LHX1, LIM homeobox 1, 3975

N. diseases: 44; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281138
Disease: CHROMOSOME 17q12 DELETION SYNDROME
CHROMOSOME 17q12 DELETION SYNDROME 		0.300 ChromosomalRearrangement disease ORPHANET Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. 22740494 2012
CUI: C1720887
Disease: Female Urogenital Diseases
Female Urogenital Diseases 		0.300 Biomarker group CTD_human Development of the mammalian female reproductive tract. 16002989 2005
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		0.110 Biomarker disease BEFREE Our study supports the concept of a causative role of LIM1 deficiency in the development of multicystic kidney. 21778788 2011
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		0.110 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.100 Biomarker group HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0041960
Disease: Ureterocele
Ureterocele 		0.100 Biomarker disease HPO
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		0.100 Biomarker phenotype HPO
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4021967
Disease: Pancreatic aplasia
Pancreatic aplasia 		0.100 Biomarker phenotype HPO