PROP1, PROP paired-like homeobox 1, 5626

N. diseases: 117; N. variants: 30
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.060 None 1.000 6 1998 2007
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.040 None 0.750 4 2006 2015
CUI: C0877018
Disease: Pituitary enlargement
Pituitary enlargement 		phenotype Sign or Symptom 1 0.020 None 1.000 2 2006 2009
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2004 2004
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland 		disease Anatomical Abnormality 7 4 0.010 None 1.000 1 2004 2004
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype Finding 77 3 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype Finding 117 1 0.100 None 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		phenotype Finding 12 0.100 None 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		phenotype Finding 18 1 0.100 None 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate 		disease Congenital Abnormality 15 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		phenotype Finding 16 2 0.100 None 0
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis 		phenotype Finding 8 0.100 None 0
CUI: C4021551
Disease: Absence of secondary sex characteristics
Absence of secondary sex characteristics 		phenotype Finding 44 0.100 None 0
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease Congenital Abnormality 85 28 0.100 None 0
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level 		phenotype Finding 9 0.100 None 0
CUI: C4022751
Disease: Ectopic anterior pituitary gland
Ectopic anterior pituitary gland 		disease Congenital Abnormality 7 0.100 None 0
CUI: C4023911
Disease: Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the breasts 		phenotype Finding 16 0.100 None 0
CUI: C4024171
Disease: Abnormality of secondary sexual hair
Abnormality of secondary sexual hair 		disease Finding 7 0.100 None 0