Phenotype: Abnormal renal vascular morphology (HP:0033835)
Associated genes and diseases:
gene_symbol: LDLR
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: PCSK9
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLRAP1
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: APOB
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG5
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG8
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: YY1AP1
disease_id: OMIM:602531
disease_name: GRANGE SYNDROME
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: STAT1
disease_id: ORPHA:391487
disease_name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: ENPP1
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
gene_symbol: ABCC6
disease_id: OMIM:208000
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
gene_symbol: TMEM127
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: MAX
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: KIF1B
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: RET
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: VHL
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: GEMIN4
disease_id: OMIM:617913
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: IL12B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: HLA-B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: MLX
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: POU3F4
disease_id: ORPHA:1435
disease_name: Xq21 microdeletion syndrome
Ayazi syndrome
Del(X)(q21)
Monosomy Xq21
gene_symbol: ALG9
disease_id: ORPHA:79328
disease_name: ALG9-CDG
CDG syndrome type IL
CDG-IL
CDG1L
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Mannosyltransferase 7-9 deficiency
gene_symbol: PNPLA2
disease_id: ORPHA:565612
disease_name: Primary triglyceride deposit cardiomyovasculopathy
Neutral lipid storage disease with severe cardiovascular involvement
TGCV
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: WDR19
disease_id: OMIM:614377
disease_name: NEPHRONOPHTHISIS 13