@diseasegenes.bsky.social
I report new human disease-gene associations.
Let me know if I miss one!
(use #MorbidGene - message me first so I can set you up!)
Creator: @JamesFasham.bsky.social
#Genomics #RareDisease #Genetics
Let me know if I miss one!
(use #MorbidGene - message me first so I can set you up!)
Creator: @JamesFasham.bsky.social
#Genomics #RareDisease #Genetics
New finding from A_Khan731 on Twitter/X!
RT @FranMartinezGr: Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders #…
RT @FranMartinezGr: Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders #…
January 16, 2026 at 9:59 AM
New finding from A_Khan731 on Twitter/X!
RT @FranMartinezGr: Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders #…
RT @FranMartinezGr: Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders #…
New finding from FranMartinezGr on Twitter/X! ift.tt/ZfCFhO1
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders #RareDisease #Genetics #morbidgene
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders #RareDisease #Genetics #morbidgene
t.co
January 16, 2026 at 8:02 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/ZfCFhO1
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders #RareDisease #Genetics #morbidgene
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders #RareDisease #Genetics #morbidgene
New finding from FranMartinezGr on Twitter/X! ift.tt/jQRBMqa
De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy #RareDisease #Genetics…
De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy #RareDisease #Genetics…
t.co
January 14, 2026 at 8:02 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/jQRBMqa
De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy #RareDisease #Genetics…
De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy #RareDisease #Genetics…
New finding from A_Khan731 on Twitter/X!
RT @FranMartinezGr: De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa #RareDisease #Genetics #mor…
RT @FranMartinezGr: De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa #RareDisease #Genetics #mor…
January 12, 2026 at 8:02 AM
New finding from A_Khan731 on Twitter/X!
RT @FranMartinezGr: De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa #RareDisease #Genetics #mor…
RT @FranMartinezGr: De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa #RareDisease #Genetics #mor…
New finding from FranMartinezGr on Twitter/X! ift.tt/7ZBtuPe
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa #RareDisease #Genetics #morbidgene t.co/pdWWrxCUtn
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa #RareDisease #Genetics #morbidgene t.co/pdWWrxCUtn
t.co
January 11, 2026 at 6:14 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/7ZBtuPe
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa #RareDisease #Genetics #morbidgene t.co/pdWWrxCUtn
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa #RareDisease #Genetics #morbidgene t.co/pdWWrxCUtn
New finding from FranMartinezGr on Twitter/X! ift.tt/wuPO7W9
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations #RareDisease #Genetics #morbidgene t.co/31AXzUFC33
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations #RareDisease #Genetics #morbidgene t.co/31AXzUFC33
t.co
January 9, 2026 at 9:59 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/wuPO7W9
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations #RareDisease #Genetics #morbidgene t.co/31AXzUFC33
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations #RareDisease #Genetics #morbidgene t.co/31AXzUFC33
New finding from FranMartinezGr on Twitter/X! ift.tt/Z0G5jD1
De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons #RareDisease #Genetics #morbidgene t.co/k8Ps7qw1ZF
De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons #RareDisease #Genetics #morbidgene t.co/k8Ps7qw1ZF
t.co
December 31, 2025 at 3:14 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/Z0G5jD1
De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons #RareDisease #Genetics #morbidgene t.co/k8Ps7qw1ZF
De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons #RareDisease #Genetics #morbidgene t.co/k8Ps7qw1ZF
New finding from FranMartinezGr on Twitter/X! ift.tt/KrM7Jjh
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder #RareDisease #Genetics #morbidgene t.co/nMI6dRlcIu
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder #RareDisease #Genetics #morbidgene t.co/nMI6dRlcIu
t.co
December 30, 2025 at 8:02 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/KrM7Jjh
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder #RareDisease #Genetics #morbidgene t.co/nMI6dRlcIu
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder #RareDisease #Genetics #morbidgene t.co/nMI6dRlcIu
New finding from FranMartinezGr on Twitter/X! ift.tt/jPNQFd3
ASNA1 is essential for cardiac development and function by regulating tail-anchored protein stability and vesicular transport in cardiomyocytes #RareDisease #Genetics #morbidgene
ASNA1 is essential for cardiac development and function by regulating tail-anchored protein stability and vesicular transport in cardiomyocytes #RareDisease #Genetics #morbidgene
ASNA1 is essential for cardiac development and function by regulating tail-anchored protein stability and vesicular transport in cardiomyocytes
Author summary Cardiomyopathy is a condition characterized by structural and functional abnormalities of the heart muscle, which can impair its ability to pump blood effectively and may eventually lead...
t.co
December 29, 2025 at 9:42 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/jPNQFd3
ASNA1 is essential for cardiac development and function by regulating tail-anchored protein stability and vesicular transport in cardiomyocytes #RareDisease #Genetics #morbidgene
ASNA1 is essential for cardiac development and function by regulating tail-anchored protein stability and vesicular transport in cardiomyocytes #RareDisease #Genetics #morbidgene
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1002/...
Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures #RareDisease #Genetics #morbidgene
Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures #RareDisease #Genetics #morbidgene
t.co
December 29, 2025 at 8:02 AM
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1002/...
Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures #RareDisease #Genetics #morbidgene
Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures #RareDisease #Genetics #morbidgene
New finding from KVarvagiannis on Twitter/X!
RT @FranMartinezGr: CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE #Ra…
RT @FranMartinezGr: CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE #Ra…
December 26, 2025 at 3:14 PM
New finding from KVarvagiannis on Twitter/X!
RT @FranMartinezGr: CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE #Ra…
RT @FranMartinezGr: CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE #Ra…
New finding from FranMartinezGr on Twitter/X! ift.tt/ltW9GL6
A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy #RareDisease #Genetics #morbidgene
A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy #RareDisease #Genetics #morbidgene
A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
Protein glycosylation defects can present with early-onset brain malformations and muscular dystrophy or milder, late-onset muscular dystrophy. Here, we report a new glycosylation defect with an atypical...
t.co
December 26, 2025 at 1:14 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/ltW9GL6
A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy #RareDisease #Genetics #morbidgene
A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy #RareDisease #Genetics #morbidgene
New finding from FranMartinezGr on Twitter/X! ift.tt/LuYS0nj
CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE #RareDisease #Genetics #morbidgene t.co/aDFN7CuOe5
CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE #RareDisease #Genetics #morbidgene t.co/aDFN7CuOe5
t.co
December 25, 2025 at 5:09 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/LuYS0nj
CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE #RareDisease #Genetics #morbidgene t.co/aDFN7CuOe5
CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE #RareDisease #Genetics #morbidgene t.co/aDFN7CuOe5
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1155/...
Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder #RareDisease #Genetics #morbidgene t.co/G9zicPvjrY
Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder #RareDisease #Genetics #morbidgene t.co/G9zicPvjrY
t.co
December 22, 2025 at 6:14 PM
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1155/...
Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder #RareDisease #Genetics #morbidgene t.co/G9zicPvjrY
Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder #RareDisease #Genetics #morbidgene t.co/G9zicPvjrY
New finding from FranMartinezGr on Twitter/X! ift.tt/z1crsZ3
Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy #RareDisease #Genetics #morbidgene t.co/Cr3mRa1jzU
Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy #RareDisease #Genetics #morbidgene t.co/Cr3mRa1jzU
t.co
December 22, 2025 at 9:42 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/z1crsZ3
Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy #RareDisease #Genetics #morbidgene t.co/Cr3mRa1jzU
Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy #RareDisease #Genetics #morbidgene t.co/Cr3mRa1jzU
New finding from FranMartinezGr on Twitter/X! ift.tt/zqvDIU2
Heterozygous Loss of OSR2 Can Cause Radio-Ulnar Synostosis with Ancillary Skeletal Manifestations #RareDisease #Genetics #morbidgene t.co/llLAlBFOiM
Heterozygous Loss of OSR2 Can Cause Radio-Ulnar Synostosis with Ancillary Skeletal Manifestations #RareDisease #Genetics #morbidgene t.co/llLAlBFOiM
t.co
December 21, 2025 at 6:14 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/zqvDIU2
Heterozygous Loss of OSR2 Can Cause Radio-Ulnar Synostosis with Ancillary Skeletal Manifestations #RareDisease #Genetics #morbidgene t.co/llLAlBFOiM
Heterozygous Loss of OSR2 Can Cause Radio-Ulnar Synostosis with Ancillary Skeletal Manifestations #RareDisease #Genetics #morbidgene t.co/llLAlBFOiM
New finding from FranMartinezGr on Twitter/X! ift.tt/ZhYyPti
Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism and ep…
Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism and ep…
t.co
December 18, 2025 at 5:09 PM
New finding from FranMartinezGr on Twitter/X! ift.tt/ZhYyPti
Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism and ep…
Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism and ep…
New finding from FranMartinezGr on Twitter/X! ift.tt/DKyUBjT
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER #RareDisease #Genetics #morbidgene t.co/zz9onxLWst
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER #RareDisease #Genetics #morbidgene t.co/zz9onxLWst
t.co
December 17, 2025 at 8:02 AM
New finding from FranMartinezGr on Twitter/X! ift.tt/DKyUBjT
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER #RareDisease #Genetics #morbidgene t.co/zz9onxLWst
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER #RareDisease #Genetics #morbidgene t.co/zz9onxLWst
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1155/...
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft #RareDisease #Genetics #morbidgene
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft #RareDisease #Genetics #morbidgene
t.co
December 15, 2025 at 6:14 PM
New finding from FranMartinezGr on Twitter/X! onlinelibrary.wiley.com/doi/10.1155/...
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft #RareDisease #Genetics #morbidgene
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft #RareDisease #Genetics #morbidgene