TaoMedAI/RareMedData huggingface dataset:
Phenotype: Lip fissure (HP:0031250)
Associated genes and diseases:
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: SLC19A1
disease_id: OMIM:620603
disease_name: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE
Phenotype: Abnormal subclavian artery morphology (HP:0031251)
Associated genes and diseases:
gene_symbol: PLD1
disease_id: OMIM:212093
disease_name: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL
gene_symbol: TBX1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: NKX2-6
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: PLXND1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: PLXND1
disease_id: OMIM:620294
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: ACTA2
disease_id: OMIM:613834
disease_name: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
Phenotype: Dilated left subclavian artery (HP:0031252)
Associated genes and diseases:
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: ACTA2
disease_id: OMIM:613834
disease_name: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
Phenotype: Delirium (HP:0031258)
Associated genes and diseases:
gene_symbol: OTC
disease_id: ORPHA:664
disease_name: Ornithine transcarbamylase deficiency
OCT deficiency
OTC deficiency
Ornithine carbamoyltransferase deficiency
gene_symbol: FIG4
disease_id: ORPHA:208441
disease_name: Bilateral parasagittal parieto-occipital polymicrogyria
gene_symbol: FIG4
disease_id: OMIM:612691
disease_name: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
gene_symbol: ALAD
disease_id: ORPHA:100924
disease_name: Porphyria due to ALA dehydratase deficiency
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
gene_symbol: NAGS
disease_id: ORPHA:927
disease_name: Hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS deficiency
gene_symbol: SLC25A13
disease_id: ORPHA:247585
disease_name: Citrullinemia type II
Adult-onset citrin deficiency
Adult-onset citrullinemia type 2
Adult-onset citrullinemia type II
CTLN2
Citrullinemia type 2
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: DNMT1
disease_id: OMIM:614116
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IE
gene_symbol: RYR1
disease_id: ORPHA:466650
disease_name: Exercise-induced malignant hyperthermia
Exertional heat stroke
gene_symbol: MT-TE
disease_id: ORPHA:2596
disease_name: Myopathy and diabetes mellitus
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
Phenotype: Reduced muscle myoadenylate deaminase activity (HP:0034529)
Associated genes and diseases:
gene_symbol: AMPD1
disease_id: OMIM:615511
disease_name: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
Phenotype: Beau's lines (HP:0041093)
Associated genes and diseases:
gene_symbol: PEX1
disease_id: OMIM:234580
disease_name: HEIMLER SYNDROME 1
gene_symbol: PEX6
disease_id: OMIM:616617
disease_name: HEIMLER SYNDROME 2
Phenotype: Bent long bone (HP:0034530)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:614592
disease_name: BENT BONE DYSPLASIA SYNDROME
Phenotype: Increased myocardial glycogen content (HP:0034532)
Associated genes and diseases:
gene_symbol: KLHL24
disease_id: OMIM:620236
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
Phenotype: Triangular tibia (HP:0031260)
Associated genes and diseases:
gene_symbol: EN1
disease_id: OMIM:619218
disease_name: ENDOVE SYNDROME, LIMB-BRAIN TYPE
Phenotype: Bladder polyp (HP:0031261)
Associated genes and diseases:
gene_symbol: STK11
disease_id: OMIM:175200
disease_name: PEUTZ-JEGHERS SYNDROME
Phenotype: Abnormal Bowman capsule morphology (HP:0031264)
Associated genes and diseases:
gene_symbol: EMP2
disease_id: OMIM:615861
disease_name: NEPHROTIC SYNDROME, TYPE 10
gene_symbol: ZAP70
disease_id: OMIM:617006
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
gene_symbol: DGKE
disease_id: OMIM:615008
disease_name: NEPHROTIC SYNDROME, TYPE 7
gene_symbol: KIRREL1
disease_id: OMIM:619201
disease_name: NEPHROTIC SYNDROME, TYPE 23
gene_symbol: DAAM2
disease_id: OMIM:619263
disease_name: NEPHROTIC SYNDROME, TYPE 24
gene_symbol: YRDC
disease_id: OMIM:619609
disease_name: GALLOWAY-MOWAT SYNDROME 10
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: NOS1AP
disease_id: OMIM:619155
disease_name: NEPHROTIC SYNDROME, TYPE 22
gene_symbol: AVIL
disease_id: OMIM:618594
disease_name: NEPHROTIC SYNDROME, TYPE 21
gene_symbol: SLC41A1
disease_id: OMIM:619468
disease_name: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2
Phenotype: Abnormal glomerular visceral epithelial cell morphology (HP:0031265)
Associated genes and diseases:
gene_symbol: EMP2
disease_id: OMIM:615861
disease_name: NEPHROTIC SYNDROME, TYPE 10
gene_symbol: ZAP70
disease_id: OMIM:617006
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
gene_symbol: DGKE
disease_id: OMIM:615008
disease_name: NEPHROTIC SYNDROME, TYPE 7
gene_symbol: KIRREL1
disease_id: OMIM:619201
disease_name: NEPHROTIC SYNDROME, TYPE 23
gene_symbol: DAAM2
disease_id: OMIM:619263
disease_name: NEPHROTIC SYNDROME, TYPE 24
gene_symbol: YRDC
disease_id: OMIM:619609
disease_name: GALLOWAY-MOWAT SYNDROME 10
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: NOS1AP
disease_id: OMIM:619155
disease_name: NEPHROTIC SYNDROME, TYPE 22
gene_symbol: AVIL
disease_id: OMIM:618594
disease_name: NEPHROTIC SYNDROME, TYPE 21
Phenotype: Podocyte foot process effacement (HP:0031266)
Associated genes and diseases:
gene_symbol: EMP2
disease_id: OMIM:615861
disease_name: NEPHROTIC SYNDROME, TYPE 10
gene_symbol: ZAP70
disease_id: OMIM:617006
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
gene_symbol: DGKE
disease_id: OMIM:615008
disease_name: NEPHROTIC SYNDROME, TYPE 7
gene_symbol: KIRREL1
disease_id: OMIM:619201
disease_name: NEPHROTIC SYNDROME, TYPE 23
gene_symbol: DAAM2
disease_id: OMIM:619263
disease_name: NEPHROTIC SYNDROME, TYPE 24
gene_symbol: YRDC
disease_id: OMIM:619609
disease_name: GALLOWAY-MOWAT SYNDROME 10
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: NOS1AP
disease_id: OMIM:619155
disease_name: NEPHROTIC SYNDROME, TYPE 22
gene_symbol: AVIL
disease_id: OMIM:618594
disease_name: NEPHROTIC SYNDROME, TYPE 21
Phenotype: Abnormal CD69 upregulation upon TCR activation (HP:0031267)
Associated genes and diseases:
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
Phenotype: Decreased CD69 upregulation upon TCR activation (HP:0031268)
Associated genes and diseases:
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
Phenotype: Portal vein hypoplasia (HP:0034548)
Associated genes and diseases:
gene_symbol: KIF20A
disease_id: OMIM:619433
disease_name: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6
Phenotype: Shock (HP:0031273)
Associated genes and diseases:
gene_symbol: RPL3L
disease_id: OMIM:619371
disease_name: CARDIOMYOPATHY, DILATED, 2D
gene_symbol: ATRX
disease_id: ORPHA:100075
disease_name: Neuroendocrine tumor of stomach
GNET
Gastric NET
Gastric neuroendocrine tumor
NET of stomach
gene_symbol: MYL2
disease_id: OMIM:619424
disease_name: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY
gene_symbol: LMOD2
disease_id: OMIM:619897
disease_name: CARDIOMYOPATHY, DILATED, 2G
gene_symbol: ABCC6
disease_id: OMIM:614473
disease_name: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
gene_symbol: SDHA
disease_id: OMIM:613642
disease_name: CARDIOMYOPATHY, DILATED, 1GG
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
gene_symbol: NAA10
disease_id: ORPHA:276432
disease_name: Ogden syndrome
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
gene_symbol: TRDN
disease_id: OMIM:615441
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS
gene_symbol: SCNN1G
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1A
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1B
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: DSP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: JUP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
Phenotype: Hypovolemic shock (HP:0031274)
Associated genes and diseases:
gene_symbol: SCNN1G
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1A
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1B
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: DSP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: JUP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
Phenotype: Abnormal response to gonadotropin-releasing hormone stimulation test (HP:0031279)
Associated genes and diseases:
gene_symbol: NHLH2
disease_id: OMIM:619755
disease_name: HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA
gene_symbol: FEZF1
disease_id: OMIM:616030
disease_name: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
Phenotype: Abnormal peroxisomal morphology (HP:0034552)
Associated genes and diseases:
gene_symbol: PEX6
disease_id: OMIM:614862
disease_name: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
Phenotype: Aortopulmonary window (HP:0011604)
Associated genes and diseases:
gene_symbol: ALDH1A2
disease_id: OMIM:620025
disease_name: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS
Phenotype: Malalignment of the great toenail (HP:0031282)
Associated genes and diseases:
gene_symbol: KRT14
disease_id: ORPHA:69087
disease_name: Naegeli-Franceschetti-Jadassohn syndrome
NFJ syndrome
Naegeli syndrome
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
Phenotype: Abnormal perifollicular morphology (HP:0031285)
Associated genes and diseases:
gene_symbol: KRT86
disease_id: OMIM:158000
disease_name: MONILETHRIX
gene_symbol: HLA-DRA
disease_id: ORPHA:505
disease_name: Graham Little-Piccardi-Lassueur syndrome
Graham Little syndrome
Piccardi-Lassueur-Little syndrome
gene_symbol: MBTPS2
disease_id: OMIM:308800
disease_name: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED
gene_symbol: LRP1
disease_id: OMIM:604093
disease_name: KERATOSIS PILARIS ATROPHICANS
Phenotype: Seborrheic keratosis (HP:0031287)
Associated genes and diseases:
gene_symbol: ERCC4
disease_id: OMIM:278760
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F
gene_symbol: PIK3CA
disease_id: ORPHA:140944
disease_name: CLOVES syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
gene_symbol: PIK3CA
disease_id: OMIM:182000
disease_name: KERATOSIS, SEBORRHEIC
gene_symbol: NTHL1
disease_id: ORPHA:454840
disease_name: NTHL1-related attenuated familial adenomatous polyposis
NTHL1-related AFAP
NTHL1-related attenuated FAP
Phenotype: Cobblestone-like hyperkeratosis (HP:0031288)
Associated genes and diseases:
gene_symbol: GJB6
disease_id: ORPHA:189
disease_name: Hidrotic ectodermal dysplasia
Clouston syndrome
gene_symbol: KRT10
disease_id: OMIM:620150
disease_name: EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT
gene_symbol: KRT10
disease_id: OMIM:620707
disease_name: EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE
gene_symbol: GJB2
disease_id: OMIM:602540
disease_name: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
gene_symbol: ATP2A2
disease_id: ORPHA:218
disease_name: Darier disease
Darier-White disease
Keratosis follicularis
gene_symbol: EPHB4
disease_id: ORPHA:90186
disease_name: Meige disease
Hereditary lymphedema type II
Meige lymphedema
Phenotype: White papule (HP:0031289)
Associated genes and diseases:
gene_symbol: CFTR
disease_id: ORPHA:498359
disease_name: Aquagenic palmoplantar keratoderma
Aquagenic keratoderma
Aquagenic syringeal acrokeratoderma
Aquagenic wrinkling of the palms
Transient reactive papulotranslucent acrokeratoderma
Phenotype: Absence of peroxisomes (HP:0034553)
Associated genes and diseases:
gene_symbol: PEX6
disease_id: OMIM:614862
disease_name: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
Phenotype: Rhabdoid tumor (HP:0034557)
Associated genes and diseases:
gene_symbol: SMARCA4
disease_id: OMIM:613325
disease_name: RHABDOID TUMOR PREDISPOSITION SYNDROME 2
Phenotype: Tuberous xanthoma (HP:0031290)
Associated genes and diseases:
gene_symbol: CYP27A1
disease_id: OMIM:213700
