TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
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: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.070 None 0.857 7 2008 2019
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome 		disease Disease or Syndrome 2 1 0.350 None 1.000 6 1 1995 2019
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma 		disease Neoplastic Process 45 0.030 None 1.000 3 2006 2016
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.020 None 1.000 2 2014 2018
CUI: C0424101
Disease: Inattention
Inattention 		phenotype Mental or Behavioral Dysfunction 66 22 0.020 None 1.000 2 2012 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1994 2013
CUI: C2220255
Disease: Motor disturbances
Motor disturbances 		phenotype Sign or Symptom 16 1 0.020 None 1.000 2 2017 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2016 2016
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		disease Disease or Syndrome 10 8 0.010 None 1.000 1 2020 2020
CUI: C2062441
Disease: Influenza A
Influenza A 		disease Disease or Syndrome 563 19 0.010 None 1.000 1 2019 2019
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		disease Neoplastic Process 236 4 0.010 None 1.000 1 1989 1989
CUI: C2748361
Disease: H5N1 influenza
H5N1 influenza 		disease Disease or Syndrome 31 1 0.010 None 1.000 1 2019 2019
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 247 76 0.010 None < 0.001 1 2019 2019
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1 		disease Disease or Syndrome 66 14 0.010 None 1.000 1 2019 2019
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2016 2016
CUI: C3668948
Disease: Circling behavior
Circling behavior 		phenotype Mental or Behavioral Dysfunction 14 0.010 None 1.000 1 2017 2017
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.010 None 1.000 1 1996 1996
CUI: C3827733
Disease: Umbilical cord occlusion
Umbilical cord occlusion 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		disease Disease or Syndrome 39 9 0.010 None 1.000 1 2007 2007
CUI: C4509226
Disease: Heart failure with preserved ejection fraction [HFpEF]
Heart failure with preserved ejection fraction [HFpEF] 		disease Disease or Syndrome 89 4 0.010 None 1.000 1 2019 2019
CUI: C0028081
Disease: Night sweats
Night sweats 		phenotype Sign or Symptom 17 0.100 None 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		phenotype Finding 50 25 0.100 None 0