Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated genes and diseases:
gene_symbol: PRPF31
disease_id: OMIM:600138
disease_name: RETINITIS PIGMENTOSA 11
gene_symbol: SLC12A5
disease_id: OMIM:616685
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
gene_symbol: EYA1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: EYA1
disease_id: OMIM:602588
disease_name: BRANCHIOOTIC SYNDROME 1
gene_symbol: SIX1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: SDHB
disease_id: OMIM:115310
disease_name: PARAGANGLIOMAS 4
gene_symbol: PROKR2
disease_id: OMIM:244200
disease_name: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA
gene_symbol: KLF13
disease_id: OMIM:612001
disease_name: CHROMOSOME 15q13.3 DELETION SYNDROME
gene_symbol: CHRNA7
disease_id: OMIM:612001
disease_name: CHROMOSOME 15q13.3 DELETION SYNDROME
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
gene_symbol: TRPV4
disease_id: OMIM:600175
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII
gene_symbol: TRPV4
disease_id: OMIM:181405
disease_name: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY
gene_symbol: FGFR1
disease_id: OMIM:147950
disease_name: HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA
gene_symbol: SLC2A1
disease_id: OMIM:612126
disease_name: GLUT1 DEFICIENCY SYNDROME 2
gene_symbol: SLC2A1
disease_id: OMIM:614847
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
gene_symbol: CACNB4
disease_id: OMIM:613855
disease_name: EPISODIC ATAXIA, TYPE 5
gene_symbol: VMA21
disease_id: OMIM:310440
disease_name: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY
gene_symbol: GABRG2
disease_id: OMIM:607681
disease_name: FEBRILE SEIZURES, FAMILIAL, 8
gene_symbol: CACNA1A
disease_id: OMIM:108500
disease_name: EPISODIC ATAXIA, TYPE 2
gene_symbol: ATP1A3
disease_id: OMIM:128235
disease_name: DYSTONIA 12
gene_symbol: PROK2
disease_id: OMIM:610628
disease_name: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
gene_symbol: DLST
disease_id: OMIM:618475
disease_name: PARAGANGLIOMAS 7
gene_symbol: ATXN10
disease_id: OMIM:603516
disease_name: SPINOCEREBELLAR ATAXIA 10
gene_symbol: RORB
disease_id: OMIM:618357
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15
gene_symbol: EPHB4
disease_id: OMIM:618196
disease_name: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
gene_symbol: SMARCB1
disease_id: OMIM:162091
disease_name: SCHWANNOMATOSIS 1
gene_symbol: FLCN
disease_id: OMIM:173600
disease_name: PNEUMOTHORAX, PRIMARY SPONTANEOUS
gene_symbol: INAVA
disease_id: OMIM:618077
disease_name: INFLAMMATORY BOWEL DISEASE 29
gene_symbol: CDH23
disease_id: OMIM:617540
disease_name: PITUITARY ADENOMA 5, MULTIPLE TYPES
gene_symbol: KIF1B
disease_id: OMIM:256700
disease_name: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
gene_symbol: CHRNA2
disease_id: OMIM:610353
disease_name: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4
gene_symbol: TENM4
disease_id: OMIM:616736
disease_name: TREMOR, HEREDITARY ESSENTIAL, 5
gene_symbol: LRSAM1
disease_id: OMIM:614436
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
gene_symbol: CFC1
disease_id: OMIM:605376
disease_name: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
gene_symbol: CRELD1
disease_id: OMIM:606217
disease_name: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
gene_symbol: WNT10B
disease_id: OMIM:225300
disease_name: SPLIT-HAND/FOOT MALFORMATION 6
gene_symbol: PDCD10
disease_id: OMIM:116860
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS
gene_symbol: KRIT1
disease_id: OMIM:116860
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS
gene_symbol: CCM2
disease_id: OMIM:116860
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS
gene_symbol: CHRNA4
disease_id: OMIM:600513
disease_name: EPILEPSY, NOCTURNAL FRONTAL LOBE, 1
gene_symbol: HCN1
disease_id: OMIM:618482
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10
gene_symbol: CTLA4
disease_id: OMIM:616100
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V
gene_symbol: NRL
disease_id: OMIM:613750
disease_name: RETINITIS PIGMENTOSA 27
gene_symbol: GABRB3
disease_id: OMIM:612269
disease_name: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
gene_symbol: PRKCG
disease_id: OMIM:605361
disease_name: SPINOCEREBELLAR ATAXIA 14
gene_symbol: DSTYK
disease_id: OMIM:610805
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1
gene_symbol: CLCN2
disease_id: OMIM:605635
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE II
gene_symbol: SHH
disease_id: OMIM:142945
disease_name: HOLOPROSENCEPHALY 3
gene_symbol: SHH
disease_id: OMIM:611638
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5
gene_symbol: DCX
disease_id: OMIM:300067
disease_name: LISSENCEPHALY, X-LINKED, 1
gene_symbol: GJC2
disease_id: OMIM:613480
