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: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.420 strong 1.000 0 0 2005 2013
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		disease 0.400 None 1.000 0 0 2006 2020
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity 		disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1301937
Disease: Talipes
Talipes 		disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1862479
Disease: Absent phalangeal crease
Absent phalangeal crease 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C4048199
Disease: Ulnar deviation of the hand or of fingers of the hand
Ulnar deviation of the hand or of fingers of the hand 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C4021959
Disease: Round ear
Round ear 		disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1866487
Disease: Prominent nasolabial fold
Prominent nasolabial fold 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2 		troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0026034
Disease: Microstomia
Microstomia 		disease 0.100 None 0 0