IGSF1, immunoglobulin superfamily member 1, 3547

N. diseases: 66; N. variants: 8
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 CausalMutation disease CLINVAR
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 Biomarker disease CTD_human
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 Biomarker disease GENOMICS_ENGLAND Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1. 26302767 2015
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 GeneticVariation disease UNIPROT Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 GermlineCausalMutation disease ORPHANET Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 Biomarker disease MGD Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 23143598 2012
CUI: C3550963
Disease: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT 		0.900 Biomarker disease GENOMICS_ENGLAND The IGSF1 deficiency syndrome: characteristics of male and female patients. 24108313 2013