TaoMedAI/RareMedData huggingface dataset:
Gene: KCNMA1
Disease: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome; Liang-Wang syndrome (ORPHA:664438)
Association type: UNKNOWN
Gene: KCNMA1
Disease: Generalized epilepsy-paroxysmal dyskinesia syndrome; GEPD (ORPHA:79137)
Association type: UNKNOWN
Gene: FSHR
Disease: OVARIAN HYPERSTIMULATION SYNDROME (OMIM:608115)
Association type: MENDELIAN
Gene: FSHR
Disease: OVARIAN DYSGENESIS 1 (OMIM:233300)
Association type: MENDELIAN
Gene: FSHR
Disease: 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; 46,XX ovarian dysgenesis; 46,XX pure gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD (ORPHA:243)
Association type: UNKNOWN
Gene: FSHR
Disease: Ovarian hyperstimulation syndrome; OHSS (ORPHA:64739)
Association type: UNKNOWN
Gene: CHASERR
Disease:  (OMIM:621012)
Association type: MENDELIAN
Gene: RFC4
Disease:  (OMIM:621010)
Association type: MENDELIAN
Gene: TIMM8A
Disease: MOHR-TRANEBJAERG SYNDROME (OMIM:304700)
Association type: MENDELIAN
Gene: TIMM8A
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TIMM8A
Disease: Mohr-Tranebjaerg syndrome; DDON syndrome; Deafness-dystonia-optic neuronopathy syndrome; Hearing loss-dystonia-optic neuronopathy syndrome (ORPHA:52368)
Association type: UNKNOWN
Gene: CIB2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 48 (OMIM:609439)
Association type: MENDELIAN
Gene: CIB2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CIB2
Disease: USHER SYNDROME, TYPE IJ (OMIM:614869)
Association type: MENDELIAN
Gene: CIB2
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: CIB2
Disease: Usher syndrome type 1; USH1 (ORPHA:231169)
Association type: UNKNOWN
Gene: UNG
Disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 (OMIM:608106)
Association type: MENDELIAN
Gene: UNG
Disease: Hyper-IgM syndrome type 5; HIGM5; Hyper-IgM syndrome due to UNG deficiency; Hyper-IgM syndrome due to uracil N-glycosylase (ORPHA:101092)
Association type: UNKNOWN
Gene: NEUROG3
Disease: DIARRHEA 4, MALABSORPTIVE, CONGENITAL (OMIM:610370)
Association type: MENDELIAN
Gene: NEUROG3
Disease: Enteric anendocrinosis; Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (ORPHA:83620)
Association type: UNKNOWN
Gene: ABCC8
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (OMIM:610374)
Association type: MENDELIAN
Gene: ABCC8
Disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 (OMIM:256450)
Association type: MENDELIAN
Gene: ABCC8
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: MENDELIAN
Gene: ABCC8
Disease: HYPOGLYCEMIA, LEUCINE-INDUCED (OMIM:240800)
Association type: MENDELIAN
Gene: ABCC8
Disease: DIABETES MELLITUS, PERMANENT NEONATAL, 3 (OMIM:618857)
Association type: MENDELIAN
Gene: ABCC8
Disease:  (OMIM:621196)
Association type: MENDELIAN
Gene: ABCC8
Disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Association type: UNKNOWN
Gene: ABCC8
Disease: Transient neonatal diabetes mellitus; TNDM (ORPHA:99886)
Association type: UNKNOWN
Gene: ABCC8
Disease: Autosomal recessive hyperinsulinism due to SUR1 deficiency; Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency (ORPHA:79643)
Association type: UNKNOWN
Gene: ABCC8
Disease: Autosomal dominant hyperinsulinism due to SUR1 deficiency; Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency (ORPHA:276575)
Association type: UNKNOWN
Gene: ABCC8
Disease: Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency; Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form (ORPHA:276598)
Association type: UNKNOWN
Gene: ABCC8
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: ABCC8
Disease: DEND syndrome; Developmental delay-epilepsy-neonatal diabetes syndrome (ORPHA:79134)
Association type: UNKNOWN
Gene: CYP24A1
Disease: HYPERCALCEMIA, INFANTILE, 1 (OMIM:143880)
Association type: MENDELIAN
Gene: CYP24A1
Disease: Autosomal recessive infantile hypercalcemia; Familial infantile hypercalcemia with suppressed intact parathyroid hormone (ORPHA:300547)
Association type: UNKNOWN
Gene: MVK
Disease: MEVALONIC ACIDURIA (OMIM:610377)
Association type: MENDELIAN
Gene: MVK
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MVK
Disease: HYPER-IgD SYNDROME (OMIM:260920)
Association type: MENDELIAN
Gene: MVK
Disease: POROKERATOSIS 3, MULTIPLE TYPES (OMIM:175900)
Association type: MENDELIAN
Gene: MVK
Disease: Hyperimmunoglobulinemia D with periodic fever; HIDS; Hyper-IgD syndrome; Hyperimmunoglobinemia D with recurrent fever; Hyperimmunoglobulinemia D syndrome; Partial mevalonate kinase deficiency (ORPHA:343)
Association type: UNKNOWN
Gene: MVK
Disease: Mevalonic aciduria; Complete mevalonate kinase deficiency; MVA (ORPHA:29)
Association type: UNKNOWN
Gene: MVK
Disease: Porokeratosis of Mibelli (ORPHA:735)
Association type: UNKNOWN
Gene: MVK
Disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Association type: UNKNOWN
Gene: CCR5
Disease: WEST NILE VIRUS, SUSCEPTIBILITY TO (OMIM:610379)
Association type: POLYGENIC
Gene: CCR5
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: CCR5
Disease: HEPATITIS C VIRUS, SUSCEPTIBILITY TO (OMIM:609532)
Association type: POLYGENIC
Gene: CCR5
Disease: TYPE 1 DIABETES MELLITUS 22 (OMIM:612522)
Association type: POLYGENIC
Gene: ALG8
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Association type: MENDELIAN
Gene: ALG8
Disease: POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617874)
Association type: MENDELIAN
Gene: ALG8
Disease: Isolated polycystic liver disease; ADPCLD; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Association type: UNKNOWN
Gene: ALG8
Disease: ALG8-CDG; CDG syndrome type Ih; CDG-Ih; CDG1H; Carbohydrate deficient glycoprotein syndrome type Ih; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Glucosyltransferase 2 deficiency (ORPHA:79325)
Association type: UNKNOWN
Gene: TBC1D24
Disease: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP (OMIM:608105)
Association type: MENDELIAN
Gene: TBC1D24
Disease: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (OMIM:220500)
Association type: MENDELIAN
Gene: TBC1D24
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Association type: MENDELIAN
Gene: TBC1D24
Disease: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE (OMIM:605021)
Association type: MENDELIAN
Gene: TBC1D24
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86 (OMIM:614617)
Association type: MENDELIAN
Gene: TBC1D24
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65 (OMIM:616044)
Association type: MENDELIAN
Gene: TBC1D24
Disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA; Autosomal dominant isolated neurosensory deafness type DFNA; Autosomal dominant isolated neurosensory hearing loss type DFNA; Autosomal dominant isolated sensorineural deafness type DFNA; Autosomal dominant isolated sensorineural hearing loss type DFNA; Autosomal dominant non-syndromic neurosensory deafness type DFNA; Autosomal dominant non-syndromic neurosensory hearing loss type DFNA; Autosomal dominant non-syndromic sensorineural hearing loss type DFNA (ORPHA:90635)
Association type: UNKNOWN
Gene: TBC1D24
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: TBC1D24
Disease: 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 (ORPHA:79500)
Association type: UNKNOWN
Gene: TBC1D24
Disease: Progressive myoclonic epilepsy with dystonia; PMED; Progressive myoclonus epilepsy with dystonia (ORPHA:352596)
Association type: UNKNOWN
Gene: TBC1D24
Disease: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation; Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome (ORPHA:352587)
Association type: UNKNOWN
Gene: TBC1D24
Disease: Familial infantile myoclonic epilepsy; FIME; Familial infantile myoclonus epilepsy (ORPHA:352582)
Association type: UNKNOWN
Gene: TBC1D24
Disease: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; Rolandic epilepsy exercise-induced dystonia (ORPHA:163727)
Association type: UNKNOWN
Gene: TBC1D24
Disease: Epilepsy of infancy with migrating focal seizures; EIMFS; Epilepsy with migrating focal seizure in infancy; MMPEI; MMPSI; MPEI; MPSI; Malignant migrating partial epilepsy of infancy; Malignant migrating partial seizures of infancy; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Association type: UNKNOWN
Gene: BHLHA9
Disease: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION (OMIM:609432)
