IGSF1, immunoglobulin superfamily member 1, 3547

N. diseases: 66; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514622
rs397514622
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
dbSNP: rs397514622
rs397514622
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs762080
rs762080
Entrez Id: 3547;102723546;107985705
Gene Symbol: IGSF1;LOC102723546;LOC107985705
IGSF1;LOC102723546;LOC107985705
CUI: C1314691
Disease:
Age at menarche 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs1556181091
rs1556181091
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122919
rs398122919
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122920
rs398122920
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122921
rs398122921
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C3550963
Disease:
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs762143558
rs762143558
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C0162429
Disease:
Malnutrition 		0.010 GeneticVariation BEFREE As observed with other IGSF1 mutations, p.L773P results in variably penetrant IGSF1 deficiency syndrome. 30086211 2018
dbSNP: rs146462069
rs146462069
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C0001430
Disease:
Adenoma 		0.010 GeneticVariation BEFREE Immunohistochemistry showed increased IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared with a GH-producing adenoma from a patient negative for any IGSF1 variants and with normal control pituitary tissue. 25527509 2015
dbSNP: rs146462069
rs146462069
Entrez Id: 3547
Gene Symbol: IGSF1
IGSF1
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE Immunohistochemistry showed increased IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared with a GH-producing adenoma from a patient negative for any IGSF1 variants and with normal control pituitary tissue. 25527509 2015