, Axenfeld anomaly, Cataract, Congenital heart defects, Congenital keratoglobus, Conjunctival dermolipoma, Corneal astigmatism, Disorder of eye, Glaucoma, Glaucoma, congenital, Hypodontia, Hypoplasia of iris, Hypoplasia of the maxilla, Hypospadias, Imperforate anus, Isolated somatotropin deficiency, Microcornea, Microdontia, Nystagmus, Odontome, Paroxysmal atrial fibrillation, Polycoria, Posterior embryotoxon, Rieger syndrome, Ring dermoid of cornea, Somatotropin deficiency, Strabismus, Stroke, Subcapsular cataract, SynechiaeView all (18 more) |
|
483
|
|
|
Paired like homeodomain 3 |
ASGD1, ASMD, ASOD, CTPP4, CTRCT11, PTX3 |
Anhedonia, Anterior segment dysgenesis, Capsular cataract, Cataract, Cataract with microphthalmia and neurodevelopmental abnormalities, Cataract-glaucoma syndrome, Disorder of eye, Mental depression, Mental retardation, Microcornea, Microphthalmos, Ocular hypertension, Prostatic neoplasms, Prostate cancer, Schizophrenia, Segment dysgenesisView all (1 more) |
|
484
|
|
|
Polycystin 1, transient receptor potential channel interacting |
PBP, PC1, Pc-1, TRPP1, eliosin |
Connective tissue disease, Cyst, Dysmorphic features, Hemangioma, Hypertension, Kidney disease, Liver cyst, Multicystic renal dysplasia, Multiple renal cysts, Pancreatic cyst, Polycystic kidney disease, Polycystic kidney disease with tuberous sclerosis, Polycystic kidney disease with or without polycystic liver disease, Polycystic liver disease, Renal insufficiency, Thoracic aortic aneurysm and aortic dissectionView all (1 more) |
|
485
|
|
|
Polycystin 2, transient receptor potential cation channel |
APKD2, PC2, PKD4, Pc-2, TRPP2 |
Breast carcinoma, Ciliopathies, Connective tissue disease, Degenerative diseases, central nervous system, Gout, Gouty arthritis, Hypertension, Kidney disease, Multicystic renal dysplasia, Multiple congenital anomalies, Neurodegenerative disorders, Polycystic kidney disease, Polycystic liver disease, Retinal diseases, Thoracic aortic aneurysm and aortic dissection, Vascular diseasesView all (1 more) |
|
486
|
|
|
Pyruvate kinase L/R |
CNSHA2, PK1, PKL, PKRL, RPK |
Anemia, Cholecystitis, Cholelithiasis, Deficiency of pyruvate kinase, Enzymopathy, Erythrocytosis, Hemolytic anemia, Hydrops fetalis, Hyperbilirubinemia, Mental depression, Polycythemia |
|
487
|
|
|
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
ARPKD, FCYT, FPC, PCYT, PKD4, TIGM1 |
Cardiovascular diseases, Caroli disease, Choledochal cyst, Ciliopathies, Colorectal cancer, Congenital hepatic fibrosis, Pulmonary hypoplasia, Cystathionine beta-synthase deficiency disease, Esophageal varix, Hypertension, Leukemia, Liver cyst, Macrotia, Micrognathism, Multiple renal cysts, Nephronophthisis, Pancreatic cyst, Polycystic kidney disease, Polycystic liver disease, Portal hypertension, Renal cyst, Renal insufficiency, Ventricular hypertrophyView all (8 more) |
|
488
|
|
|
Pyruvate kinase M1/2 |
CTHBP, HEL-S-30, OIP3, PK3, PKM2, TCB, THBP1, p58 |
|
|
489
|
|
|
PBX/knotted 1 homeobox 1 |
PREP1, pkonx1c |
|
|
490
|
|
|
Plakophilin 1 |
B6P, EDSFS |
|
