NOG, noggin, 9241

N. diseases: 206; N. variants: 17
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: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		phenotype Finding 23 1 0.100 None 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype Finding 211 25 0.100 None 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		phenotype Finding 49 2 0.100 None 0
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		phenotype Finding 32 3 0.100 None 0
CUI: C1865992
Disease: Short hallux
Short hallux 		phenotype Finding 23 0.100 None 0
CUI: C1866657
Disease: Congenital stapes ankylosis
Congenital stapes ankylosis 		phenotype Finding 1 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		disease Congenital Abnormality 20 1 0.100 None 0
CUI: C4021390
Disease: Symphalangism affecting the phalanges of the hand
Symphalangism affecting the phalanges of the hand 		disease Anatomical Abnormality 13 0.100 None 0
CUI: C4021607
Disease: Proximal symphalangism of hands
Proximal symphalangism of hands 		disease Musculoskeletal Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C4021771
Disease: Short distal phalanx of toe
Short distal phalanx of toe 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C4023976
Disease: Aplasia/Hypoplasia of the middle phalanges of the toes
Aplasia/Hypoplasia of the middle phalanges of the toes 		phenotype Finding 2 0.100 None 0
CUI: C4024674
Disease: Hypoplastic spinal processes
Hypoplastic spinal processes 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025117
Disease: Metacarpophalangeal synostosis
Metacarpophalangeal synostosis 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		disease Anatomical Abnormality 17 1 0.100 None 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.100 None 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease Congenital Abnormality 85 16 0.100 None 0
CUI: C1862479
Disease: Absent phalangeal crease
Absent phalangeal crease 		phenotype Finding 3 0.100 None 0
CUI: C1862158
Disease: Terminal symphalangism of hands
Terminal symphalangism of hands 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 4 0.100 None 0
CUI: C1857180
Disease: Enlargement of the costochondral junction
Enlargement of the costochondral junction 		phenotype Finding 8 0.100 None 0
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 4 0.100 None 0
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion 		phenotype Finding 5 2 0.100 None 0
CUI: C1861349
Disease: Absent distal interphalangeal creases
Absent distal interphalangeal creases 		phenotype Finding 6 1 0.100 None 0
CUI: C1861310
Disease: Progressive fusion 2nd-5th pip joints
Progressive fusion 2nd-5th pip joints 		phenotype Finding 1 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 0