PDE4D, phosphodiesterase 4D, 5144

N. diseases: 210; N. variants: 68
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 10 0.710 None 1.000 5 10 2012 2017
CUI: C1300261
Disease: Acroscyphodysplasia
Acroscyphodysplasia 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C3276228
Disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 6 0.500 strong 1.000 1 2013 2013
CUI: C4721502
Disease: Peripheral dysostosis
Peripheral dysostosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.300 None 0
CUI: C1862170
Disease: Brachydactyly with hypertension
Brachydactyly with hypertension 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 3 5 0.010 None 1.000 1 2017 2017
CUI: C4021651
Disease: Hypoplasia of the nasal bone
Hypoplasia of the nasal bone 		phenotype Finding 3 0.100 None 0
CUI: C4024667
Disease: Congenital craniofacial dysostosis
Congenital craniofacial dysostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 0.100 None 0
CUI: C1300206
Disease: Blomstrand dysplasia
Blomstrand dysplasia 		disease Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1262005
Disease: Ischaemic cerebral infarction
Ischaemic cerebral infarction 		disease Disease or Syndrome 6 0.010 None 1.000 1 2010 2010
CUI: C1832598
Disease: Narrow vertebral interpedicular distance
Narrow vertebral interpedicular distance 		phenotype Finding 6 0.100 None 0
CUI: C1856639
Disease: Absent/hypoplastic paranasal sinuses
Absent/hypoplastic paranasal sinuses 		phenotype Finding 6 0.100 None 0
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		phenotype Pathological Conditions, Signs and Symptoms Finding 9 3 0.100 None 0
CUI: C0239803
Disease: Red hair
Red hair 		phenotype Finding 9 1 0.100 None 0
CUI: C1863353
Disease: Hypoplastic vertebral bodies
Hypoplastic vertebral bodies 		phenotype Finding 11 0.100 None 0
CUI: C0262469
Disease: Embolic stroke
Embolic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 2015 2015
CUI: C0239801
Disease: Blonde hair
Blonde hair 		phenotype Finding 13 0.100 None 0
CUI: C0221100
Disease: Hangover from any Alcohol or Other Drugs substance
Hangover from any Alcohol or Other Drugs substance 		phenotype Sign or Symptom 14 0.010 None 1.000 1 2017 2017
CUI: C0021308
Disease: Infarction
Infarction 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 0.020 None 1.000 2 2005 2005
CUI: C4021822
Disease: Abnormality of female external genitalia
Abnormality of female external genitalia 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C0013393
Disease: Dysostoses
Dysostoses 		disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2017 2017
CUI: C0393756
Disease: Hangover from alcohol
Hangover from alcohol 		phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 16 0.010 None 1.000 1 2017 2017
CUI: C4699508
Disease: Cardioembolism (high-risk/medium-risk)
Cardioembolism (high-risk/medium-risk) 		disease Disease or Syndrome 16 4 0.010 None 1.000 1 2007 2007
CUI: C1849221
Disease: Fair hair
Fair hair 		phenotype Finding 17 5 0.100 None 0
CUI: C1868394
Disease: Elevated calcitonin
Elevated calcitonin 		phenotype Finding 17 0.100 None 0
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level 		phenotype Finding 18 1 0.100 None 0