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: C1861098
Disease: Tibia, Hypoplasia of, with Polydactyly
Tibia, Hypoplasia of, with Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 2 0.400 strong 1.000 1 2 2001 2001
CUI: C4707180
Disease: Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 2000 2000
CUI: C0265573
Disease: Phocomelia of upper limb
Phocomelia of upper limb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 0.100 None 0
CUI: C1408532
Disease: Absent forearm
Absent forearm 		phenotype Finding 1 0.100 None 0
CUI: C1851101
Disease: Laurin-Sandrow Syndrome, Segmental
Laurin-Sandrow Syndrome, Segmental 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 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: C1861357
Disease: 1-5 finger complete cutaneous syndactyly
1-5 finger complete cutaneous syndactyly 		phenotype Finding 1 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: 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: 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: 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: C0265581
Disease: Longitudinal deficiency of radius
Longitudinal deficiency of radius 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.300 None 1.000 1 2015 2015
CUI: C0545617
Disease: Supernumerary metacarpal bone
Supernumerary metacarpal bone 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.100 None 0
CUI: C3276742
Disease: Fibular duplication
Fibular duplication 		phenotype Finding 2 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: 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: C1861355
Disease: Syndactyly, Type IV
Syndactyly, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 0.610 strong 1.000 3 2000 2014
CUI: C0265551
Disease: Dimelia
Dimelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 0.100 None 0
CUI: C1836219
Disease: Carpal bone aplasia
Carpal bone aplasia 		phenotype Finding 3 0.100 None 0
CUI: C1846473
Disease: Aplasia of metacarpal bones
Aplasia of metacarpal bones 		phenotype Finding 3 0.100 None 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals 		phenotype Finding 3 0.100 None 0
CUI: C3276744
Disease: Absent tibia
Absent tibia 		phenotype Finding 3 0.100 None 0