Phenotype: Enlarged kidney (HP:0000105)
Associated genes and diseases:
gene_symbol: PIK3CA
disease_id: ORPHA:276280
disease_name: Hemihyperplasia-multiple lipomatosis syndrome
HHML
gene_symbol: WT1
disease_id: OMIM:608978
disease_name: MEACHAM SYNDROME
gene_symbol: WT1
disease_id: OMIM:194080
disease_name: DENYS-DRASH SYNDROME
gene_symbol: DYNC2H1
disease_id: OMIM:613091
disease_name: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: PKHD1
disease_id: OMIM:263200
disease_name: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: PKHD1
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
gene_symbol: CD81
disease_id: OMIM:613496
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 6
gene_symbol: NEK8
disease_id: OMIM:620903
disease_name: OMIM:620903
gene_symbol: NEK8
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: NEK8
disease_id: OMIM:615415
disease_name: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2
gene_symbol: NEK8
disease_id: ORPHA:294415
disease_name: Renal-hepatic-pancreatic dysplasia
Ivemark II syndrome
Renohepaticopancreatic dysplasia
gene_symbol: DZIP1L
disease_id: OMIM:617610
disease_name: POLYCYSTIC KIDNEY DISEASE 5
gene_symbol: DZIP1L
disease_id: ORPHA:731
disease_name: Autosomal recessive polycystic kidney disease
AR-PKD
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: INSR
disease_id: OMIM:246200
disease_name: DONOHUE SYNDROME
gene_symbol: SLC37A4
disease_id: OMIM:232220
disease_name: GLYCOGEN STORAGE DISEASE Ib
gene_symbol: SLC37A4
disease_id: ORPHA:79259
disease_name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
G6P deficiency type Ib
G6P translocase deficiency
G6PT deficiency
GSD due to G6P deficiency type 1b
GSD due to G6P deficiency type Ib
GSD due to G6PT deficiency
GSD type 1 non a
GSD type 1b
GSD type Ib
GSDIb
Glycogen storage disease due to G6P deficiency type Ib
Glycogen storage disease type 1b
Glycogen storage disease type Ib
Glycogenosis due to glucose-6-phosphatase deficiency type 1b
Glycogenosis due to glucose-6-phosphatase transport defect type Ib
Glycogenosis type 1b
Glycogenosis type Ib
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
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: ALG9
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: DICER1
disease_id: OMIM:618272
disease_name: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR
gene_symbol: ZIC3
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: FANCB
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: NPHP3
disease_id: OMIM:208540
disease_name: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
gene_symbol: NPHP3
disease_id: ORPHA:294415
disease_name: Renal-hepatic-pancreatic dysplasia
Ivemark II syndrome
Renohepaticopancreatic dysplasia
gene_symbol: NPHP3
disease_id: OMIM:604387
disease_name: NEPHRONOPHTHISIS 3
gene_symbol: VPS45
disease_id: OMIM:615285
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
gene_symbol: SAA1
disease_id: ORPHA:85445
disease_name: AA amyloidosis
Inflammatory amyloidosis
Reactive amyloidosis
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
gene_symbol: VPS33A
disease_id: ORPHA:505248
disease_name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Mucopolysaccharidosis-like plus disease
gene_symbol: CILK1
disease_id: OMIM:612651
disease_name: ENDOCRINE-CEREBROOSTEODYSPLASIA
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: MYRF
disease_id: OMIM:618280
disease_name: CARDIAC-UROGENITAL SYNDROME
gene_symbol: DNAJB11
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: GANAB
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: PKD1
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: PKD2
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: ALG5
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: IFT140
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: BICC1
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: CDKN1C
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: IGF2
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: H19
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1OT1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: G6PC1
disease_id: OMIM:232200
disease_name: GLYCOGEN STORAGE DISEASE Ia
gene_symbol: FAH
disease_id: OMIM:276700
disease_name: TYROSINEMIA, TYPE I
gene_symbol: ANKS6
disease_id: OMIM:615382
disease_name: NEPHRONOPHTHISIS 16
gene_symbol: TULP3
disease_id: OMIM:619902
disease_name: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
gene_symbol: SLC29A3
disease_id: ORPHA:168569
disease_name: H syndrome
gene_symbol: TCTN2
disease_id: OMIM:613885
disease_name: MECKEL SYNDROME, TYPE 8
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: INVS
disease_id: OMIM:602088
disease_name: NEPHRONOPHTHISIS 2
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS