TaoMedAI/RareMedData huggingface dataset:
Gene: TDO2
Disease: Hypertryptophanemia (ORPHA:2224)
Association type: UNKNOWN
Gene: APOL1
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO (OMIM:612551)
Association type: POLYGENIC
Gene: APOL1
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: TDRD7
Disease: CATARACT 36 (OMIM:613887)
Association type: MENDELIAN
Gene: ADIPOQ
Disease: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 (OMIM:612556)
Association type: MENDELIAN
Gene: TBX18
Disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 (OMIM:143400)
Association type: MENDELIAN
Gene: ZDHHC9
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
Association type: MENDELIAN
Gene: ZDHHC9
Disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Association type: UNKNOWN
Gene: UGT2B17
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12 (OMIM:612560)
Association type: POLYGENIC
Gene: RPL11
Disease: DIAMOND-BLACKFAN ANEMIA 7 (OMIM:612562)
Association type: MENDELIAN
Gene: RPL11
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: RPL5
Disease: DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
Association type: MENDELIAN
Gene: RPL5
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: RPS7
Disease: DIAMOND-BLACKFAN ANEMIA 8 (OMIM:612563)
Association type: MENDELIAN
Gene: RPS7
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: SRY
Disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Association type: MENDELIAN
Gene: SRY
Disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Association type: MENDELIAN
Gene: SRY
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: SRY
Disease: 46,XY partial gonadal dysgenesis; 46,XY PGD; 46,XY partial testicular dysgenesis (ORPHA:251510)
Association type: UNKNOWN
Gene: SRY
Disease: 46,XY complete gonadal dysgenesis; 46,XY CGD; 46,XY pure gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Association type: UNKNOWN
Gene: SRY
Disease: 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD; 46,XX ovotesticular disorder of sex development (ORPHA:2138)
Association type: UNKNOWN
Gene: SRY
Disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD; 45,X0/46,XY mixed gonadal dysgenesis (ORPHA:1772)
Association type: UNKNOWN
Gene: TEX11
Disease: SPERMATOGENIC FAILURE, X-LINKED, 2 (OMIM:309120)
Association type: MENDELIAN
Gene: TEX11
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: TBL1Y
Disease: DEAFNESS, Y-LINKED 2 (OMIM:400047)
Association type: MENDELIAN
Gene: DLAT
Disease: PYRUVATE DEHYDROGENASE E2 DEFICIENCY (OMIM:245348)
Association type: MENDELIAN
Gene: DLAT
Disease: Pyruvate dehydrogenase E2 deficiency; Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency; Pyruvate dehydrogenase complex component E2 deficiency (ORPHA:79244)
Association type: UNKNOWN
Gene: PDHX
Disease: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY (OMIM:245349)
Association type: MENDELIAN
Gene: PDHX
Disease: Pyruvate dehydrogenase E3-binding protein deficiency; 2-oxoglutarate complex deficiency; Branched chain alpha-ketoacid dehydrogenase complex deficiency; Diaphorase deficiency; Dihydrolipoyl dehydrogenase deficiency; Glycine cleavage system L protein deficiency; Lipoamide dehydrogenase deficiency; Pyruvate dehydrogenase complex component E3 deficiency; Pyruvate dehydrogenase protein X component deficiency (ORPHA:255182)
Association type: UNKNOWN
Gene: CSF2RA
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4 (OMIM:300770)
Association type: MENDELIAN
Gene: CSF2RA
Disease: Hereditary pulmonary alveolar proteinosis; Congenital PAP; Congenital pulmonary alveolar proteinosis (ORPHA:264675)
Association type: UNKNOWN
Gene: CDH15
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 (OMIM:612580)
Association type: MENDELIAN
Gene: CDH15
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: PBRM1
Disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Association type: MENDELIAN
Gene: PBRM1
Disease: Clear cell papillary renal cell carcinoma (ORPHA:404511)
Association type: UNKNOWN
Gene: OGG1
Disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Association type: MENDELIAN
