TaoMedAI/RareMedData huggingface dataset:
Gene: GP6
Disease: BLEEDING DISORDER, PLATELET-TYPE, 11 (OMIM:614201)
Association type: MENDELIAN
Gene: GP6
Disease: Bleeding diathesis due to glycoprotein VI deficiency (ORPHA:98885)
Association type: UNKNOWN
Gene: SLC9A3
Disease: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL (OMIM:616868)
Association type: MENDELIAN
Gene: SLC9A3
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: SLC9A3
Disease: Congenital sodium diarrhea; CSD; NHE3 deficiency; Na-H exchanger 3 deficiency; Non-syndromic congenital sodium diarrhea; Sodium/proton exchanger-3 deficiency (ORPHA:103908)
Association type: UNKNOWN
Gene: PGAP2
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Association type: MENDELIAN
Gene: PGAP2
Disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Association type: UNKNOWN
Gene: IL36RN
Disease: PSORIASIS 14, PUSTULAR (OMIM:614204)
Association type: MENDELIAN
Gene: IL36RN
Disease: Generalized pustular psoriasis; GPP (ORPHA:247353)
Association type: UNKNOWN
Gene: IL36RN
Disease: Pustulosis palmaris et plantaris; LPP; Localized pustular psoriasis; PPP; Palmoplantar pustulosis (ORPHA:163927)
Association type: UNKNOWN
Gene: IL36RN
Disease: Acrodermatitis continua of Hallopeau (ORPHA:163931)
Association type: UNKNOWN
Gene: IL36RN
Disease: DITRA; Deficiency of IL-36R antagonist; Deficiency of IL-36Ra (ORPHA:404546)
Association type: UNKNOWN
Gene: TRIP4
Disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Association type: MENDELIAN
Gene: TRIP4
Disease: MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE (OMIM:617066)
Association type: MENDELIAN
Gene: TRIP4
Disease: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome; Congenital muscular dystrophy, Davignon-Chauveau type (ORPHA:486815)
Association type: UNKNOWN
Gene: TRIP4
Disease: Prenatal-onset spinal muscular atrophy with congenital bone fractures; SMABF (ORPHA:486811)
Association type: UNKNOWN
Gene: CCDC8
Disease: THREE M SYNDROME 3 (OMIM:614205)
Association type: MENDELIAN
Gene: CCDC8
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CCDC8
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CCDC8
Disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Association type: UNKNOWN
Gene: DSE
Disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
Association type: MENDELIAN
Gene: DSE
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DSE
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DSE
Disease: Musculocontractural Ehlers-Danlos syndrome; Adducted thumb-clubfoot syndrome; Distal arthrogryposis with peculiar facies and hydronephrosis; Dündar syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural EDS; mcEDS (ORPHA:2953)
Association type: UNKNOWN
Gene: B9D1
Disease: MECKEL SYNDROME, TYPE 9 (OMIM:614209)
Association type: MENDELIAN
Gene: B9D1
Disease: JOUBERT SYNDROME 27 (OMIM:617120)
Association type: MENDELIAN
Gene: B9D1
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: B9D1
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: DCX
Disease: LISSENCEPHALY, X-LINKED, 1 (OMIM:300067)
Association type: MENDELIAN
Gene: DCX
Disease: Lissencephaly type 1 due to doublecortin gene mutation; X-linked lissencephaly type 1 (ORPHA:2148)
Association type: UNKNOWN
Gene: DCX
Disease: Subcortical band heterotopia; Subcortical laminar heterotopia (ORPHA:99796)
Association type: UNKNOWN
Gene: SMPX
Disease: DEAFNESS, X-LINKED 4 (OMIM:300066)
Association type: MENDELIAN
Gene: SMPX
Disease: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED (OMIM:301075)
Association type: MENDELIAN
Gene: SMPX
Disease: Rare X-linked non-syndromic sensorineural deafness type DFN; X-linked isolated neurosensory deafness type DFN; X-linked isolated neurosensory hearing loss type DFN; X-linked isolated sensorineural deafness type DFN; X-linked isolated sensorineural hearing loss type DFN; X-linked non-syndromic neurosensory deafness type DFN; X-linked non-syndromic neurosensory hearing loss type DFN; X-linked non-syndromic sensorineural hearing loss type DFN (ORPHA:90625)
Association type: UNKNOWN
Gene: SMPX
Disease:  (ORPHA:700163)
Association type: UNKNOWN
Gene: SYNE4
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 76 (OMIM:615540)
Association type: MENDELIAN
Gene: SYNE4
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: DDX41
Disease: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO (OMIM:616871)
Association type: POLYGENIC
Gene: DDX41
Disease: DDX41-related hematologic malignancy predisposition syndrome (ORPHA:488647)
Association type: UNKNOWN
Gene: TTI2
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Association type: MENDELIAN
Gene: TTI2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TTI2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TTI2
Disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Association type: UNKNOWN
Gene: ERMARD
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 6 (OMIM:615544)
Association type: MENDELIAN
Gene: ERMARD
Disease: 6q terminal deletion syndrome (ORPHA:75857)
Association type: UNKNOWN
Gene: ERMARD
Disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Association type: UNKNOWN
Gene: EMC1
Disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
Association type: MENDELIAN
Gene: EMC1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: EMC1
Disease: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome (ORPHA:480898)
Association type: UNKNOWN
Gene: PAX5
Disease: LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 (OMIM:615545)
Association type: POLYGENIC
Gene: PAX5
Disease: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) (ORPHA:641372)
Association type: UNKNOWN
Gene: GATA4
Disease: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Association type: MENDELIAN
Gene: GATA4
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: GATA4
Disease: VENTRICULAR SEPTAL DEFECT 1 (OMIM:614429)
Association type: MENDELIAN
Gene: GATA4
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 4 (OMIM:614430)
Association type: MENDELIAN
Gene: GATA4
Disease: ATRIAL SEPTAL DEFECT 2 (OMIM:607941)
Association type: MENDELIAN
Gene: GATA4
Disease: Complete atrioventricular septal defect with ventricular hypoplasia; CAVC with ventricular hypoplasia; Complete AVSD with ventricular hypoplasia; Complete atrioventricular canal defect with ventricular hypoplasia; Complete atrioventricular septal defect with ventricular imbalance; Unbalanced complete atrioventricular canal (ORPHA:99067)
Association type: UNKNOWN
Gene: GATA4
Disease: Complete atrioventricular septal defect-tetralogy of Fallot; CAVC-tetralogy of Fallot; Complete AVSD-tetralogy of Fallot; Complete atrioventricular canal defect-tetralogy of Fallot (ORPHA:99068)
Association type: UNKNOWN
Gene: GATA4
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: GATA4
Disease: 46,XY partial gonadal dysgenesis; 46,XY PGD; 46,XY partial testicular dysgenesis (ORPHA:251510)
Association type: UNKNOWN
Gene: GATA4
Disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Association type: UNKNOWN
Gene: GATA4
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: GATA4
Disease: 8p23.1 microdeletion syndrome; Del(8)(p23.1); Monosomy 8p23.1 (ORPHA:251071)
Association type: UNKNOWN
Gene: GATA4
Disease: Partial atrioventricular septal defect with ventricular hypoplasia; PAVC with ventricular hypoplasia; Partial AVSD with ventricular hypoplasia; Partial atrioventricular canal defect with ventricular hypoplasia; Partial atrioventricular septal defect with ventricular imbalance; Unbalanced partial atrioventricular canal (ORPHA:576232)
Association type: UNKNOWN
Gene: IKZF1
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 13 (OMIM:616873)
Association type: MENDELIAN
Gene: IKZF1
Disease:  (ORPHA:695172)
Association type: UNKNOWN
Gene: IKZF1
Disease: Stevens-Johnson syndrome; Dermatostomatitis, Stevens Johnson type (ORPHA:36426)
Association type: UNKNOWN
Gene: IKZF1
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: IKZF1
Disease: Pancytopenia due to IKZF1 mutations; CID due to IKAROS deficiency; Combined immunodeficiency due to IKAROS deficiency (ORPHA:317473)
Association type: UNKNOWN
Gene: IKZF1
Disease:  (ORPHA:697414)
Association type: UNKNOWN
Gene: SCN11A
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII (OMIM:615548)
Association type: MENDELIAN
Gene: SCN11A
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 3 (OMIM:615552)
Association type: MENDELIAN
Gene: SCN11A
Disease: Hereditary sodium channelopathy-related small fibers neuropathy (ORPHA:306577)
Association type: UNKNOWN
Gene: SCN11A
Disease: Hereditary sensory and autonomic neuropathy type 7; CIP with hyperhidrosis and gastrointestinal dysfunction; Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction; HSAN with hyperhidrosis and gastrointestinal dysfunction; HSAN7; Hereditary sensory and autonomic neuropathy type VII; Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction (ORPHA:391397)
Association type: UNKNOWN
Gene: SCN11A
Disease: Familial episodic pain syndrome with predominantly lower limb involvement (ORPHA:391392)
Association type: UNKNOWN
Gene: SCN11A
Disease: Congenital insensitivity to pain-anosmia-neuropathic arthropathy; SCN9A-related congenital insensitivity to pain (ORPHA:88642)
Association type: UNKNOWN
Gene: SCN11A
Disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Association type: UNKNOWN
Gene: SCN11A
Disease: Paroxysmal extreme pain disorder; Familial rectal pain (ORPHA:46348)
Association type: UNKNOWN
Gene: TANGO2
Disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Association type: MENDELIAN
Gene: TANGO2
Disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Association type: UNKNOWN
Gene: DOCK6
Disease: ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Association type: MENDELIAN
Gene: DOCK6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DOCK6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DOCK6
Disease: Adams-Oliver syndrome; AOS; Aplasia cutis congenita with distal limb anomalies; Aplasia cutis congenita with terminal transverse limb defects; Congenital scalp defects with distal limb anomalies; Congenital scalp defects with distal limb reduction anomalies (ORPHA:974)
Association type: UNKNOWN
Gene: ALOXE3
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Association type: MENDELIAN
Gene: ALOXE3
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 (OMIM:606545)
Association type: MENDELIAN
Gene: ALOXE3
Disease: Lamellar ichthyosis; LI (ORPHA:313)
Association type: UNKNOWN
Gene: ALOXE3
Disease: Congenital ichthyosiform erythroderma; CIE; Erythrodermic ichthyosis; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Association type: UNKNOWN
Gene: ALOXE3
Disease: Self-improving collodion baby; SHCB; SICI; Self-healing collodion baby; Self-improving congenital ichthyosis (ORPHA:281122)
Association type: UNKNOWN
Gene: ALOX12B
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 (OMIM:242100)
Association type: MENDELIAN
Gene: ALOX12B
Disease: Lamellar ichthyosis; LI (ORPHA:313)
Association type: UNKNOWN
Gene: ALOX12B
Disease: Congenital ichthyosiform erythroderma; CIE; Erythrodermic ichthyosis; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Association type: UNKNOWN
Gene: ALOX12B
Disease: Self-improving collodion baby; SHCB; SICI; Self-healing collodion baby; Self-improving congenital ichthyosis (ORPHA:281122)
Association type: UNKNOWN
Gene: SCN10A
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 2 (OMIM:615551)
Association type: MENDELIAN
Gene: SCN10A
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: SCN10A
Disease: Hereditary sodium channelopathy-related small fibers neuropathy (ORPHA:306577)
Association type: UNKNOWN
Gene: SCN10A
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: SCN10A
Disease: Congenital insensitivity to pain-anosmia-neuropathic arthropathy; SCN9A-related congenital insensitivity to pain (ORPHA:88642)
Association type: UNKNOWN
Gene: SCN10A
Disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Association type: UNKNOWN
Gene: SCN10A
Disease: Paroxysmal extreme pain disorder; Familial rectal pain (ORPHA:46348)
Association type: UNKNOWN
Gene: PER3
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (OMIM:616882)
Association type: MENDELIAN
Gene: PER3
Disease: Familial advanced sleep-phase syndrome; FASPS (ORPHA:164736)
Association type: UNKNOWN
Gene: HIKESHI
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
Association type: MENDELIAN
Gene: HIKESHI
Disease: C11ORF73-related autosomal recessive hypomyelinating leukodystrophy; C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy; Hypomyelinating leukodystrophy due to hikeshi deficiency (ORPHA:495844)
Association type: UNKNOWN
Gene: RPL15
Disease: DIAMOND-BLACKFAN ANEMIA 12 (OMIM:615550)
Association type: MENDELIAN
Gene: RPL15
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: PRLR
Disease: HYPERPROLACTINEMIA (OMIM:615555)
Association type: MENDELIAN
Gene: PRLR
Disease: MULTIPLE FIBROADENOMAS OF THE BREAST (OMIM:615554)
Association type: MENDELIAN
Gene: PRLR
Disease: Familial hyperprolactinemia; Familial isolated prolactin receptor deficiency (ORPHA:397685)
Association type: UNKNOWN
Gene: IGFBP7
Disease: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS (OMIM:614224)
Association type: MENDELIAN
Gene: IGFBP7
Disease: Familial retinal arterial macroaneurysm; FRAM; Retinal arterial macroaneurysm and supravalvular pulmonic stenosis (ORPHA:284247)
Association type: UNKNOWN
Gene: RAB3GAP2
Disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Association type: MENDELIAN
Gene: RAB3GAP2
Disease: MARTSOLF SYNDROME (OMIM:212720)
Association type: MENDELIAN
Gene: RAB3GAP2
Disease: Autosomal recessive spastic paraplegia type 69; SPG69 (ORPHA:401830)
Association type: UNKNOWN
Gene: RAB3GAP2
Disease: Micro syndrome; WARBM; Warburg micro syndrome (ORPHA:2510)
Association type: UNKNOWN
Gene: RAB3GAP2
Disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Association type: UNKNOWN
Gene: SLC35A3
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
Association type: MENDELIAN
Gene: SLC35A3
Disease: Autism spectrum disorder-epilepsy-arthrogryposis syndrome; SLC35A3-CDG (ORPHA:370943)
Association type: UNKNOWN
Gene: RAB18
Disease: WARBURG MICRO SYNDROME 3 (OMIM:614222)
Association type: MENDELIAN
Gene: RAB18
Disease: Micro syndrome; WARBM; Warburg micro syndrome (ORPHA:2510)
Association type: UNKNOWN
Gene: PRKCD
Disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III (OMIM:615559)
Association type: MENDELIAN
Gene: PRKCD
Disease: EBV-induced lymphoproliferative disease due to PRKCD deficiency; EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency (ORPHA:664711)
Association type: UNKNOWN
Gene: DYNC1H1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O (OMIM:614228)
Association type: MENDELIAN
Gene: DYNC1H1
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT (OMIM:158600)
Association type: MENDELIAN
Gene: DYNC1H1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
Association type: MENDELIAN
Gene: DYNC1H1
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: DYNC1H1
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2O; CMT2O (ORPHA:284232)
Association type: UNKNOWN
Gene: DYNC1H1
Disease: DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy; DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy; SMALED1 (ORPHA:209341)
Association type: UNKNOWN
Gene: SYT14
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 (OMIM:614229)
Association type: MENDELIAN
Gene: SYT14
Disease: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome; Autosomal recessive spinocerebellar ataxia type 11; SCAR11 (ORPHA:284271)
Association type: UNKNOWN
Gene: DHX37
Disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Association type: MENDELIAN
Gene: DHX37
Disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Association type: MENDELIAN
Gene: DHX37
Disease: 46,XY partial gonadal dysgenesis; 46,XY PGD; 46,XY partial testicular dysgenesis (ORPHA:251510)
Association type: UNKNOWN
Gene: DHX37
Disease: 46,XY complete gonadal dysgenesis; 46,XY CGD; 46,XY pure gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Association type: UNKNOWN
Gene: DHX37
Disease: Testicular regression syndrome; ETRS; Embryonic testicular regression syndrome; TRS; Vanishing testes syndrome; Vanishing testis syndrome; XY gonadal agenesis syndrome (ORPHA:983)
Association type: UNKNOWN
Gene: CDON
Disease: HOLOPROSENCEPHALY 11 (OMIM:614226)
Association type: MENDELIAN
Gene: CDON
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: CDON
Disease: Pituitary stalk interruption syndrome; Ectopic neurohypophysis; PSIS (ORPHA:95496)
Association type: UNKNOWN
Gene: CDON
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: CDON
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: CDON
Disease: Midline interhemispheric variant of holoprosencephaly; MIH; MIH type HPE; MIHF; MIHV; Middle interhemispheric fusion variant; Middle interhemispheric variant of holoprosencephaly; Syntelencephaly (ORPHA:93926)
Association type: UNKNOWN
Gene: CDON
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: CDON
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: APOB
Disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
Association type: MENDELIAN
Gene: APOB
Disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 2 (OMIM:144010)
Association type: MENDELIAN
Gene: APOB
Disease: Homozygous familial hypercholesterolemia; HoFH (ORPHA:391665)
Association type: UNKNOWN
Gene: DVL3
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 (OMIM:616894)
Association type: MENDELIAN
Gene: DVL3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DVL3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DVL3
Disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Association type: UNKNOWN
Gene: IER3IP1
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Association type: MENDELIAN
Gene: IER3IP1
Disease: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (ORPHA:306558)
Association type: UNKNOWN
Gene: NUP205
Disease: NEPHROTIC SYNDROME, TYPE 13 (OMIM:616893)
Association type: MENDELIAN
Gene: NUP205
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: NUP93
Disease: NEPHROTIC SYNDROME, TYPE 12 (OMIM:616892)
Association type: MENDELIAN
Gene: NUP93
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: PAX1
Disease: OTOFACIOCERVICAL SYNDROME 2 (OMIM:615560)
Association type: MENDELIAN
Gene: PAX1
Disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Association type: UNKNOWN
Gene: TAPT1
Disease: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
Association type: MENDELIAN
Gene: TAPT1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: TAPT1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TAPT1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TAPT1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: TAPT1
Disease: Complex lethal osteochondrodysplasia; Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type (ORPHA:457378)
Association type: UNKNOWN
Gene: NEK2
Disease: RETINITIS PIGMENTOSA 67 (OMIM:615565)
Association type: MENDELIAN
Gene: NEK2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NEK2
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: NR0B1
Disease: 46,XY SEX REVERSAL 2 (OMIM:300018)
Association type: MENDELIAN
Gene: NR0B1
Disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Association type: MENDELIAN
Gene: NR0B1
Disease: 46,XX testicular difference of sex development; 46,XX testicular DSD; 46,XX testicular disorder of sex development; De la Chapelle syndrome; XX, male syndrome (ORPHA:393)
Association type: UNKNOWN
Gene: NR0B1
Disease: 46,XY partial gonadal dysgenesis; 46,XY PGD; 46,XY partial testicular dysgenesis (ORPHA:251510)
Association type: UNKNOWN
Gene: NR0B1
Disease: 46,XY complete gonadal dysgenesis; 46,XY CGD; 46,XY pure gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Association type: UNKNOWN
Gene: NR0B1
Disease: X-linked adrenal hypoplasia congenita; X-linked AHC; X-linked congenital adrenal hypoplasia (ORPHA:95702)
Association type: UNKNOWN
Gene: TNNI3
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (OMIM:115210)
Association type: MENDELIAN
Gene: TNNI3
Disease: CARDIOMYOPATHY, DILATED, 2A (OMIM:611880)
Association type: MENDELIAN
Gene: TNNI3
Disease: CARDIOMYOPATHY, DILATED, 1FF (OMIM:613286)
Association type: MENDELIAN
Gene: TNNI3
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 (OMIM:613690)
Association type: MENDELIAN
Gene: TNNI3
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: TNNI3
Disease: Familial isolated restrictive cardiomyopathy; Familial or idiopathic restrictive cardiomyopathy (ORPHA:75249)
Association type: UNKNOWN
Gene: COQ8B
Disease: NEPHROTIC SYNDROME, TYPE 9 (OMIM:615573)
Association type: MENDELIAN
Gene: COQ8B
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN