Source: ALL

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: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome
disease 0.600 None 0.944 18 0 1999 2019
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 0.900 10 0 2001 2019
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.400 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures
phenotype 0.320 None 1.000 3 0 2004 2015
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.320 None 1.000 2 0 2004 2019
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0022333
Disease: Jacksonian Seizure
Jacksonian Seizure
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion
phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0751110
Disease: Single Seizure
Single Seizure
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures
phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia
phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone
phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0796117
Disease: Pitt-Rogers-Danks Syndrome
Pitt-Rogers-Danks Syndrome
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures
phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory
phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0427201
Disease: Floppy Muscles
Floppy Muscles
phenotype 0.300 None 1.000 1 0 2004 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures
phenotype 0.300 None 1.000 1 0 2004 2004