disease_name: CEREBROTENDINOUS XANTHOMATOSIS
gene_symbol: APOE
disease_id: ORPHA:412
disease_name: Dysbetalipoproteinemia
Broad-beta disease
Familial dyslipidemia type 3
HLP type 3
Hyperlipidemia type 3
Hyperlipoproteinemia type 3
Remnant hyperlipoproteinemia
gene_symbol: ABCG8
disease_id: OMIM:210250
disease_name: SITOSTEROLEMIA 1
gene_symbol: LMF1
disease_id: OMIM:246650
disease_name: LIPASE DEFICIENCY, COMBINED
Phenotype: Ichthyosis follicularis (HP:0031291)
Associated genes and diseases:
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: SREBF1
disease_id: OMIM:619016
disease_name: IFAP SYNDROME 2
Phenotype: Digital pitting scar (HP:0031293)
Associated genes and diseases:
gene_symbol: POGLUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: POFUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: PSENEN
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
Phenotype: Left atrial enlargement (HP:0031295)
Associated genes and diseases:
gene_symbol: PLD1
disease_id: OMIM:212093
disease_name: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL
gene_symbol: TNNI3
disease_id: OMIM:115210
disease_name: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1
gene_symbol: TNNI3
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: FHOD3
disease_id: OMIM:619402
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28
gene_symbol: MYL2
disease_id: OMIM:619424
disease_name: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY
gene_symbol: LMOD2
disease_id: OMIM:619897
disease_name: CARDIOMYOPATHY, DILATED, 2G
gene_symbol: SGO1
disease_id: OMIM:616201
disease_name: CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA
gene_symbol: SCN5A
disease_id: OMIM:614022
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 10
gene_symbol: FLNC
disease_id: OMIM:617047
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
gene_symbol: FLNC
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: NUP155
disease_id: OMIM:615770
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 15
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: SCN1B
disease_id: OMIM:615377
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 13
gene_symbol: NPPA
disease_id: OMIM:612201
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 6
gene_symbol: BANF1
disease_id: OMIM:614008
disease_name: NESTOR-GUILLERMO PROGERIA SYNDROME
gene_symbol: CORIN
disease_id: OMIM:620734
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL
gene_symbol: GYS1
disease_id: OMIM:611556
disease_name: GLYCOGEN STORAGE DISEASE 0, MUSCLE
gene_symbol: MYPN
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: TNNT2
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: KIF20A
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: MYL3
disease_id: OMIM:608751
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: TLL1
disease_id: ORPHA:99106
disease_name: Atrial septal defect, ostium primum type
ASD, ostium primum type
gene_symbol: MYH7
disease_id: OMIM:160500
disease_name: MYOPATHY, DISTAL, 1
Phenotype: Unroofed coronary sinus (HP:0031297)
Associated genes and diseases:
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
Phenotype: Coronary sinus enlargement (HP:0031298)
Associated genes and diseases:
gene_symbol: MYRF
disease_id: OMIM:618280
disease_name: CARDIAC-UROGENITAL SYNDROME
gene_symbol: SMG8
disease_id: OMIM:619268
disease_name: ALZAHRANI-KUWAHARA SYNDROME
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
Phenotype: Aplasia of posterior communicating artery (HP:0034566)
Associated genes and diseases:
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
Phenotype: Optic pit (HP:0034567)
Associated genes and diseases:
gene_symbol: RBP4
disease_id: OMIM:616428
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
Phenotype: Pigment incontinence (HP:0034572)
Associated genes and diseases:
gene_symbol: LTV1
disease_id: OMIM:620199
disease_name: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES