Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C4024213
Disease: Aplasia of the pectoralis major muscle
Aplasia of the pectoralis major muscle 		disease 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0452168
Disease: Hypospadias, balanic
Hypospadias, balanic 		disease 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.100 None 0 0
Entrez Id: 389827
Gene Symbol: MYMK
MYMK 		myomaker, myoblast fusion factor 0.659 0.538 1.8E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0