disease_name: LYMPHATIC MALFORMATION 3
gene_symbol: TGFBR1
disease_id: OMIM:132800
disease_name: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
gene_symbol: KMT2B
disease_id: OMIM:617284
disease_name: DYSTONIA 28, CHILDHOOD-ONSET
gene_symbol: BMPR2
disease_id: OMIM:178600
disease_name: PULMONARY HYPERTENSION, PRIMARY, 1
gene_symbol: DDX41
disease_id: OMIM:616871
disease_name: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
gene_symbol: GJB1
disease_id: OMIM:302800
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
gene_symbol: FMR1
disease_id: OMIM:300624
disease_name: FRAGILE X SYNDROME
gene_symbol: TLR3
disease_id: OMIM:613002
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2
gene_symbol: IKZF1
disease_id: OMIM:616873
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 13
gene_symbol: TICAM1
disease_id: OMIM:614850
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6
gene_symbol: OTULIN
disease_id: OMIM:619986
disease_name: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION
gene_symbol: UCHL1
disease_id: OMIM:613643
disease_name: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
gene_symbol: PRRT2
disease_id: OMIM:605751
disease_name: SEIZURES, BENIGN FAMILIAL INFANTILE, 2
gene_symbol: PRRT2
disease_id: OMIM:128200
disease_name: EPISODIC KINESIGENIC DYSKINESIA 1
gene_symbol: MET
disease_id: OMIM:605074
disease_name: RENAL CELL CARCINOMA, PAPILLARY, 1
gene_symbol: PRCC
disease_id: OMIM:605074
disease_name: RENAL CELL CARCINOMA, PAPILLARY, 1
gene_symbol: ATP1A2
disease_id: OMIM:602481
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
gene_symbol: PRPF8
disease_id: OMIM:600059
disease_name: RETINITIS PIGMENTOSA 13
gene_symbol: TTN
disease_id: OMIM:600334
disease_name: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
gene_symbol: PKD2
disease_id: OMIM:613095
disease_name: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: VWF
disease_id: OMIM:193400
disease_name: VON WILLEBRAND DISEASE, TYPE 1
gene_symbol: GPR161
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: CTNNB1
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: SUFU
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: SUFU
disease_id: OMIM:607174
disease_name: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: ELP1
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: PTCH2
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: BRCA2
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: GRIN2A
disease_id: OMIM:245570
disease_name: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
gene_symbol: ANO3
disease_id: OMIM:615034
disease_name: DYSTONIA 24
gene_symbol: CACNA1S
disease_id: OMIM:170400
disease_name: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
gene_symbol: SCN4A
disease_id: OMIM:170400
disease_name: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
gene_symbol: PAX2
disease_id: OMIM:616002
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
gene_symbol: LZTR1
disease_id: OMIM:615670
disease_name: SCHWANNOMATOSIS 2
gene_symbol: TERT
disease_id: OMIM:614742
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
gene_symbol: TM4SF20
disease_id: OMIM:615432
disease_name: SPECIFIC LANGUAGE IMPAIRMENT 5
gene_symbol: MFN2
disease_id: OMIM:609260
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
gene_symbol: USP48
disease_id: OMIM:620227
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 85
gene_symbol: TERC
disease_id: OMIM:614743
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: RAD51
disease_id: OMIM:614508
disease_name: MIRROR MOVEMENTS 2
gene_symbol: RAD51
disease_id: OMIM:157600
disease_name: MIRROR MOVEMENTS 1
gene_symbol: ERBB3
disease_id: OMIM:133180
disease_name: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: OPA1
disease_id: OMIM:165500
disease_name: OPTIC ATROPHY 1
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: GLI2
disease_id: OMIM:615849
disease_name: CULLER-JONES SYNDROME
gene_symbol: NRIP1
disease_id: OMIM:618270
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3
gene_symbol: ACTN4
disease_id: OMIM:603278
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
gene_symbol: RTEL1
disease_id: OMIM:616373
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
gene_symbol: PARN
disease_id: OMIM:616371
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
gene_symbol: MSH6
disease_id: OMIM:614350
disease_name: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
gene_symbol: THAP1
disease_id: OMIM:602629
disease_name: DYSTONIA 6, TORSION
gene_symbol: FOXE3
disease_id: OMIM:617349
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
gene_symbol: IFIH1
disease_id: OMIM:615846
disease_name: AICARDI-GOUTIERES SYNDROME 7
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: NLRP12
disease_id: OMIM:611762
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2
gene_symbol: TBK1
disease_id: OMIM:617900
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
gene_symbol: DEPDC5
disease_id: OMIM:604364
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
gene_symbol: RBM12
disease_id: OMIM:617629
disease_name: SCHIZOPHRENIA 19
gene_symbol: ELOVL4
disease_id: OMIM:133190
disease_name: SPINOCEREBELLAR ATAXIA 34
gene_symbol: POT1
disease_id: OMIM:615848
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10
gene_symbol: DLX5
disease_id: OMIM:183600
disease_name: SPLIT-HAND/FOOT MALFORMATION 1
gene_symbol: COL4A2
disease_id: OMIM:614483
disease_name: BRAIN SMALL VESSEL DISEASE 2
gene_symbol: NPRL3
disease_id: OMIM:617118
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
gene_symbol: LRRK2
disease_id: OMIM:607060
disease_name: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
gene_symbol: LRP5
disease_id: OMIM:617875
disease_name: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS
gene_symbol: NPRL2
disease_id: OMIM:617116
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2
gene_symbol: GATA5
disease_id: OMIM:617912
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
gene_symbol: TMEM151A
disease_id: OMIM:620245
disease_name: EPISODIC KINESIGENIC DYSKINESIA 3
gene_symbol: ATL1
disease_id: OMIM:182600
disease_name: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
gene_symbol: MNX1
disease_id: OMIM:176450
disease_name: CURRARINO SYNDROME
gene_symbol: SCN1B
disease_id: OMIM:604233
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
gene_symbol: CPOX
disease_id: OMIM:121300
disease_name: COPROPORPHYRIA, HEREDITARY
gene_symbol: SMARCC1
disease_id: OMIM:620241
disease_name: HYDROCEPHALUS, CONGENITAL, 5, SUSCEPTIBILITY TO
gene_symbol: SIX3
disease_id: OMIM:157170
disease_name: HOLOPROSENCEPHALY 2
gene_symbol: RANBP2
disease_id: OMIM:608033
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
gene_symbol: NR5A1
disease_id: OMIM:617480
disease_name: 46,XX SEX REVERSAL 4
gene_symbol: NTN1
disease_id: OMIM:157600
disease_name: MIRROR MOVEMENTS 1
gene_symbol: DCC
disease_id: OMIM:157600
disease_name: MIRROR MOVEMENTS 1
gene_symbol: PITX1
disease_id: OMIM:119800
disease_name: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY
gene_symbol: SMAD9
disease_id: OMIM:615342
disease_name: PULMONARY HYPERTENSION, PRIMARY, 2
gene_symbol: KIF11
disease_id: OMIM:152950
disease_name: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
gene_symbol: CAV1
disease_id: OMIM:615343
disease_name: PULMONARY HYPERTENSION, PRIMARY, 3
gene_symbol: STAT1
disease_id: OMIM:614892
disease_name: IMMUNODEFICIENCY 31A
gene_symbol: SGCE
disease_id: OMIM:159900
disease_name: DYSTONIA 11, MYOCLONIC
gene_symbol: RELN
disease_id: OMIM:616436
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
gene_symbol: KIF5A
disease_id: OMIM:617921
disease_name: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: FH
disease_id: OMIM:150800
disease_name: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
gene_symbol: CILK1
disease_id: OMIM:617924
disease_name: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10
gene_symbol: FGF23
disease_id: OMIM:193100
disease_name: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
gene_symbol: MT-ND1
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND2
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND4
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-CO3
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-CYB
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ATP6
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND5
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND6
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND4L
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: GREB1L
disease_id: OMIM:617805
disease_name: RENAL HYPODYSPLASIA/APLASIA 3
gene_symbol: TOR1A
disease_id: OMIM:128100
disease_name: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
gene_symbol: HNRNPDL
disease_id: OMIM:609115
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3
gene_symbol: RPS29
disease_id: OMIM:615909
disease_name: DIAMOND-BLACKFAN ANEMIA 13
gene_symbol: SMARCE1
disease_id: OMIM:607174
disease_name: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: PTEN
disease_id: OMIM:607174
disease_name: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: MN1
disease_id: OMIM:607174
disease_name: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: NF2
disease_id: OMIM:607174
disease_name: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: PDGFB
disease_id: OMIM:607174
disease_name: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: SMAD6
disease_id: OMIM:614823
disease_name: AORTIC VALVE DISEASE 2