Association type: MENDELIAN
Gene: BHLHA9
Disease: CAMPTOSYNPOLYDACTYLY, COMPLEX (OMIM:607539)
Association type: MENDELIAN
Gene: BHLHA9
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: BHLHA9
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BHLHA9
Disease: Tibial aplasia-ectrodactyly syndrome; Aplasia of tibia with split-hand/split-foot deformity; SHFLD syndrome; SHFM associated with aplasia of long bones; Split hand/foot malformation with long bone deficiency; Split-hand/foot malformation associated with aplasia of long bones; TH-SHFM; Tibial hemimelia with split hand/foot malformation; Tibial hemimelia-ectrodactyly syndrome (ORPHA:3329)
Association type: UNKNOWN
Gene: BHLHA9
Disease: Gollop-Wolfgang complex; Bifid femur-monodactylous ectrodactyly syndrome (ORPHA:1986)
Association type: UNKNOWN
Gene: BHLHA9
Disease: Mesoaxial synostotic syndactyly with phalangeal reduction; MSSD; Syndactyly type 9; Syndactyly, Malik-Percin type (ORPHA:157801)
Association type: UNKNOWN
Gene: TCP1
Disease:  (OMIM:621021)
Association type: MENDELIAN
Gene: OTULIN
Disease:  (OMIM:621030)
Association type: MENDELIAN
Gene: OTULIN
Disease: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION (OMIM:619986)
Association type: POLYGENIC
Gene: OTULIN
Disease: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME (OMIM:617099)
Association type: MENDELIAN
Gene: OTULIN
Disease: Infantile-onset periodic fever-panniculitis-dermatosis syndrome; ORAS; OTULIN deficiency; OTULIN-related autoinflammatory syndrome; Otulipenia (ORPHA:500062)
Association type: UNKNOWN
Gene: TTC7A
Disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME (OMIM:243150)
Association type: MENDELIAN
Gene: TTC7A
Disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Association type: UNKNOWN
Gene: RAX2
Disease: CONE-ROD DYSTROPHY 11 (OMIM:610381)
Association type: MENDELIAN
Gene: RAX2
Disease: RETINITIS PIGMENTOSA 95 (OMIM:620102)
Association type: MENDELIAN
Gene: RAX2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RAX2
Disease: MACULAR DEGENERATION, AGE-RELATED, 6 (OMIM:613757)
Association type: MENDELIAN
Gene: RAX2
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: IL10
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: IL10
Disease: GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO (OMIM:614395)
Association type: POLYGENIC
Gene: IL10
Disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Association type: POLYGENIC
Gene: IL10
Disease: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; IL10-related early-onset IBD; IL10-related early-onset inflammatory bowel disease (ORPHA:238569)
Association type: UNKNOWN
Gene: IL10
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: IL10
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: CX3CR1
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: CX3CR1
Disease: CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:607339)
Association type: POLYGENIC
Gene: CX3CR1
Disease: MACULAR DEGENERATION, AGE-RELATED, 12 (OMIM:613784)
Association type: POLYGENIC
Gene: CCR2
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: CCR2
Disease: POLYCYSTIC LUNG DISEASE (OMIM:219600)
Association type: MENDELIAN
Gene: CXCL12
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: TLR3
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: TLR3
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2 (OMIM:613002)
Association type: POLYGENIC
Gene: TLR3
Disease: Herpes simplex virus encephalitis; HSE; HSV encephalitis; HSVE; Herpes simplex meningo-encephalitis; Herpes simplex neuroinvasion; Herpetic encephalitis (ORPHA:1930)
Association type: UNKNOWN
Gene: CCL3L1
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: HLA-C
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: HLA-C
Disease: PSORIASIS 1, SUSCEPTIBILITY TO (OMIM:177900)
Association type: POLYGENIC
Gene: HLA-C
Disease: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2); B-ALL with t(9;22)(q34.1;q11.2); BCR-ABL1-like B-ALL; Philadelphia chromosome-like B-ALL (ORPHA:585909)
Association type: UNKNOWN
Gene: CD209
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: CD209
Disease: DENGUE VIRUS, SUSCEPTIBILITY TO (OMIM:614371)
Association type: POLYGENIC
Gene: CD209
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
Association type: POLYGENIC
Gene: CXCR1
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: CCL2
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: CCL3
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: CCL11
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: CCL11
Disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Association type: POLYGENIC
Gene: CCL5
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: IFNG
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO (OMIM:609423)
Association type: POLYGENIC
Gene: IFNG
Disease: APLASTIC ANEMIA (OMIM:609135)
Association type: POLYGENIC
Gene: IFNG
Disease: IMMUNODEFICIENCY 69 (OMIM:618963)
Association type: MENDELIAN
Gene: IFNG
Disease: HEPATITIS C VIRUS, SUSCEPTIBILITY TO (OMIM:609532)
Association type: POLYGENIC
Gene: IFNG
Disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Association type: POLYGENIC
Gene: IFNG
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
Association type: POLYGENIC
Gene: IFNG
Disease:  (ORPHA:699618)
Association type: UNKNOWN
Gene: IFNG
Disease: Idiopathic aplastic anemia; Idiopathic bone marrow failure (ORPHA:88)
Association type: UNKNOWN
Gene: IFNG
Disease: Tuberous sclerosis complex; Bourneville syndrome; Tuberous sclerosis (ORPHA:805)
Association type: UNKNOWN
Gene: CCT3
Disease:  (OMIM:621034)
Association type: MENDELIAN
Gene: MAP3K3
Disease:  (OMIM:621032)
Association type: MENDELIAN
Gene: CFTR
Disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Association type: POLYGENIC
Gene: CFTR
Disease: CYSTIC FIBROSIS (OMIM:219700)
Association type: MENDELIAN
Gene: CFTR
Disease: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF (OMIM:277180)
Association type: MENDELIAN
Gene: CFTR
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Association type: POLYGENIC
Gene: CFTR
Disease: Congenital bilateral absence of vas deferens; Congenital bilateral agenesis of vas deferens; Congenital bilateral aplasia of vas deferens (ORPHA:48)
Association type: UNKNOWN
Gene: CFTR
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: CFTR
Disease: Idiopathic bronchiectasis (ORPHA:60033)
Association type: UNKNOWN
Gene: CFTR
Disease:  (ORPHA:700124)
Association type: UNKNOWN
Gene: CFTR
Disease: Aquagenic palmoplantar keratoderma; Aquagenic keratoderma; Aquagenic syringeal acrokeratoderma; Aquagenic wrinkling of the palms; Transient reactive papulotranslucent acrokeratoderma (ORPHA:498359)
Association type: UNKNOWN
Gene: CFTR
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: CTRC
Disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Association type: POLYGENIC
Gene: CTRC
Disease: Hereditary chronic pancreatitis (ORPHA:676)
Association type: UNKNOWN
Gene: CTRC
Disease: Tropical pancreatitis; TCP; Tropical calcific chronic pancreatitis (ORPHA:103918)
Association type: UNKNOWN
Gene: PRSS2
Disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Association type: POLYGENIC
Gene: PRSS2
Disease: Hereditary chronic pancreatitis (ORPHA:676)
Association type: UNKNOWN
Gene: PRSS1
Disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Association type: MENDELIAN
Gene: PRSS1
Disease: Hereditary chronic pancreatitis (ORPHA:676)
Association type: UNKNOWN
Gene: SPINK1
Disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Association type: MENDELIAN
Gene: SPINK1
Disease: TROPICAL CALCIFIC PANCREATITIS (OMIM:608189)
Association type: MENDELIAN
Gene: SPINK1
Disease:  (ORPHA:700124)
Association type: UNKNOWN
Gene: SPINK1
Disease: Tropical pancreatitis; TCP; Tropical calcific chronic pancreatitis (ORPHA:103918)
Association type: UNKNOWN
Gene: ZFYVE26
Disease: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE (OMIM:270700)
Association type: MENDELIAN
Gene: ZFYVE26
Disease: Autosomal recessive spastic paraplegia type 15; Hereditary spastic paraparesis type 15; Kjellin syndrome; SPG15; Spastic paraplegia-retinal degeneration syndrome (ORPHA:100996)
Association type: UNKNOWN
