LMBR1, limb development membrane protein 1, 64327

N. diseases: 98; N. variants: 11
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: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype Anatomical Abnormality 122 14 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3179508
Disease: Aplasia/Hypoplasia of the thumb
Aplasia/Hypoplasia of the thumb 		phenotype Musculoskeletal Diseases Finding 22 1 0.100 None 0
CUI: C3276742
Disease: Fibular duplication
Fibular duplication 		phenotype Finding 2 0.100 None 0
CUI: C4024196
Disease: Lower limb peromelia
Lower limb peromelia 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4024203
Disease: Aplasia of the phalanges of the hand
Aplasia of the phalanges of the hand 		phenotype Finding 1 0.100 None 0
CUI: C4024338
Disease: Deviation of the hand or of fingers of the hand
Deviation of the hand or of fingers of the hand 		phenotype Musculoskeletal Diseases Anatomical Abnormality 2 0.100 None 0
CUI: C4025122
Disease: Opposable triphalangeal thumb
Opposable triphalangeal thumb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 1 0.100 None 0
CUI: C4025390
Disease: Abnormality of the trapezium
Abnormality of the trapezium 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4025397
Disease: Abnormality of the scaphoid
Abnormality of the scaphoid 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 31 24 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: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly 		disease Congenital Abnormality 3 1 0.100 None 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		disease Musculoskeletal Diseases Anatomical Abnormality 40 3 0.100 None 0
CUI: C3276744
Disease: Absent tibia
Absent tibia 		phenotype Finding 3 0.100 None 0
CUI: C3553754
Disease: Absent toe
Absent toe 		disease Congenital Abnormality 8 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C4021100
Disease: Increased fibular diameter
Increased fibular diameter 		phenotype Finding 5 0.100 None 0
CUI: C4021232
Disease: Absent metatarsal bone
Absent metatarsal bone 		phenotype Finding 1 0.100 None 0
CUI: C4021257
Disease: Aplasia of the tarsal bones
Aplasia of the tarsal bones 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4021427
Disease: Complete duplication of distal phalanx of the thumb
Complete duplication of distal phalanx of the thumb 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 0.100 None 0