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: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		disease Disease or Syndrome 12 24 0.460 None 1.000 6 7 2004 2019
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
MYASTHENIC SYNDROME, CONGENITAL, 16 		disease Disease or Syndrome 1 10 0.600 None 1.000 4 10 2003 2016
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 3 3 2017 2019
CUI: C3149517
Disease: LARYNGOSPASM, SEVERE NEONATAL EPISODIC
LARYNGOSPASM, SEVERE NEONATAL EPISODIC 		disease Disease or Syndrome 1 0.030 None 1.000 3 2010 2015
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 1.000 2 2 2004 2008
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 1.000 2 2 2004 2008
CUI: C0856123
Disease: Myotonia aggravated
Myotonia aggravated 		disease Disease or Syndrome 1 0.020 None 1.000 2 1993 2017
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 1.000 2 2 2004 2008
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 1.000 2 2 2004 2008
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype Finding 50 4 0.100 None 1.000 2 2 2004 2008
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		phenotype Finding 38 19 0.100 None 1.000 2 2 2004 2008
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		phenotype Finding 11 15 0.100 None 1.000 2 2 2004 2008
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition 		disease Disease or Syndrome 72 2 0.010 None 1.000 1 2013 2013
CUI: C1321422
Disease: Monoblastic leukemia
Monoblastic leukemia 		disease Neoplastic Process 14 0.010 None 1.000 1 1993 1993
CUI: C2750473
Disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 		disease Finding 2 6 0.300 None 1.000 1 2004 2004
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		phenotype Finding 39 4 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		phenotype Finding 29 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1834536
Disease: Weakness of the intrinsic hand muscles
Weakness of the intrinsic hand muscles 		phenotype Finding 21 0.100 None 0