Gene: ATP1A2
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
Association type: MENDELIAN
Gene: ATP1A2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98 (OMIM:619605)
Association type: MENDELIAN
Gene: ATP1A2
Disease: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES (OMIM:619602)
Association type: MENDELIAN
Gene: ATP1A2
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (OMIM:602481)
Association type: MENDELIAN
Gene: ATP1A2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: ATP1A2
Disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Association type: UNKNOWN
Gene: ATP1A2
Disease: Alternating hemiplegia of childhood; AHC (ORPHA:2131)
Association type: UNKNOWN
Gene: FRYL
Disease:  (OMIM:621049)
Association type: MENDELIAN
Gene: PRRT2
Disease: EPISODIC KINESIGENIC DYSKINESIA 1 (OMIM:128200)
Association type: MENDELIAN
Gene: PRRT2
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2 (OMIM:605751)
Association type: MENDELIAN
Gene: PRRT2
Disease: CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS (OMIM:602066)
Association type: MENDELIAN
Gene: PRRT2
Disease: Self-limited infantile epilepsy; BFIE; BFIS; Benign familial infantile convulsions; Benign familial infantile epilepsy; Benign familial infantile seizures; SeLIE (ORPHA:306)
Association type: UNKNOWN
Gene: PRRT2
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: PRRT2
Disease: Paroxysmal exertion-induced dyskinesia; DYT18; Dystonia 18; PED (ORPHA:98811)
Association type: UNKNOWN
Gene: PRRT2
Disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Association type: UNKNOWN
Gene: PRRT2
Disease: Infantile convulsions and choreoathetosis; ICCA syndrome; Paroxysmal kinesigenic dyskinesia and infantile convulsions (ORPHA:31709)
Association type: UNKNOWN
Gene: PRRT2
Disease: Paroxysmal kinesigenic dyskinesia; Familial PKD; Familial paroxysmal kinesigenic dyskinesia; Paroxysmal kinesigenic choreathetosis (ORPHA:98809)
Association type: UNKNOWN
Gene: PRRT2
Disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Association type: UNKNOWN
Gene: STOX1
Disease: PREECLAMPSIA/ECLAMPSIA 4 (OMIM:609404)
Association type: MENDELIAN
Gene: STOX1
Disease: Preeclampsia (ORPHA:275555)
Association type: UNKNOWN
Gene: TBCE
Disease: KENNY-CAFFEY SYNDROME, TYPE 1 (OMIM:244460)
Association type: MENDELIAN
Gene: TBCE
Disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Association type: MENDELIAN
Gene: TBCE
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TBCE
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TBCE
Disease: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY (OMIM:617207)
Association type: MENDELIAN
Gene: TBCE
Disease: Sanjad-Sakati syndrome; HRD syndrome; Hypoparathyroidism-intellectual disability-dysmorphism syndrome; Hypoparathyroidism-short stature-intellectual disability-seizures syndrome; Richardson-Kirk syndrome; SSS (ORPHA:2323)
Association type: UNKNOWN
Gene: TBCE
Disease: Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
Association type: UNKNOWN
Gene: TBCE
Disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
Association type: UNKNOWN
Gene: TCOF1
Disease: TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Association type: MENDELIAN
Gene: TCOF1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TCOF1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TCOF1
Disease: Treacher-Collins syndrome; Franceschetti-Klein syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Association type: UNKNOWN
Gene: ATRX
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1 (OMIM:309580)
Association type: MENDELIAN
Gene: ATRX
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED (OMIM:301040)
Association type: MENDELIAN
Gene: ATRX
Disease: ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME (OMIM:300448)
Association type: MENDELIAN
Gene: ATRX
Disease: Cushing disease; Corticotroph pituitary adenoma; Pituitary corticotroph micro-adenoma; Pituitary-dependent Cushing syndrome (ORPHA:96253)
Association type: UNKNOWN
Gene: ATRX
Disease: X-linked alpha-thalassemia-intellectual disability syndrome; ATR-X syndrome (ORPHA:847)
Association type: UNKNOWN