SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
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: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.030 None 1.000 3 2016 2020
CUI: C0376154
Disease: Skin callus
Skin callus 		disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0.010 None < 0.001 1 2017 2017
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2018 2018
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0795693
Disease: Skeletal malformation
Skeletal malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Anatomical Abnormality 6 0.090 None 0.889 9 1996 2017
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.030 None 1.000 3 1997 2013
CUI: C0032584
Disease: polyps
polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2015 2015
CUI: C1260954
Disease: Morphologically altered structure
Morphologically altered structure 		disease Anatomical Abnormality 46 0.010 None 1.000 1 2013 2013
CUI: C2717759
Disease: Degenerative Intervertebral Discs
Degenerative Intervertebral Discs 		disease Musculoskeletal Diseases Anatomical Abnormality 23 0.010 None 1.000 1 2015 2015
CUI: C3495890
Disease: Osteochondral defects
Osteochondral defects 		phenotype Anatomical Abnormality 17 0.010 None 1.000 1 2018 2018
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0
CUI: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C4023133
Disease: Shortening of all phalanges of fingers
Shortening of all phalanges of fingers 		disease Anatomical Abnormality 3 1 0.100 None 0
CUI: C4025257
Disease: Shortening of all phalanges of the toes
Shortening of all phalanges of the toes 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		disease Anatomical Abnormality 23 0.100 None 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum 		disease Anatomical Abnormality 13 2 0.100 None 0
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 39 3 0.700 strong 0.867 15 1996 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 11 1 1995 2018
CUI: C0265509
Disease: Congenital anomaly of skeletal bone
Congenital anomaly of skeletal bone 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 8 0.090 None 0.889 9 1996 2017