TaoMedAI/RareMedData huggingface dataset:
Gene: COL11A1
Disease: FIBROCHONDROGENESIS 1 (OMIM:228520)
Association type: MENDELIAN
Gene: COL11A1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COL11A1
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: COL11A1
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: COL11A1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COL11A1
Disease: DEAFNESS, AUTOSOMAL DOMINANT 37 (OMIM:618533)
Association type: MENDELIAN
Gene: COL11A1
Disease: Stickler syndrome type 2 (ORPHA:90654)
Association type: UNKNOWN
Gene: COL11A1
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: COL11A1
Disease: Fibrochondrogenesis (ORPHA:2021)
Association type: UNKNOWN
Gene: COL11A1
Disease: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome; Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome (ORPHA:440354)
Association type: UNKNOWN
Gene: COL11A1
Disease: Marshall syndrome (ORPHA:560)
Association type: UNKNOWN
Gene: COL11A2
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: COL11A2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 53 (OMIM:609706)
Association type: MENDELIAN
Gene: COL11A2
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: COL11A2
Disease: FIBROCHONDROGENESIS 2 (OMIM:614524)
Association type: MENDELIAN
Gene: COL11A2
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
Association type: MENDELIAN
Gene: COL11A2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COL11A2
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: COL11A2
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: COL11A2
Disease: DEAFNESS, AUTOSOMAL DOMINANT 13 (OMIM:601868)
Association type: MENDELIAN
Gene: COL11A2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COL11A2
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: COL11A2
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: COL11A2
Disease: Autosomal recessive otospondylomegaepiphyseal dysplasia; OSMED (ORPHA:1427)
Association type: UNKNOWN
Gene: COL11A2
Disease: Fibrochondrogenesis (ORPHA:2021)
Association type: UNKNOWN
Gene: COL11A2
Disease: Autosomal dominant otospondylomegaepiphyseal dysplasia; AD OSMED; Stickler syndrome type 3; Stickler syndrome, non-ocular type (ORPHA:166100)
Association type: UNKNOWN
Gene: KCNJ13
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: KCNJ13
Disease: LEBER CONGENITAL AMAUROSIS 16 (OMIM:614186)
Association type: MENDELIAN
Gene: KCNJ13
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: KCNJ13
Disease: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE (OMIM:193230)
Association type: MENDELIAN
Gene: KCNJ13
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: KCNJ13
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: KCNJ13
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: KCNJ13
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: KCNJ13
Disease: Snowflake vitreoretinal degeneration (ORPHA:91496)
Association type: UNKNOWN
Gene: LRP2
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: LRP2
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: LRP2
Disease: DONNAI-BARROW SYNDROME (OMIM:222448)
Association type: MENDELIAN
Gene: LRP2
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: LRP2
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: LRP2
Disease: Donnai-Barrow syndrome; DBS/FOAR syndrome; Diaphragmatic hernia-exomphalos-hypertelorism syndrome; Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome; FOAR syndrome; Facio-oculo-acoustico-renal syndrome; Holmes-Schepens syndrome; Syndrome of ocular and facial anomalies, telecanthus and deafness; Syndrome of ocular and facial anomalies, telecanthus and hearing loss (ORPHA:2143)
Association type: UNKNOWN
Gene: BMP4
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: BMP4
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: BMP4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BMP4
Disease: OROFACIAL CLEFT 11 (OMIM:600625)
Association type: MENDELIAN
Gene: BMP4
Disease: MICROPHTHALMIA, SYNDROMIC 6 (OMIM:607932)
Association type: MENDELIAN
Gene: BMP4
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: BMP4
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: BMP4
Disease: Cleft lip/palate; Alveolar cleft lip and palate; Cleft lip and palate; Cleft lip-alveolus-palate syndrome; FLP (ORPHA:199306)
Association type: UNKNOWN
Gene: BMP4
Disease: Microphthalmia with brain and digit anomalies; Bakrania-Ragge syndrome; MCOPS6; Syndromic microphthalmia type 6 (ORPHA:139471)
Association type: UNKNOWN
Gene: BMP4
Disease: Renal agenesis, unilateral (ORPHA:93100)
Association type: UNKNOWN
Gene: BMP4
Disease: Stickler syndrome; Hereditary progressive arthroophthalmopathy (ORPHA:828)
Association type: UNKNOWN
Gene: SLITRK6
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: SLITRK6
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: SLITRK6
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: SLITRK6
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: SLITRK6
Disease: DEAFNESS AND MYOPIA (OMIM:221200)
Association type: MENDELIAN
Gene: SLITRK6
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: SLITRK6
Disease: High myopia-sensorineural deafness syndrome; High myopia-sensorineural hearing loss syndrome (ORPHA:363396)
Association type: UNKNOWN
Gene: P3H2
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: P3H2
Disease: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
Association type: MENDELIAN
Gene: P3H2
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: P3H2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: P3H2
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: P3H2
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: P3H2
Disease: Rare isolated myopia (ORPHA:98619)
Association type: UNKNOWN
Gene: LOXL3
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: LOXL3
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: LOXL3
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: LOXL3
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: LOXL3
Disease: MYOPIA 28, AUTOSOMAL RECESSIVE (OMIM:619781)
Association type: MENDELIAN
Gene: LOXL3
Disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Association type: UNKNOWN
Gene: ORAI1
Disease: IMMUNODEFICIENCY 9 (OMIM:612782)
Association type: MENDELIAN
Gene: ORAI1
Disease: MYOPATHY, TUBULAR AGGREGATE, 2 (OMIM:615883)
Association type: MENDELIAN
Gene: ORAI1
Disease: Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome; Thrombocytopathy-asplenia-miosis syndrome (ORPHA:3204)
Association type: UNKNOWN
Gene: ORAI1
Disease: Tubular aggregate myopathy (ORPHA:2593)
Association type: UNKNOWN
Gene: ORAI1
Disease: Combined immunodeficiency due to ORAI1 deficiency; CID due to ORAI1 deficiency (ORPHA:317428)
Association type: UNKNOWN
Gene: LRTOMT
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63 (OMIM:611451)
Association type: MENDELIAN
Gene: LRTOMT
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: NSDHL
Disease: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (OMIM:308050)
Association type: MENDELIAN
Gene: NSDHL
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NSDHL
Disease: CK SYNDROME (OMIM:300831)
Association type: MENDELIAN
Gene: NSDHL
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NSDHL
Disease: CHILD syndrome; CHILD nevus; Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (ORPHA:139)
Association type: UNKNOWN
Gene: NSDHL
Disease: CK syndrome; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome (ORPHA:251383)
Association type: UNKNOWN
Gene: GH1
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB (OMIM:612781)
Association type: MENDELIAN
Gene: GH1
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (OMIM:262400)
Association type: MENDELIAN
Gene: GH1
Disease: KOWARSKI SYNDROME (OMIM:262650)
Association type: MENDELIAN
Gene: GH1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GH1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GH1
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II (OMIM:173100)
Association type: MENDELIAN
Gene: GH1
Disease: Isolated growth hormone deficiency type IB; Congenital IGHD type IB; Congenital isolated GH deficiency type IB; Congenital isolated growth hormone deficiency type IB (ORPHA:231671)
Association type: UNKNOWN
Gene: GH1
Disease: Isolated growth hormone deficiency type II; Congenital IGHD type II; Congenital isolated GH deficiency type II; Congenital isolated growth hormone deficiency type II (ORPHA:231679)
Association type: UNKNOWN
Gene: GH1
Disease: Isolated growth hormone deficiency type IA; Congenital IGHD type IA; Congenital isolated GH deficiency type IA; Congenital isolated growth hormone deficiency type IA (ORPHA:231662)
Association type: UNKNOWN
Gene: GH1
Disease: Short stature due to growth hormone qualitative anomaly; Kowarski syndrome (ORPHA:629)
Association type: UNKNOWN
Gene: LIPA
Disease: LYSOSOMAL ACID LIPASE DEFICIENCY (OMIM:278000)
Association type: MENDELIAN
Gene: LIPA
Disease: WOLMAN DISEASE (OMIM:620151)
Association type: MENDELIAN
Gene: LIPA
Disease: Wolman disease (ORPHA:75233)
Association type: UNKNOWN
Gene: LIPA
Disease: Cholesteryl ester storage disease; Cholesterol ester storage disease (ORPHA:75234)
Association type: UNKNOWN
Gene: RYR1
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (OMIM:255320)
Association type: MENDELIAN
Gene: RYR1
Disease: KING-DENBOROUGH SYNDROME (OMIM:619542)
Association type: MENDELIAN
Gene: RYR1
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 (OMIM:145600)
Association type: POLYGENIC
Gene: RYR1
Disease: CENTRAL CORE DISEASE OF MUSCLE (OMIM:117000)
Association type: MENDELIAN
Gene: RYR1
Disease:  (ORPHA:700188)
Association type: UNKNOWN
Gene: RYR1
Disease: Benign Samaritan congenital myopathy (ORPHA:324581)
Association type: UNKNOWN
Gene: RYR1
Disease: Moderate multiminicore disease with hand involvement (ORPHA:178145)
Association type: UNKNOWN
Gene: RYR1
Disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Association type: UNKNOWN
Gene: RYR1
Disease: Autosomal dominant centronuclear myopathy; AD-CNM (ORPHA:169189)
Association type: UNKNOWN
Gene: RYR1
Disease: Exercise-induced malignant hyperthermia; Exertional heat stroke (ORPHA:466650)
Association type: UNKNOWN
Gene: RYR1
Disease: Congenital multicore myopathy with external ophthalmoplegia (ORPHA:98905)
Association type: UNKNOWN
Gene: RYR1
Disease: Congenital myopathy with myasthenic-like onset (ORPHA:424107)
Association type: UNKNOWN
Gene: RYR1
Disease: Central core disease (ORPHA:597)
Association type: UNKNOWN
Gene: RYR1
Disease: Lethal multiple pterygium syndrome; Autosomal recessive lethal multiple pterygium syndrome; LMPS (ORPHA:33108)
Association type: UNKNOWN
Gene: RYR1
Disease: Malignant hyperthermia of anesthesia; Hyperthermia of anesthesia (ORPHA:423)
Association type: UNKNOWN
Gene: RYR1
Disease: King-Denborough syndrome; Koussef-Nichols syndrome (ORPHA:99741)
Association type: UNKNOWN
Gene: STIM1
Disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Association type: MENDELIAN
Gene: STIM1
Disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Association type: MENDELIAN
Gene: STIM1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: STIM1
Disease: STORMORKEN SYNDROME (OMIM:185070)
Association type: MENDELIAN
Gene: STIM1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: STIM1
Disease: Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome; Thrombocytopathy-asplenia-miosis syndrome (ORPHA:3204)
Association type: UNKNOWN
Gene: STIM1
Disease: Tubular aggregate myopathy (ORPHA:2593)
Association type: UNKNOWN
Gene: STIM1
Disease: Combined immunodeficiency due to STIM1 deficiency; CID due to STIM1 deficiency (ORPHA:317430)
Association type: UNKNOWN
Gene: OTX2
Disease: MICROPHTHALMIA, SYNDROMIC 5 (OMIM:610125)
Association type: MENDELIAN
Gene: OTX2
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 (OMIM:613986)
Association type: MENDELIAN
Gene: OTX2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: OTX2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: OTX2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: OTX2
Disease: Butterfly-shaped pigment dystrophy; Butterfly-shaped pattern dystrophy; Butterfly-shaped pigmentary macular dystrophy (ORPHA:99001)
Association type: UNKNOWN
Gene: OTX2
Disease: Septo-optic dysplasia spectrum; De Morsier syndrome; SOD; Septo-optic dysplasia (ORPHA:3157)
Association type: UNKNOWN
Gene: OTX2
Disease: Combined pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism; Multiple pituitary hormone deficiencies, genetic forms (ORPHA:95494)
Association type: UNKNOWN
Gene: OTX2
Disease: Syndromic microphthalmia type 5; MCOPS5; Syndromic microphthalmia/anophthalmia due to OTX2 mutation (ORPHA:178364)
Association type: UNKNOWN
Gene: OTX2
Disease: Agnathia-holoprosencephaly-situs inversus syndrome (ORPHA:990)
Association type: UNKNOWN
Gene: OTX2
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: OTX2
Disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Association type: UNKNOWN
Gene: CNNM4
Disease: JALILI SYNDROME (OMIM:217080)
Association type: MENDELIAN
Gene: CNNM4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CNNM4
Disease: Jalili syndrome; Cone rod dystrophy-amelogenesis imperfecta syndrome (ORPHA:1873)
Association type: UNKNOWN
Gene: CTSD
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 10 (OMIM:610127)
Association type: MENDELIAN
Gene: CTSD
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CTSD
Disease:  (ORPHA:700487)
Association type: UNKNOWN
Gene: CTSD
Disease:  (ORPHA:700492)
Association type: UNKNOWN
Gene: CTSD
Disease:  (ORPHA:700497)
Association type: UNKNOWN
Gene: MYOT
Disease: MYOPATHY, MYOFIBRILLAR, 3 (OMIM:609200)
Association type: MENDELIAN
Gene: MYOT
Disease: Distal myotilinopathy (ORPHA:98911)
Association type: UNKNOWN
Gene: MYOT
Disease: Spheroid body myopathy (ORPHA:268129)
Association type: UNKNOWN
Gene: WNT10A
Disease: ODONTOONYCHODERMAL DYSPLASIA (OMIM:257980)
Association type: MENDELIAN
Gene: WNT10A
Disease: SCHOPF-SCHULZ-PASSARGE SYNDROME (OMIM:224750)
Association type: MENDELIAN
Gene: WNT10A
Disease: TOOTH AGENESIS, SELECTIVE, 4 (OMIM:150400)
Association type: MENDELIAN
Gene: WNT10A
Disease: Odonto-onycho-dermal dysplasia; OODD (ORPHA:2721)
Association type: UNKNOWN
Gene: WNT10A
Disease: Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED; Autosomal recessive anhidrotic ectodermal dysplasia (ORPHA:248)
Association type: UNKNOWN
Gene: WNT10A
Disease: Schöpf-Schulz-Passarge syndrome; Eccrine tumors-ectodermal dysplasia; Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS (ORPHA:50944)
Association type: UNKNOWN
Gene: WNT10A
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: WDPCP
Disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Association type: MENDELIAN
Gene: WDPCP
Disease: BARDET-BIEDL SYNDROME 15 (OMIM:615992)
Association type: MENDELIAN
Gene: WDPCP
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: WDPCP
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: WDPCP
Disease: Heart defect-tongue hamartoma-polysyndactyly syndrome; Ostravik-Lindemann-Solberg syndrome (ORPHA:1338)
Association type: UNKNOWN
Gene: POLG2
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4 (OMIM:610131)
Association type: MENDELIAN
Gene: POLG2
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) (OMIM:619425)
Association type: MENDELIAN
Gene: POLG2
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (OMIM:618528)
Association type: MENDELIAN
Gene: POLG2
Disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Association type: UNKNOWN
Gene: ACTC1
Disease: ATRIAL SEPTAL DEFECT 5 (OMIM:612794)
Association type: MENDELIAN
Gene: ACTC1
Disease: CARDIOMYOPATHY, DILATED, 1R (OMIM:613424)
Association type: MENDELIAN
Gene: ACTC1
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 (OMIM:612098)
Association type: MENDELIAN
Gene: ACTC1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ACTC1
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: ACTC1
Disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Association type: UNKNOWN
Gene: ACTC1
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: ABCG8
Disease: GALLBLADDER DISEASE 4 (OMIM:611465)
Association type: POLYGENIC
Gene: ABCG8
Disease: SITOSTEROLEMIA 1 (OMIM:210250)
Association type: MENDELIAN
Gene: ABCG8
Disease: Sitosterolemia; Phytosterolemia (ORPHA:2882)
Association type: UNKNOWN
Gene: ABCG8
Disease: Homozygous familial hypercholesterolemia; HoFH (ORPHA:391665)
Association type: UNKNOWN
Gene: CHD7
Disease: CHARGE SYNDROME (OMIM:214800)
Association type: MENDELIAN
Gene: CHD7
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: CHD7
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CHD7
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA (OMIM:612370)
Association type: MENDELIAN
Gene: CHD7
Disease: CHARGE syndrome; CHARGE association; Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome; Hall-Hittner syndrome (ORPHA:138)
Association type: UNKNOWN
Gene: CHD7
Disease: Omenn syndrome; Combined immunodeficiency with hypereosinophilia (ORPHA:39041)
Association type: UNKNOWN
Gene: CHD7
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: CHD7
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: DIAPH1
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA (OMIM:124900)
Association type: MENDELIAN
Gene: DIAPH1
Disease: SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
Association type: MENDELIAN
Gene: DIAPH1
Disease: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
Association type: UNKNOWN
Gene: DIAPH1
Disease: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome; DIAPH1-related sensorineural deafness-thrombocytopenia syndrome (ORPHA:494444)
Association type: UNKNOWN
Gene: DIAPH1
Disease: Moyamoya disease; Idiopathic Moyamoya disease (ORPHA:2573)
Association type: UNKNOWN
Gene: SLC46A1
Disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Association type: MENDELIAN
Gene: SLC46A1
Disease: Hereditary folate malabsorption; Congenital folate malabsorption (ORPHA:90045)
Association type: UNKNOWN
Gene: EDN1
Disease: QUESTION MARK EARS, ISOLATED (OMIM:612798)
Association type: MENDELIAN
Gene: EDN1
Disease: AURICULOCONDYLAR SYNDROME 3 (OMIM:615706)
Association type: MENDELIAN
Gene: EDN1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EDN1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EDN1
Disease: Auriculocondylar syndrome; Question mark ear syndrome (ORPHA:137888)
Association type: UNKNOWN
Gene: PRODH
Disease: SCHIZOPHRENIA 4 (OMIM:600850)
Association type: POLYGENIC
Gene: PRODH
Disease: HYPERPROLINEMIA, TYPE I (OMIM:239500)
Association type: MENDELIAN
Gene: PRODH
Disease: Hyperprolinemia type 1; Proline oxidase deficiency (ORPHA:419)
Association type: UNKNOWN
Gene: TPM1
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (OMIM:115196)
Association type: MENDELIAN