TaoMedAI/RareMedData huggingface dataset:
Gene: C3
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:613779)
Association type: MENDELIAN
Gene: C3
Disease: Complement component 3 deficiency; C3 deficiency (ORPHA:280133)
Association type: UNKNOWN
Gene: C3
Disease: Atypical hemolytic uremic syndrome with complement gene abnormality; Atypical HUS with complement gene abnormality; aHUS with complement gene abnormality (ORPHA:544472)
Association type: UNKNOWN
Gene: KRT1
Disease: EPIDERMOLYTIC HYPERKERATOSIS (OMIM:113800)
Association type: MENDELIAN
Gene: KRT1
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC (OMIM:600962)
Association type: MENDELIAN
Gene: KRT1
Disease: ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2 (OMIM:620148)
Association type: MENDELIAN
Gene: KRT1
Disease: ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE (OMIM:146590)
Association type: MENDELIAN
Gene: KRT1
Disease: KERATOSIS PALMOPLANTARIS STRIATA III (OMIM:607654)
Association type: MENDELIAN
Gene: KRT1
Disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 2 (OMIM:620411)
Association type: MENDELIAN
Gene: KRT1
Disease: Autosomal dominant epidermolytic ichthyosis; BCIE; Bullous congenital ichthyosiform erythroderma; Bullous congenital ichthyosiform erythroderma of Brock; Bullous ichthyosis; EHK; EI; Epidermolytic hyperkeratosis; Ichthyosis hystrix Brocq type (ORPHA:312)
Association type: UNKNOWN
Gene: KRT1
Disease: Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome; Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome (ORPHA:538574)
Association type: UNKNOWN
Gene: KRT1
Disease: Ichthyosis hystrix of Curth-Macklin; Ichthyosis hystrix, Curth-Macklin type (ORPHA:79503)
Association type: UNKNOWN
Gene: KRT1
Disease: KRT1-related diffuse nonepidermolytic keratoderma; KRT1-related diffuse NEPPK (ORPHA:530838)
Association type: UNKNOWN
Gene: KRT1
Disease: Striate palmoplantar keratoderma; Keratosis palmoplantaris striata; Keratosis palmoplantaris striata et areata; Keratosis palmoplantaris varians of Wachters (ORPHA:50942)
Association type: UNKNOWN
Gene: KRT1
Disease: Annular epidermolytic ichthyosis; AEI (ORPHA:281139)
Association type: UNKNOWN
Gene: KRT1
Disease: Congenital reticular ichthyosiform erythroderma; CRIE; IWC; Ichthyosis variegata; Ichthyosis with confetti (ORPHA:281190)
Association type: UNKNOWN
Gene: KRT1
Disease: Epidermolytic palmoplantar keratoderma; Diffuse erythrodermic palmoplantar keratoderma, Voerner type; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; EPPK; Epidermolytic palmoplantar keratoderma of Voerner; Epidermolytic palmoplantar keratoderma of Vörner (ORPHA:2199)
Association type: UNKNOWN
Gene: TOP2B
Disease: B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS (OMIM:609296)
Association type: MENDELIAN
Gene: TOP2B
Disease: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome; BILU syndrome; Hoffman syndrome (ORPHA:567502)
Association type: UNKNOWN
Gene: LDHA
Disease: GLYCOGEN STORAGE DISEASE XI (OMIM:612933)
Association type: MENDELIAN
Gene: LDHA
Disease: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency; GSD due to lactate dehydrogenase M-subunit deficiency; Glycogenosis due to lactate dehydrogenase M-subunit deficiency; LDH-M subunit deficiency; Lactate dehydrogenase A deficiency (ORPHA:284426)
Association type: UNKNOWN
Gene: LYST
Disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Association type: MENDELIAN
Gene: LYST
Disease: Chédiak-Higashi syndrome; Chédiak-Higashi disease; Chédiak-Higashi-Steinbrink syndrome (ORPHA:167)
Association type: UNKNOWN
Gene: LYST
Disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Association type: UNKNOWN
Gene: ENO3
Disease: GLYCOGEN STORAGE DISEASE XIII (OMIM:612932)
Association type: MENDELIAN
Gene: ENO3
Disease: Glycogen storage disease due to muscle beta-enolase deficiency; GSD due to muscle beta-enolase deficiency; GSDXIII; Glycogenosis due to muscle beta-enolase deficiency; Glycogenosis type 13; Muscle enolase deficiency; Muscular enolase deficiency (ORPHA:99849)
Association type: UNKNOWN
Gene: TUBA1A
Disease: LISSENCEPHALY 3 (OMIM:611603)
Association type: MENDELIAN
Gene: TUBA1A
Disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Association type: UNKNOWN
Gene: TUBA1A
Disease: Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; Pena-Shokeir syndrome type 1 (ORPHA:994)
Association type: UNKNOWN
Gene: TUBA1A
Disease: Congenital fibrosis of extraocular muscles; FEOM (ORPHA:45358)
Association type: UNKNOWN
Gene: TUBA1A
Disease: Tubulinopathy-associated dysgyria; Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome (ORPHA:467166)
Association type: UNKNOWN
Gene: DPM3
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15 (OMIM:612937)
Association type: MENDELIAN
Gene: DPM3
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 (OMIM:618992)
Association type: MENDELIAN
Gene: DPM3
Disease: DPM3-CDG; CDG syndrome type Io; CDG-Io; CDG1O; Carbohydrate deficient glycoprotein syndrome type Io; Congenital disorder of glycosylation type 1o; Congenital disorder of glycosylation type Io (ORPHA:263494)
Association type: UNKNOWN
Gene: AP4M1
Disease: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE (OMIM:612936)
Association type: MENDELIAN
Gene: AP4M1
Disease: Severe intellectual disability and progressive spastic paraplegia; AP4 deficiency syndrome (ORPHA:280763)
Association type: UNKNOWN
Gene: GK
Disease: GLYCEROL KINASE DEFICIENCY (OMIM:307030)
Association type: MENDELIAN
Gene: GK
Disease: Glycerol kinase deficiency, juvenile form (ORPHA:284411)
Association type: UNKNOWN
Gene: GK
Disease: Glycerol kinase deficiency, adult form (ORPHA:284414)
Association type: UNKNOWN
Gene: FTO
Disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Association type: MENDELIAN
Gene: FTO
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 (OMIM:612460)
Association type: POLYGENIC
Gene: FTO
Disease: Lethal polymalformative syndrome, Boissel type (ORPHA:210144)
Association type: UNKNOWN
Gene: ERBB2
Disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Association type: MENDELIAN
Gene: ERBB2
Disease: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE (OMIM:619465)
Association type: MENDELIAN
Gene: ERBB2
Disease: OVARIAN CANCER (OMIM:167000)
Association type: MENDELIAN
Gene: ERBB2
Disease: LUNG CANCER (OMIM:211980)
Association type: MENDELIAN
Gene: ERBB2
Disease: GASTRIC CANCER (OMIM:613659)
Association type: MENDELIAN
Gene: ERBB2
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: ERBB2
Disease: Extramammary Paget disease (ORPHA:2800)
Association type: UNKNOWN
Gene: ERBB2
Disease: Adenocarcinoma of the esophagus; Esophageal adenocarcinoma (ORPHA:99976)
Association type: UNKNOWN
Gene: ERBB2
Disease: Serous carcinoma of the corpus uteri; Endometrial serous carcinoma (ORPHA:213726)
Association type: UNKNOWN
Gene: TP53
Disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Association type: POLYGENIC
Gene: TP53
Disease: NASOPHARYNGEAL CARCINOMA (OMIM:607107)
Association type: MENDELIAN
Gene: TP53
Disease: PANCREATIC CANCER (OMIM:260350)
Association type: MENDELIAN
Gene: TP53
Disease: PAPILLOMA OF CHOROID PLEXUS (OMIM:260500)
Association type: POLYGENIC
Gene: TP53
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 (OMIM:614740)
Association type: POLYGENIC
Gene: TP53
Disease: OSTEOGENIC SARCOMA (OMIM:259500)
Association type: POLYGENIC
Gene: TP53
Disease: BREAST CANCER (OMIM:114480)
Association type: MENDELIAN
Gene: TP53
Disease: BONE MARROW FAILURE SYNDROME 5 (OMIM:618165)
Association type: MENDELIAN
Gene: TP53
Disease: LI-FRAUMENI SYNDROME (OMIM:151623)
Association type: MENDELIAN
Gene: TP53
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: POLYGENIC
Gene: TP53
Disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Association type: MENDELIAN
Gene: TP53
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY (OMIM:202300)
Association type: POLYGENIC
Gene: TP53
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: TP53
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: TP53
Disease: Adult hepatocellular carcinoma; Adult HCC (ORPHA:210159)
Association type: UNKNOWN
Gene: TP53
Disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Association type: UNKNOWN
Gene: TP53
Disease: Papilloma of choroid plexus; CPP; Choroid plexus papilloma (ORPHA:2807)
Association type: UNKNOWN
Gene: TP53
Disease: Essential thrombocythemia; ET; Essential thrombocytosis (ORPHA:3318)
Association type: UNKNOWN
Gene: TP53
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: TP53
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: TP53
Disease: Cushing disease; Corticotroph pituitary adenoma; Pituitary corticotroph micro-adenoma; Pituitary-dependent Cushing syndrome (ORPHA:96253)
Association type: UNKNOWN
Gene: TP53
Disease: Myelodysplastic syndrome (ORPHA:52688)
Association type: UNKNOWN
Gene: TP53
Disease: Familial pancreatic carcinoma; Familial pancreatic cancer (ORPHA:1333)
Association type: UNKNOWN
Gene: TP53
Disease: Small cell lung cancer; SCLC (ORPHA:70573)
Association type: UNKNOWN
Gene: TP53
Disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Association type: UNKNOWN
Gene: TP53
Disease: Choroid plexus carcinoma (ORPHA:251899)
Association type: UNKNOWN
Gene: TP53
Disease: Pleomorphic rhabdomyosarcoma (ORPHA:293199)
Association type: UNKNOWN
Gene: TP53
Disease: B-cell chronic lymphocytic leukemia; B-CLL; B-cell chronic lymphoid leukemia; CLL; CLL/SLL; Chronic lymphocytic leukemia; Small lymphocytic lymphoma (ORPHA:67038)
Association type: UNKNOWN
Gene: TP53
Disease: Li-Fraumeni syndrome (ORPHA:524)
Association type: UNKNOWN
Gene: TP53
Disease: Embryonal rhabdomyosarcoma (ORPHA:99757)
Association type: UNKNOWN
Gene: TP53
Disease: Alveolar rhabdomyosarcoma (ORPHA:99756)
Association type: UNKNOWN
Gene: IDH1
Disease: GLIOMA SUSCEPTIBILITY 1 (OMIM:137800)
Association type: POLYGENIC
Gene: IDH1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IDH1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IDH1
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: IDH1
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: IDH1
Disease: Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Association type: UNKNOWN
Gene: IDH1
Disease: Acute myeloid leukaemia with myelodysplasia-related features; AML with multilineage dysplasia; AML with myelodysplasia-related features; Acute myeloid leukemia with multilineage dysplasia (ORPHA:86845)
Association type: UNKNOWN
Gene: IDH1
Disease: Maffucci syndrome; Enchondromatosis Spranger type II; Multiple Enchondromatosis type II; Multiple Enchondromatosis, Maffucci Type (ORPHA:163634)
Association type: UNKNOWN
Gene: IDH1
Disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria; MC-HGA (ORPHA:99646)
Association type: UNKNOWN
Gene: TPM3
Disease: NEMALINE MYOPATHY 1 (OMIM:609284)
Association type: MENDELIAN
Gene: TPM3
Disease: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Association type: MENDELIAN
Gene: TPM3
Disease: Inflammatory myofibroblastic tumor (ORPHA:178342)
Association type: UNKNOWN
Gene: TPM3
Disease: Congenital fiber-type disproportion myopathy; CFTDM (ORPHA:2020)
Association type: UNKNOWN
Gene: TPM3
Disease: Intermediate nemaline myopathy (ORPHA:171433)
Association type: UNKNOWN
Gene: TPM3
Disease: Childhood-onset nemaline myopathy; Mild nemaline myopathy (ORPHA:171439)
Association type: UNKNOWN
Gene: TPM3
Disease: Congenital generalized hypercontractile muscle stiffness syndrome (ORPHA:476406)
Association type: UNKNOWN
Gene: TPM3
Disease: Cap myopathy; Cap disease (ORPHA:171881)
Association type: UNKNOWN
Gene: TPM2
Disease: NEMALINE MYOPATHY 4 (OMIM:609285)
Association type: MENDELIAN
Gene: TPM2
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
Association type: MENDELIAN
Gene: TPM2
Disease: Congenital fiber-type disproportion myopathy; CFTDM (ORPHA:2020)
Association type: UNKNOWN
Gene: TPM2
Disease: Typical nemaline myopathy (ORPHA:171436)
Association type: UNKNOWN
Gene: TPM2
Disease: Childhood-onset nemaline myopathy; Mild nemaline myopathy (ORPHA:171439)
Association type: UNKNOWN
Gene: TPM2
Disease: Sheldon-Hall syndrome; DA2B; Distal arthrogryposis multiplex congenita type 2B; Distal arthrogryposis type 2B; Freeman-Sheldon syndrome variant; SSH (ORPHA:1147)
Association type: UNKNOWN
Gene: TPM2
Disease: Distal arthrogryposis type 1; DA1; Digitotalar dysmorphism (ORPHA:1146)
Association type: UNKNOWN
Gene: TPM2
Disease: Cap myopathy; Cap disease (ORPHA:171881)
Association type: UNKNOWN
Gene: SLC25A4
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Association type: MENDELIAN
Gene: SLC25A4
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Association type: MENDELIAN
Gene: SLC25A4
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Association type: MENDELIAN
Gene: SLC25A4
Disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Association type: UNKNOWN
Gene: SLC25A4
Disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Association type: UNKNOWN
Gene: PYCR1
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB (OMIM:612940)
Association type: MENDELIAN
Gene: PYCR1
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB (OMIM:614438)
Association type: MENDELIAN
Gene: PYCR1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PYCR1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PYCR1
Disease: PYCR1-related De Barsy syndrome; PYCR1 deficiency; Pyrroline-5-carboxylate reductase 1 deficiency (ORPHA:293633)
Association type: UNKNOWN
Gene: PYCR1
Disease: Geroderma osteodysplastica (ORPHA:2078)
Association type: UNKNOWN
Gene: PYCR1
Disease: Autosomal recessive cutis laxa type 2B; ARCL2, progeroid type; ARCL2B; Autosomal recessive cutis laxa type 2, progeroid type (ORPHA:357064)
Association type: UNKNOWN
Gene: KLHL7
Disease: RETINITIS PIGMENTOSA 42 (OMIM:612943)
Association type: MENDELIAN
Gene: KLHL7
Disease: PERCHING SYNDROME (OMIM:617055)
Association type: MENDELIAN
Gene: KLHL7
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: KLHL7
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: KLHL7
Disease: KLHL7-related Bohring-Opitz-like syndrome; KLHL7-related BOS-like syndrome (ORPHA:603689)
Association type: UNKNOWN
Gene: KLHL7
Disease: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome; PERCHING syndrome (ORPHA:603684)
Association type: UNKNOWN
Gene: KLHL7
Disease: Cold-induced sweating syndrome; CISS (ORPHA:157820)
Association type: UNKNOWN
Gene: KLHL7
Disease: KLHL7-related Crisponi/cold-induced sweating-like syndrome; KLHL7-related Crisponi-like syndrome (ORPHA:603694)
Association type: UNKNOWN
Gene: GORAB
Disease: GERODERMA OSTEODYSPLASTICUM (OMIM:231070)
Association type: MENDELIAN
Gene: GORAB
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: GORAB
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: GORAB
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: GORAB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GORAB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GORAB
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: GORAB
Disease: Geroderma osteodysplastica (ORPHA:2078)
Association type: UNKNOWN
Gene: FKTN
Disease: CARDIOMYOPATHY, DILATED, 1X (OMIM:611615)
Association type: MENDELIAN
Gene: FKTN
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 (OMIM:611588)
Association type: MENDELIAN
Gene: FKTN
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Association type: MENDELIAN
Gene: FKTN
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 (OMIM:613152)
Association type: MENDELIAN
Gene: FKTN
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 (OMIM:253800)
Association type: MENDELIAN
Gene: FKTN
Disease: Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; CMD-no MR; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Association type: UNKNOWN
Gene: FKTN
Disease: Congenital muscular dystrophy, Fukuyama type; FCMD; FKTN-related congenital muscular dystrophy; Fukuyama congenital muscular dystrophy (ORPHA:272)
Association type: UNKNOWN
Gene: FKTN
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: FKTN
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: FKTN
Disease: Fukutin-related limb-girdle muscular dystrophy R13; Autosomal recessive LGMD type 2M; Autosomal recessive limb-girdle muscular dystrophy type 2M; Fukutin-related LGMD R13; LGMD type 2M; LGMD2M (ORPHA:206554)
Association type: UNKNOWN
Gene: FKTN
Disease: Muscle-eye-brain disease; MEB syndrome; Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy (ORPHA:588)
Association type: UNKNOWN
Gene: L1CAM
Disease: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS (OMIM:307000)
Association type: MENDELIAN
Gene: L1CAM
Disease: MASA SYNDROME (OMIM:303350)
Association type: MENDELIAN
Gene: L1CAM
Disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED (OMIM:304100)
Association type: MENDELIAN
Gene: L1CAM
Disease: X-linked complicated corpus callosum dysgenesis (ORPHA:1497)
Association type: UNKNOWN
Gene: L1CAM
Disease: X-linked complicated spastic paraplegia type 1; SPG1 (ORPHA:306617)
Association type: UNKNOWN
Gene: L1CAM
Disease: MASA syndrome; Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome (ORPHA:2466)
Association type: UNKNOWN
Gene: L1CAM
Disease: Hydrocephalus with stenosis of the aqueduct of Sylvius; Bickers-Adams syndrome; HSAS; X-linked HSAS; X-linked acqueductal stenosis; X-linked hydrocephalus; X-linked hydrocephalus with stenosis of aqueduct of Sylvius (ORPHA:2182)
Association type: UNKNOWN
Gene: PMPCA
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Association type: MENDELIAN
Gene: PMPCA
Disease: Autosomal recessive cerebelloparenchymal disorder type 3; Autosomal recessive spinocerebellar ataxia type 2; SCAR2 (ORPHA:1170)
Association type: UNKNOWN
Gene: TWNK
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 (OMIM:609286)
Association type: MENDELIAN
Gene: TWNK
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
Association type: MENDELIAN
Gene: TWNK
Disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Association type: MENDELIAN
Gene: TWNK
Disease: PERRAULT SYNDROME 5 (OMIM:616138)
Association type: MENDELIAN
Gene: TWNK
Disease: Perrault syndrome type 2; XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations (ORPHA:642976)
Association type: UNKNOWN
Gene: TWNK
Disease: Perrault syndrome type 1; XX gonadal dysgenesis-deafness syndrome-without neurological manifestations (ORPHA:642945)
Association type: UNKNOWN
Gene: TWNK
Disease: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; SANDO (ORPHA:70595)
Association type: UNKNOWN
Gene: TWNK
Disease: Infantile-onset spinocerebellar ataxia; IOSCA; Ohaha syndrome; Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome (ORPHA:1186)
Association type: UNKNOWN
Gene: TWNK
Disease: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form; mtDNA depletion syndrome, hepatocerebrorenal form (ORPHA:363534)
Association type: UNKNOWN
Gene: TWNK
Disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Association type: UNKNOWN
Gene: SLC25A12
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 (OMIM:612949)
Association type: MENDELIAN
Gene: SLC25A12
Disease: Epileptic encephalopathy with global cerebral demyelination; AGC1 deficiency; Mitochondrial aspartate-glutamate carrier 1 deficiency (ORPHA:353217)
Association type: UNKNOWN
Gene: GNAI2
Disease: VENTRICULAR TACHYCARDIA, FAMILIAL (OMIM:192605)
Association type: MENDELIAN
Gene: NPHP3
Disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Association type: MENDELIAN
Gene: NPHP3
Disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Association type: MENDELIAN
Gene: NPHP3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NPHP3
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Association type: MENDELIAN
Gene: NPHP3
Disease: Senior-Loken syndrome; Nephronophthisis with retinal dystrophy; Renal dysplasia-retinal aplasia syndrome; SLSN (ORPHA:3156)
Association type: UNKNOWN
Gene: NPHP3
Disease: NPHP3-related Meckel-like syndrome; Goldston syndrome; Meckel syndrome type 7; Meckel-like syndrome type 1; Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome (ORPHA:3032)
Association type: UNKNOWN
Gene: NPHP3
Disease: Renal-hepatic-pancreatic dysplasia; Ivemark II syndrome; Renohepaticopancreatic dysplasia (ORPHA:294415)
Association type: UNKNOWN
Gene: NPHP3
Disease: Infantile nephronophthisis; Autosomal recessive infantile NPHP; Autosomal recessive infantile nephronophthisis (ORPHA:93591)
Association type: UNKNOWN
Gene: NPHP3
Disease: Late-onset nephronophthisis (ORPHA:93589)
Association type: UNKNOWN
Gene: AURKC
Disease: SPERMATOGENIC FAILURE 5 (OMIM:243060)
Association type: MENDELIAN
Gene: AURKC
Disease: Male infertility due to large-headed multiflagellar polyploid spermatozoa; Macrocephalic sperm head syndrome; Male infertility due to macrozoospermia (ORPHA:137893)
Association type: UNKNOWN
Gene: MYLK2
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Association type: MENDELIAN
Gene: MYH6
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Association type: MENDELIAN
Gene: MYH6
Disease: ATRIAL SEPTAL DEFECT 3 (OMIM:614089)
Association type: MENDELIAN
Gene: MYH6
Disease: SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO (OMIM:614090)
Association type: POLYGENIC
Gene: MYH6
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14 (OMIM:613251)
Association type: MENDELIAN
Gene: MYH6
Disease: CARDIOMYOPATHY, DILATED, 1EE (OMIM:613252)
Association type: MENDELIAN
Gene: MYH6
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: MYH6
Disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Association type: UNKNOWN
Gene: MYH6
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: MYH6
Disease: Familial sick sinus syndrome (ORPHA:166282)
Association type: UNKNOWN
Gene: KBTBD13
Disease: NEMALINE MYOPATHY 6 (OMIM:609273)
Association type: MENDELIAN
Gene: KBTBD13
Disease: Childhood-onset nemaline myopathy; Mild nemaline myopathy (ORPHA:171439)
Association type: UNKNOWN
Gene: GJB2
Disease: VOHWINKEL SYNDROME (OMIM:124500)
Association type: MENDELIAN
Gene: GJB2
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
Association type: MENDELIAN
Gene: GJB2
Disease: BART-PUMPHREY SYNDROME (OMIM:149200)
Association type: MENDELIAN
Gene: GJB2
Disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
Association type: MENDELIAN