Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C3150086
Disease: Aplasia/Hypoplasia of the nipples
Aplasia/Hypoplasia of the nipples 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		disease 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C4025320
Disease: Craniofacial asymmetry
Craniofacial asymmetry 		disease 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		disease 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		disease 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C1969176
Disease: Hypoplastic pubic rami
Hypoplastic pubic rami 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		phenotype 0.100 None 0 0