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: C1861357
Disease: 1-5 finger complete cutaneous syndactyly
1-5 finger complete cutaneous syndactyly 		phenotype Finding 1 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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease Congenital Abnormality 85 16 0.100 None 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals 		phenotype Finding 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: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 31 24 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: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C4025397
Disease: Abnormality of the scaphoid
Abnormality of the scaphoid 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4025390
Disease: Abnormality of the trapezium
Abnormality of the trapezium 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0426868
Disease: Absence of hand
Absence of hand 		phenotype Finding 18 0.100 None 0
CUI: C1861099
Disease: Absence of tibia with polydactyly
Absence of tibia with polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0728895
Disease: Absent finger
Absent finger 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.010 None 1.000 1 2001 2001
CUI: C1408532
Disease: Absent forearm
Absent forearm 		phenotype Finding 1 0.100 None 0
CUI: C4021232
Disease: Absent metatarsal bone
Absent metatarsal bone 		phenotype Finding 1 0.100 None 0
CUI: C1405984
Disease: Absent radius
Absent radius 		disease Congenital Abnormality 24 1 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: C0265559
Disease: Acheiropodia
Acheiropodia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.820 strong 1.000 3 2001 2016
CUI: C1846473
Disease: Aplasia of metacarpal bones
Aplasia of metacarpal bones 		phenotype Finding 3 0.100 None 0
CUI: C1838610
Disease: Aplasia of the 1st metacarpal
Aplasia of the 1st metacarpal 		phenotype Finding 5 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: C4021257
Disease: Aplasia of the tarsal bones
Aplasia of the tarsal bones 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C2678397
Disease: Aplasia of the ulna
Aplasia of the ulna 		phenotype Congenital Abnormality 4 0.100 None 0