Gene: OGG1
Disease: Hereditary clear cell renal cell carcinoma; Hereditary clear cell renal cell adenocarcinoma (ORPHA:422526)
Association type: UNKNOWN
Gene: RNF139
Disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Association type: MENDELIAN
Gene: RNF139
Disease: Hereditary clear cell renal cell carcinoma; Hereditary clear cell renal cell adenocarcinoma (ORPHA:422526)
Association type: UNKNOWN
Gene: LMF1
Disease: LIPASE DEFICIENCY, COMBINED (OMIM:246650)
Association type: MENDELIAN
Gene: LMF1
Disease: Familial lipase maturation factor 1 deficiency; Familial LMF1 deficiency (ORPHA:535453)
Association type: UNKNOWN
Gene: INSL3
Disease: CRYPTORCHIDISM, UNILATERAL OR BILATERAL (OMIM:219050)
Association type: MENDELIAN
Gene: GSN
Disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Association type: MENDELIAN
Gene: GSN
Disease: AGel amyloidosis; Familial amyloid polyneuropathy type IV; Familial amyloidosis, Finnish type; Gelsolin amyloidosis; Hereditary amyloidosis, Finnish type (ORPHA:85448)
Association type: UNKNOWN
Gene: ELP1
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III (OMIM:223900)
Association type: MENDELIAN
Gene: ELP1
Disease: MEDULLOBLASTOMA (OMIM:155255)
Association type: POLYGENIC
Gene: ELP1
Disease: Familial dysautonomia; HSAN3; Hereditary sensory and autonomic neuropathy type 3; Hereditary sensory and autonomic neuropathy type III; Riley-Day syndrome (ORPHA:1764)
Association type: UNKNOWN
Gene: HDC
Disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Association type: POLYGENIC
Gene: USB1
Disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Association type: MENDELIAN
Gene: USB1
Disease: Poikiloderma with neutropenia; Poikiloderma with neutropenia, Clericuzio type (ORPHA:221046)
Association type: UNKNOWN
Gene: USB1
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: CTDP1
Disease: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY (OMIM:604168)
Association type: MENDELIAN
Gene: CTDP1
Disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome; CCFDN (ORPHA:48431)
Association type: UNKNOWN
Gene: DTNA
Disease: LEFT VENTRICULAR NONCOMPACTION 1 (OMIM:604169)
Association type: MENDELIAN
Gene: DTNA
Disease:  (OMIM:620971)
Association type: MENDELIAN
Gene: DTNA
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: WDR1
Disease: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME (OMIM:150550)
Association type: MENDELIAN
Gene: WDR1
Disease: Periodic fever-immunodeficiency-thrombocytopenia syndrome; PFITS (ORPHA:652522)
Association type: UNKNOWN
Gene: ACAD8
Disease: ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:611283)
Association type: MENDELIAN
Gene: ACAD8
Disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Association type: UNKNOWN
Gene: TRH
Disease: THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
Association type: MENDELIAN
Gene: TRH
Disease: Isolated thyrotropin-releasing hormone deficiency; Isolated TRF deficiency; Isolated TRH deficiency; Isolated TSH-releasing factor deficiency; Isolated prothyroliberin deficiency; Isolated protirelin deficiency; Isolated thyroliberin deficiency; Isolated thyrotropin-releasing factor deficiency (ORPHA:238670)
Association type: UNKNOWN
Gene: NHEJ1
Disease: SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION (OMIM:611291)
Association type: MENDELIAN
Gene: NHEJ1
Disease:  (OMIM:620968)
Association type: MENDELIAN
Gene: NHEJ1
Disease: Cernunnos-XLF deficiency; Cernunnos XLFD; Cernunnos deficiency; Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome; NHEJ1 deficiency (ORPHA:169079)
Association type: UNKNOWN
Gene: MCEE
Disease: METHYLMALONYL-CoA EPIMERASE DEFICIENCY (OMIM:251120)
Association type: MENDELIAN
Gene: MCEE
Disease: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency; MCEE deficiency; Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency; Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency; Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency (ORPHA:308425)
Association type: UNKNOWN
Gene: MMAB
Disease: METHYLMALONIC ACIDURIA, cblB TYPE (OMIM:251110)
Association type: MENDELIAN
Gene: MMAB
Disease: Vitamin B12-responsive methylmalonic acidemia type cblB; Vitamin B12-responsive methylmalonic aciduria, type cblB (ORPHA:79311)
Association type: UNKNOWN
Gene: PORCN
Disease: FOCAL DERMAL HYPOPLASIA (OMIM:305600)
Association type: MENDELIAN
Gene: PORCN
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: PORCN
Disease: Focal dermal hypoplasia; Goltz syndrome; Goltz-Gorlin syndrome (ORPHA:2092)
Association type: UNKNOWN
Gene: DRD5
Disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO (OMIM:606798)
Association type: POLYGENIC
Gene: DRD5
Disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:143465)
Association type: POLYGENIC
Gene: AGXT
Disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Association type: MENDELIAN
Gene: AGXT
Disease: Primary hyperoxaluria type 1; Glycolic aciduria; Peroxisomal alanine-glyoxylate aminotransferase deficiency (ORPHA:93598)
Association type: UNKNOWN
Gene: CENPT
Disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Association type: MENDELIAN
Gene: PTCH2
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 (OMIM:605462)
Association type: MENDELIAN
Gene: PTCH2
Disease: MEDULLOBLASTOMA (OMIM:155255)
Association type: MENDELIAN
Gene: PTCH2
Disease: Gorlin syndrome; Basal cell nevus syndrome; Gorlin-Goltz syndrome; NBCCS; Nevoid basal cell carcinoma syndrome (ORPHA:377)
Association type: UNKNOWN
Gene: PTCH2
Disease: Tessier number 7 facial cleft; Commissural facial cleft; Transverse facial cleft (ORPHA:141276)
Association type: UNKNOWN
Gene: WASF1
Disease: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES (OMIM:618707)
Association type: MENDELIAN
Gene: WASF1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: DLL1
Disease: NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES (OMIM:618709)
Association type: MENDELIAN
Gene: DLL1
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: DLL1
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: DLL1
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: DLL1
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: DLL1
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: DLL1
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: DLL1
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: NTNG2
Disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Association type: MENDELIAN
Gene: NTNG2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: MYOCD
Disease: MEGABLADDER, CONGENITAL (OMIM:618719)
Association type: MENDELIAN
Gene: LORICRIN
Disease: VOHWINKEL SYNDROME, VARIANT FORM (OMIM:604117)
Association type: MENDELIAN
Gene: LORICRIN
Disease: Progressive symmetric erythrokeratodermia; Darier-Gottron disease; Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia, Gottron type (ORPHA:316)
Association type: UNKNOWN
Gene: LORICRIN
Disease: Keratoderma hereditarium mutilans with ichthyosis; Camisa disease; Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome; Loricrin keratoderma; Vohwinkel syndrome with ichthyosis (ORPHA:79395)
Association type: UNKNOWN
Gene: PHF21A
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES (OMIM:618725)
Association type: MENDELIAN
Gene: PHF21A
Disease: Potocki-Shaffer syndrome; 11p11.2 deletion; Proximal 11p deletion syndrome (ORPHA:52022)
Association type: UNKNOWN
Gene: RHOA
Disease: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES (OMIM:618727)
Association type: MENDELIAN
Gene: RHOA
Disease: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies; RHOA-related mosaic ectodermal dysplasia (ORPHA:589608)
Association type: UNKNOWN
Gene: GOT2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82 (OMIM:618721)
Association type: MENDELIAN
Gene: BNC1
Disease: PREMATURE OVARIAN FAILURE 16 (OMIM:618723)
Association type: MENDELIAN
Gene: BNC1
Disease: 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; 46,XX ovarian dysgenesis; 46,XX pure gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD (ORPHA:243)
Association type: UNKNOWN
Gene: EGFR
Disease: LUNG CANCER (OMIM:211980)
Association type: MENDELIAN
Gene: EGFR
Disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 (OMIM:616069)
Association type: MENDELIAN
Gene: EGFR
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: EGFR
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: EGFR
Disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Association type: UNKNOWN
Gene: PPP2R1B
Disease: LUNG CANCER (OMIM:211980)
Association type: MENDELIAN
Gene: MAP3K8
Disease: LUNG CANCER (OMIM:211980)
Association type: MENDELIAN
Gene: FASLG
Disease: LUNG CANCER (OMIM:211980)
Association type: POLYGENIC
Gene: FASLG
Disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (OMIM:601859)
Association type: MENDELIAN
Gene: FASLG
Disease: Autoimmune lymphoproliferative syndrome; ALPS; Canale-Smith syndrome (ORPHA:3261)
Association type: UNKNOWN
Gene: SLC26A8
Disease: SPERMATOGENIC FAILURE 3 (OMIM:606766)
Association type: MENDELIAN
Gene: SLC26A8
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: TMX2
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY (OMIM:618730)
Association type: MENDELIAN
Gene: PMVK
Disease: POROKERATOSIS 1, MULTIPLE TYPES (OMIM:175800)
Association type: MENDELIAN
Gene: PMVK
Disease: Porokeratosis of Mibelli (ORPHA:735)
Association type: UNKNOWN
Gene: INPP5K
Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
Association type: MENDELIAN
Gene: INPP5K
Disease: Congenital muscular dystrophy-cataract-intellectual disability syndrome; INPP5K-related syndrome (ORPHA:662184)
Association type: UNKNOWN
Gene: TUBGCP2
Disease: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES (OMIM:618737)
Association type: MENDELIAN
Gene: ATP6V1E1
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Association type: MENDELIAN
Gene: ATP6V1E1
Disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Association type: UNKNOWN
Gene: CSNK2B
Disease: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME (OMIM:618732)
Association type: MENDELIAN
Gene: CSNK2B
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: CSNK2B
Disease: Poirier-Bienvenue neurodevelopmental syndrome (ORPHA:689397)
Association type: UNKNOWN
Gene: RPL27
Disease: DIAMOND-BLACKFAN ANEMIA 16 (OMIM:617408)
Association type: MENDELIAN
Gene: RPL27
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: DHX16
Disease: NEUROMUSCULAR OCULOAUDITORY SYNDROME (OMIM:618733)
Association type: MENDELIAN
Gene: DNAAF3
Disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Association type: MENDELIAN
Gene: DNAAF3
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: RPS27
Disease: DIAMOND-BLACKFAN ANEMIA 17 (OMIM:617409)
Association type: MENDELIAN
Gene: RPS27
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: GLUD1
Disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 (OMIM:606762)
Association type: MENDELIAN
Gene: GLUD1
Disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Association type: UNKNOWN
Gene: TSHB
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 (OMIM:275100)
Association type: MENDELIAN
Gene: TSHB
Disease: Isolated thyroid-stimulating hormone deficiency; Isolated TSH deficiency; Isolated thyrotropin deficiency (ORPHA:90674)
Association type: UNKNOWN
Gene: H4C5
Disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Association type: MENDELIAN
Gene: H4C5
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: H4C9
Disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Association type: MENDELIAN
Gene: H4C9
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: CELA2A
Disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 4 (OMIM:618620)
Association type: MENDELIAN
Gene: RBSN
Disease:  (OMIM:620939)
Association type: MENDELIAN
Gene: RBSN
Disease:  (OMIM:620937)
Association type: MENDELIAN
Gene: RBSN
Disease: Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN; Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5 (ORPHA:675782)
Association type: UNKNOWN
Gene: RBSN
Disease: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome (ORPHA:675775)
Association type: UNKNOWN
Gene: THAP11
Disease:  (OMIM:620947)
Association type: MENDELIAN
Gene: THAP11
Disease:  (OMIM:620940)
Association type: MENDELIAN
Gene: UBA2
Disease: ACCES SYNDROME (OMIM:619959)
Association type: MENDELIAN
Gene: UBA2
Disease: Aplasia cutis congenita (ORPHA:1114)
Association type: UNKNOWN
Gene: SMPD4
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES (OMIM:618622)
Association type: MENDELIAN
Gene: EXOC3L2
Disease:  (OMIM:620943)
Association type: MENDELIAN
Gene: PLXNA1
Disease: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME (OMIM:619955)
Association type: MENDELIAN
Gene: PLXNA1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ANAPC1
Disease: ROTHMUND-THOMSON SYNDROME, TYPE 1 (OMIM:618625)
Association type: MENDELIAN
Gene: ANAPC1
Disease: Rothmund-Thomson syndrome type 1; Poikiloderma of Rothmund-Thomson type 1; RTS1 (ORPHA:221008)
Association type: UNKNOWN
Gene: CHRM3
Disease: PRUNE BELLY SYNDROME (OMIM:100100)
Association type: MENDELIAN
Gene: CHRM3
Disease: Prune belly syndrome; Abdominal muscle deficiency syndrome; Eagle-Barret syndrome; Obrinsky syndrome; Triad syndrome (ORPHA:2970)
Association type: UNKNOWN
Gene: SLC6A9
Disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Association type: MENDELIAN
Gene: SLC6A9
Disease: Atypical glycine encephalopathy; Atypical NKA; Atypical non-ketotic hyperglycinemia (ORPHA:289863)
Association type: UNKNOWN
Gene: SLC6A9
Disease: Infantile glycine encephalopathy; Infantile NKH; Infantile non-ketotic hyperglycinemia (ORPHA:289860)
Association type: UNKNOWN
Gene: ZNF711
Disease: MENTAL RETARDATION, X-LINKED 97 (OMIM:300803)
Association type: MENDELIAN
Gene: ZNF711
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: SYP
Disease: MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
Association type: MENDELIAN
Gene: SYP
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: NUTM2B-AS1
Disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Association type: MENDELIAN
Gene: NUTM2B-AS1
Disease: Oculopharyngodistal myopathy; OPDM; Oculopharyngeal distal myopathy (ORPHA:98897)
Association type: UNKNOWN
Gene: GFAP
Disease: ALEXANDER DISEASE (OMIM:203450)
Association type: MENDELIAN
Gene: GFAP
Disease: Alexander disease type II; AxD type II (ORPHA:363722)
Association type: UNKNOWN
Gene: GFAP
Disease: Alexander disease type I; AxD type I (ORPHA:363717)
Association type: UNKNOWN
Gene: YME1L1
Disease: OPTIC ATROPHY 11 (OMIM:617302)
Association type: MENDELIAN
Gene: YME1L1
Disease: Autosomal recessive isolated optic atrophy; Autosomal recessive non-syndromic optic atrophy (ORPHA:98676)
Association type: UNKNOWN
Gene: ARFGEF1
Disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES (OMIM:619964)
Association type: MENDELIAN
Gene: ACOX2
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 (OMIM:617308)
Association type: MENDELIAN
Gene: TMEM63C
Disease: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE (OMIM:619966)
Association type: MENDELIAN
Gene: TMEM63C
Disease: Autosomal recessive spastic paraplegia type 87 (ORPHA:631088)
Association type: UNKNOWN
Gene: FITM2
Disease: SIDDIQI SYNDROME (OMIM:618635)
Association type: MENDELIAN
Gene: HACD1
Disease: CONGENITAL MYOPATHY 11 (OMIM:619967)
Association type: MENDELIAN
Gene: HACD1
Disease: Congenital fiber-type disproportion myopathy; CFTDM (ORPHA:2020)
Association type: UNKNOWN
Gene: WRN
Disease: WERNER SYNDROME (OMIM:277700)
Association type: MENDELIAN
Gene: WRN
Disease: Werner syndrome; Adult progeria; WS (ORPHA:902)
Association type: UNKNOWN
Gene: IRGM
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
Association type: POLYGENIC
Gene: IRGM
Disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 19 (OMIM:612278)
Association type: POLYGENIC
Gene: ATP6V0A1
Disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Association type: MENDELIAN
Gene: ATP6V0A1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Association type: MENDELIAN
Gene: ATP6V0A1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: TAF8
Disease: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY (OMIM:619972)
Association type: MENDELIAN
Gene: RINT1
Disease: INFANTILE LIVER FAILURE SYNDROME 3 (OMIM:618641)
Association type: MENDELIAN