TaoMedAI/RareMedData huggingface dataset:
Gene: UBE2A
Disease: X-linked intellectual disability, Nascimento type; X-linked intellectual disability-nail dystrophy-seizures syndrome (ORPHA:163956)
Association type: UNKNOWN
Gene: HDAC6
Disease: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
Association type: MENDELIAN
Gene: HDAC6
Disease: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome (ORPHA:163966)
Association type: UNKNOWN
Gene: CCDC40
Disease: CILIARY DYSKINESIA, PRIMARY, 15 (OMIM:613808)
Association type: MENDELIAN
Gene: CCDC40
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: CCDC39
Disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Association type: MENDELIAN
Gene: CCDC39
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: ZMYND11
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Association type: MENDELIAN
Gene: ZMYND11
Disease:  (ORPHA:694308)
Association type: UNKNOWN
Gene: ZMYND11
Disease: 10p15 microdeletion syndrome; Del(10)(p15); Deletion 10p15 (ORPHA:687424)
Association type: UNKNOWN
Gene: EXOSC8
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Association type: MENDELIAN
Gene: EXOSC8
Disease: Pontocerebellar hypoplasia type 1; Norman disease; PCH1 (ORPHA:2254)
Association type: UNKNOWN
Gene: CDK6
Disease: MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
Association type: MENDELIAN
Gene: CDK6
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: TBC1D4
Disease: TYPE 2 DIABETES 5 (OMIM:616087)
Association type: POLYGENIC
Gene: PTCHD1
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 (OMIM:300830)
Association type: POLYGENIC
Gene: PTCHD1
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: GYPC
Disease: BLOOD GROUP, GERBICH SYSTEM (OMIM:616089)
Association type: MENDELIAN
Gene: GYPC
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: GYPC
Disease: Hereditary elliptocytosis; HE (ORPHA:288)
Association type: UNKNOWN
Gene: SEPSECS
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D (OMIM:613811)
Association type: MENDELIAN
Gene: SEPSECS
Disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Association type: UNKNOWN
Gene: SEPSECS
Disease: Progressive cerebello-cerebral atrophy; PCCA (ORPHA:247198)
Association type: UNKNOWN
Gene: ABO
Disease: BLOOD GROUP, ABO SYSTEM (OMIM:616093)
Association type: MENDELIAN
Gene: XK
Disease: MCLEOD SYNDROME (OMIM:300842)
Association type: MENDELIAN
Gene: XK
Disease: McLeod neuroacanthocytosis syndrome; MLS; X-linked McLeod syndrome (ORPHA:59306)
Association type: UNKNOWN
Gene: GPR143
Disease: NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
Association type: MENDELIAN
Gene: GPR143
Disease: ALBINISM, OCULAR, TYPE I (OMIM:300500)
Association type: MENDELIAN
Gene: GPR143
Disease: X-linked recessive ocular albinism; OA1; Ocular albinism type 1; Ocular albinism, Nettleship-Falls type; XLOA (ORPHA:54)
Association type: UNKNOWN
Gene: ADA
Disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY (OMIM:102700)
Association type: MENDELIAN
Gene: ADA
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency; ADA deficiency; SCID due to adenosine deaminase deficiency (ORPHA:277)
Association type: UNKNOWN
Gene: ADA
Disease: Omenn syndrome; Combined immunodeficiency with hypereosinophilia (ORPHA:39041)
Association type: UNKNOWN
Gene: DHFR
Disease: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (OMIM:613839)
Association type: MENDELIAN
Gene: DHFR
Disease: Constitutional megaloblastic anemia with severe neurologic disease; DHFR deficiency; Dihydrofolate reductase deficiency (ORPHA:319651)
Association type: UNKNOWN
Gene: MYOZ2
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Association type: MENDELIAN
Gene: ALDH3A2
Disease: SJOGREN-LARSSON SYNDROME (OMIM:270200)
Association type: MENDELIAN
Gene: ALDH3A2
Disease: Sjögren-Larsson syndrome; Fatty acid alcohol oxidoreductase deficiency (ORPHA:816)
Association type: UNKNOWN
Gene: CYP17A1
Disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY (OMIM:202110)
Association type: MENDELIAN
Gene: CYP17A1
Disease: 46,XY difference of sex development due to isolated 17,20-lyase deficiency; 46,XY disorder of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
Association type: UNKNOWN
Gene: CYP17A1
Disease: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; CAH due to 17-alpha-hydroxylase deficiency; Combined 17-hydroxylase/17,20-lyase deficiency (ORPHA:90793)
Association type: UNKNOWN
Gene: CLIC2
Disease: CHROMOSOME Xq28 DUPLICATION SYNDROME (OMIM:300815)
Association type: MENDELIAN
Gene: CLIC2
Disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Association type: UNKNOWN
Gene: SARS2
Disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Association type: MENDELIAN
Gene: SARS2
Disease: Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome; HUPRA syndrome (ORPHA:363694)
Association type: UNKNOWN
Gene: DNAAF2
Disease: CILIARY DYSKINESIA, PRIMARY, 10 (OMIM:612518)
Association type: MENDELIAN
Gene: DNAAF2
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: GIPC3
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15 (OMIM:601869)
Association type: MENDELIAN
Gene: GIPC3
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: DCXR
Disease: PENTOSURIA (OMIM:260800)
Association type: MENDELIAN
Gene: DCXR
Disease: Pentosuria; Essential pentosuria; Xylitol dehydrogenase deficiency (ORPHA:2843)
Association type: UNKNOWN
Gene: JAM3
Disease: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Association type: MENDELIAN
Gene: JAM3
Disease: Porencephaly-microcephaly-bilateral congenital cataract syndrome (ORPHA:306547)
Association type: UNKNOWN
Gene: PSENEN
Disease: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE (OMIM:613736)
Association type: MENDELIAN
Gene: PSENEN
Disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Association type: UNKNOWN
Gene: NFIA
Disease: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
Association type: MENDELIAN
Gene: NFIA
Disease: 1p31p32 microdeletion syndrome; Del(1)(p31p32); Monosomy 1p31p32 (ORPHA:401986)
Association type: UNKNOWN
Gene: HEXA
Disease: TAY-SACHS DISEASE (OMIM:272800)
Association type: MENDELIAN
Gene: HEXA
Disease: Tay-Sachs disease, infantile form; Acute infantile Tay-Sachs disease; Beta-hexosaminidase subunit alpha deficiency, infantile form; GM2 gangliosidosis, Tay-Sachs variant, infantile form; GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form; HEXA disorder, infantile form (ORPHA:309178)
Association type: UNKNOWN
Gene: HEXA
Disease: Tay-Sachs disease, adult form; Beta-hexosaminidase subunit alpha deficiency, adult  form; GM2 gangliosidosis, Tay-Sachs variant, adult form; GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form; HEXA disorder, adult form; Late-onset Tay-Sachs disease (ORPHA:309192)
Association type: UNKNOWN
Gene: HEXA
Disease: Tay-Sachs disease, juvenile form; Beta-hexosaminidase subunit alpha deficiency, juvenile form; GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form; GM2 gangliosidosis, Tay-Sachs variant, juvenile form; HEXA disorder, juvenile form; Subacute juvenile Tay-Sachs disease (ORPHA:309185)
Association type: UNKNOWN
Gene: FAS
Disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Association type: MENDELIAN
Gene: FAS
Disease: Autoimmune lymphoproliferative syndrome; ALPS; Canale-Smith syndrome (ORPHA:3261)
Association type: UNKNOWN
Gene: FAS
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: FAS
Disease: Vogt-Koyanagi-Harada disease; Uveomenigitic syndrome (ORPHA:3437)
Association type: UNKNOWN
Gene: CYP11A1
Disease: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE (OMIM:613743)
Association type: MENDELIAN
Gene: CYP11A1
Disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Association type: UNKNOWN
Gene: CYP11A1
Disease: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency; XY sex reversal-adrenal failure (ORPHA:168558)
Association type: UNKNOWN
Gene: F11
Disease: FACTOR XI DEFICIENCY (OMIM:612416)
Association type: MENDELIAN
Gene: F11
Disease: Congenital factor XI deficiency; Hemophilia C; PTA deficiency; Plasma thromboplastin antecedent deficiency; Rosenthal factor deficiency; Rosenthal syndrome (ORPHA:329)
Association type: UNKNOWN
Gene: LGI1
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Association type: MENDELIAN
Gene: LGI1
Disease: Autosomal dominant epilepsy with auditory features; ADEAF; ADLTE; ADPEAF; Autosomal dominant lateral temporal lobe epilepsy; Partial epilepsy with auditory aura; Partial epilepsy with auditory features (ORPHA:101046)
Association type: UNKNOWN
Gene: MICAL1
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Association type: MENDELIAN
Gene: PLIN4
Disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Association type: MENDELIAN
Gene: PLIN4
Disease:  (ORPHA:696063)
Association type: UNKNOWN
Gene: PRG4
Disease: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (OMIM:208250)
Association type: MENDELIAN
Gene: PRG4
Disease: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome; Arthropathy-camptodactyly syndrome; CACP syndrome; Pericarditis-arthropathy-camptodactyly syndrome (ORPHA:2848)
Association type: UNKNOWN
Gene: AHCY
Disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Association type: MENDELIAN
Gene: AHCY
Disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Association type: UNKNOWN
Gene: SLC6A19
Disease: HARTNUP DISORDER (OMIM:234500)
Association type: MENDELIAN
Gene: SLC6A19
Disease: Hartnup disease; Aminoaciduria, Hartnup type; Hartnup disorder (ORPHA:2116)
Association type: UNKNOWN
Gene: SLC6A19
Disease: Iminoglycinuria (ORPHA:42062)
Association type: UNKNOWN
Gene: KLKB1
Disease: PREKALLIKREIN DEFICIENCY (OMIM:612423)
Association type: MENDELIAN
Gene: KLKB1
Disease: Congenital prekallikrein deficiency (ORPHA:749)
Association type: UNKNOWN
Gene: FADD
Disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Association type: MENDELIAN
Gene: FADD
Disease: Oculootodental syndrome; OOD (ORPHA:99806)
Association type: UNKNOWN
Gene: FADD
Disease: FADD-related immunodeficiency (ORPHA:306550)
Association type: UNKNOWN
Gene: MAP3K1
Disease: 46,XY SEX REVERSAL 6 (OMIM:613762)
Association type: MENDELIAN
Gene: MAP3K1
Disease: 46,XY partial gonadal dysgenesis; 46,XY PGD; 46,XY partial testicular dysgenesis (ORPHA:251510)
Association type: UNKNOWN
Gene: MAP3K1
Disease: 46,XY complete gonadal dysgenesis; 46,XY CGD; 46,XY pure gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Association type: UNKNOWN
Gene: DARS2
Disease: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (OMIM:611105)
Association type: MENDELIAN
Gene: DARS2
Disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome; LBSL; Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome (ORPHA:137898)
Association type: UNKNOWN
Gene: PRICKLE1
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Association type: MENDELIAN
Gene: PRICKLE1
Disease: Progressive myoclonic epilepsy type 1; EPM1; Progressive myoclonus epilepsy type 1; ULD; Unverricht-Lundborg disease (ORPHA:308)
Association type: UNKNOWN
Gene: DNAI2
Disease: CILIARY DYSKINESIA, PRIMARY, 9 (OMIM:612444)
Association type: MENDELIAN
Gene: DNAI2
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: ARMS2
Disease: MACULAR DEGENERATION, AGE-RELATED, 8 (OMIM:613778)
Association type: POLYGENIC
Gene: C6
Disease: COMPLEMENT COMPONENT 6 DEFICIENCY (OMIM:612446)
Association type: MENDELIAN
Gene: C6
Disease: Immunodeficiency due to a late component of complement deficiency; Immunodeficiency due to C5 to C9 component complement deficiency; Terminal complement pathway deficiency (ORPHA:169150)
Association type: UNKNOWN
Gene: C1S
Disease: COMPLEMENT COMPONENT C1s DEFICIENCY (OMIM:613783)
Association type: MENDELIAN
Gene: C1S
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Association type: MENDELIAN
Gene: C1S
Disease: Periodontal Ehlers-Danlos syndrome; EDS VIII; Ehlers-Danlos syndrome type 8; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; pEDS (ORPHA:75392)
Association type: UNKNOWN
Gene: C1S
Disease: Immunodeficiency due to a classical component pathway complement deficiency; Immunodeficiency due to C1, C4, or C2 component complement deficiency; Immunodeficiency due to an early component of complement deficiency (ORPHA:169147)
Association type: UNKNOWN
Gene: C8B
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II (OMIM:613789)
Association type: MENDELIAN
Gene: C8B
Disease: Immunodeficiency due to a late component of complement deficiency; Immunodeficiency due to C5 to C9 component complement deficiency; Terminal complement pathway deficiency (ORPHA:169150)
Association type: UNKNOWN
Gene: ACAD9
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (OMIM:611126)
Association type: MENDELIAN
Gene: ACAD9
Disease: Acyl-CoA dehydrogenase 9 deficiency; ACAD9 deficiency (ORPHA:99901)
Association type: UNKNOWN
Gene: SLC35A2
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Association type: MENDELIAN
Gene: SLC35A2
Disease: SLC35A2-CDG; CDG syndrome type IIm; CDG-IIm; CDG2M; Congenital disorder of glycosylation type 2m; Congenital disorder of glycosylation type IIm (ORPHA:356961)
Association type: UNKNOWN
Gene: SLC35A2
Disease: Isolated focal cortical dysplasia type Ia; FCD type Ia (ORPHA:268973)
Association type: UNKNOWN
Gene: C8A
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I (OMIM:613790)
Association type: MENDELIAN
Gene: C8A
Disease: Immunodeficiency due to a late component of complement deficiency; Immunodeficiency due to C5 to C9 component complement deficiency; Terminal complement pathway deficiency (ORPHA:169150)
Association type: UNKNOWN
Gene: MASP2
Disease: MASP2 DEFICIENCY (OMIM:613791)
Association type: MENDELIAN
Gene: MASP2
Disease: Immunodeficiency due to MASP-2 deficiency (ORPHA:331187)
Association type: UNKNOWN
Gene: CD55
Disease: BLOOD GROUP, CROMER SYSTEM (OMIM:613793)
Association type: MENDELIAN
Gene: CD55
Disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Association type: MENDELIAN
Gene: CD55
Disease: Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome; CD55 deficiency; CHAPLE syndrome (ORPHA:566175)
Association type: UNKNOWN
Gene: GALC
Disease: KRABBE DISEASE (OMIM:245200)
Association type: MENDELIAN
Gene: GALC
Disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Association type: UNKNOWN
Gene: GALC
Disease: Adult Krabbe disease (ORPHA:206448)
Association type: UNKNOWN
Gene: GALC
Disease: Infantile Krabbe disease; Krabbe disease, classic form; Krabbe disease, early-onset (ORPHA:206436)
Association type: UNKNOWN
Gene: PRX
Disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Association type: MENDELIAN
Gene: PRX
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Association type: MENDELIAN
Gene: PRX
Disease: Charcot-Marie-Tooth disease type 4F; CMT4F (ORPHA:99952)
Association type: UNKNOWN
Gene: PRX
Disease: Dejerine-Sottas syndrome; Charcot-Marie-Tooth disease type 3; HMSN 3; HMSN III; Hereditary motor and sensory neuropathy type 3; Hereditary motor and sensory neuropathy type III (ORPHA:64748)
Association type: UNKNOWN
Gene: APCDD1
Disease: HYPOTRICHOSIS 1 (OMIM:605389)
Association type: MENDELIAN
Gene: APCDD1
Disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Association type: UNKNOWN
Gene: NT5E
Disease: CALCIFICATION OF JOINTS AND ARTERIES (OMIM:211800)
Association type: MENDELIAN
Gene: NT5E
Disease: Hereditary arterial and articular multiple calcification syndrome; CALJA; Calcification of joints and arteries (ORPHA:289601)
Association type: UNKNOWN
Gene: CHMP4B
Disease: CATARACT 31, MULTIPLE TYPES (OMIM:605387)
Association type: MENDELIAN
Gene: CHMP4B
Disease: Early-onset posterior subcapsular cataract (ORPHA:441447)
Association type: UNKNOWN
Gene: CHMP4B
Disease: Early-onset posterior polar cataract (ORPHA:98993)
Association type: UNKNOWN
Gene: NOS2
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: ICAM1
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: CHRNB2
Disease: EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 (OMIM:605375)
Association type: MENDELIAN
Gene: CHRNB2
Disease: Autosomal dominant nocturnal frontal lobe epilepsy; ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy (ORPHA:98784)
Association type: UNKNOWN
Gene: IRX5
Disease: HAMAMY SYNDROME (OMIM:611174)
Association type: MENDELIAN
Gene: IRX5
Disease: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome; Hamamy syndrome (ORPHA:314555)
Association type: UNKNOWN
Gene: HR
Disease: ATRICHIA WITH PAPULAR LESIONS (OMIM:209500)
Association type: MENDELIAN
Gene: HR
Disease: ALOPECIA UNIVERSALIS CONGENITA (OMIM:203655)
Association type: MENDELIAN
Gene: HR
Disease: Atrichia with papular lesions; Papular atrichia (ORPHA:86819)
Association type: UNKNOWN
Gene: HR
Disease: Alopecia universalis (ORPHA:701)
Association type: UNKNOWN
Gene: HR
Disease: Marie Unna hereditary hypotrichosis; Hypotrichosis, Marie Unna type; MUHH; Marie Unna congenital hypotrichosis (ORPHA:444)
Association type: UNKNOWN
Gene: MMUT
Disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Association type: MENDELIAN
Gene: MMUT
Disease: Vitamin B12-unresponsive methylmalonic acidemia type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic aciduria type mut0 (ORPHA:289916)
Association type: UNKNOWN
Gene: MMUT
Disease: Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic aciduria type mut- (ORPHA:79312)
Association type: UNKNOWN
Gene: ATP13A2
Disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Association type: MENDELIAN
Gene: ATP13A2
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Association type: MENDELIAN
Gene: ATP13A2
Disease: Autosomal recessive spastic paraplegia type 78; SPG78 (ORPHA:513436)
Association type: UNKNOWN
Gene: ATP13A2
Disease: Kufor-Rakeb syndrome; PARK9 (ORPHA:306674)
Association type: UNKNOWN
Gene: ATP13A2
Disease: CLN12 disease; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis type 12 (ORPHA:314632)
Association type: UNKNOWN
Gene: PRKCG
Disease: SPINOCEREBELLAR ATAXIA 14 (OMIM:605361)
Association type: MENDELIAN
Gene: PRKCG
Disease: Spinocerebellar ataxia type 14; SCA14 (ORPHA:98763)
Association type: UNKNOWN
Gene: COG8
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Association type: MENDELIAN
Gene: COG8
Disease: COG8-CDG; CDG syndrome type IIh; CDG-IIh; CDG2H; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type 2h; Congenital disorder of glycosylation type IIh (ORPHA:95428)
Association type: UNKNOWN
Gene: HSD17B3
Disease: 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY (OMIM:264300)
Association type: MENDELIAN
Gene: HSD17B3
Disease: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketoreductase deficiency; 17-ketosteroidreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Association type: UNKNOWN
Gene: TULP3
Disease: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS (OMIM:619902)
Association type: MENDELIAN
Gene: TIAM1
Disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Association type: MENDELIAN
Gene: TIAM1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: KCNC2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103 (OMIM:619913)
Association type: MENDELIAN
Gene: KCNC2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: CD28
Disease:  (OMIM:620901)
Association type: MENDELIAN
Gene: CD28
Disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Association type: UNKNOWN
Gene: CD28
Disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Association type: UNKNOWN
Gene: ATP2B1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 (OMIM:619910)
Association type: MENDELIAN
Gene: ATP2B1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: POU3F4
Disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Association type: MENDELIAN
Gene: POU3F4
Disease: Rare mitochondrial non-syndromic sensorineural deafness; Isolated mitochondrial neurosensory deafness; Isolated mitochondrial neurosensory hearing loss; Isolated mitochondrial sensorineural deafness; Isolated mitochondrial sensorineural hearing loss; Mitochondrial non-syndromic neurosensory deafness; Mitochondrial non-syndromic neurosensory hearing loss; Mitochondrial non-syndromic sensorineural hearing loss (ORPHA:90641)
Association type: UNKNOWN
Gene: POU3F4
Disease: Xq21 microdeletion syndrome; Ayazi syndrome; Del(X)(q21); Monosomy Xq21 (ORPHA:1435)
Association type: UNKNOWN
Gene: MLC1
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Association type: MENDELIAN
Gene: MLC1
Disease: Megalencephalic leukoencephalopathy with subcortical cysts; MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome (ORPHA:2478)
Association type: UNKNOWN
Gene: PTPRC
Disease: IMMUNODEFICIENCY 105 (OMIM:619924)
Association type: MENDELIAN
Gene: PTPRC
Disease: T-B+ severe combined immunodeficiency due to CD45 deficiency; T-B+ SCID due to CD45 deficiency (ORPHA:169157)
Association type: UNKNOWN
Gene: FICD
Disease:  (OMIM:620911)
Association type: MENDELIAN
Gene: GRIA1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 (OMIM:619927)
Association type: MENDELIAN
Gene: GRIA1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 76 (OMIM:619931)
Association type: MENDELIAN
Gene: GRIA1
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: GRIA1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: GLRA1
Disease: HYPEREKPLEXIA 1 (OMIM:149400)
Association type: MENDELIAN